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1.
Medicina (B.Aires) ; 81(3): 462-466, jun. 2021. graf
Article in English | LILACS | ID: biblio-1346486

ABSTRACT

Abstract PTH-independent hypercalcemia due to granulomatous disease is well-documented and sarcoidosis is the most characteristic disease, although there are others. We describe a case of sarcoid-like granulomatous myositis. An 87-year-old man was referred with tetraparesis and hypercalcemia (albumin-corrected calcium of 13.4 mg/dl) following a trip to the Caribbean. The evaluation showed a suppressed PTH, 25-hydroxy vitamin D of 7.5 ng/ml, 18F-FDG PET/CT showed markedly increased uptake in intercostal, back, shoulder, but tock and thigh muscles and a deltoid biopsy confirmed extensive granulomatous myositis. He was prescribed glucocorticoids which resulted in normalized plasma calcium levels and complete recovery from tetraparesis. Sarcoid-like granulomatous myositis should be incorporated into the differential diagnosis of PTH-independent hypercalcemia, especially in the absence of clinical features of sarcoidosis and with special emphasis on the use of 18F-FDG PET/CT to ensure a correct approach.


Resumen La hipercalcemia PTH-independiente asociada a enfermedades granulomatosas está bien documentada y la sarcoidosis es la enfermedad más característica, a pesar de que existen otras. Des cribimos un caso de miositis granulomatosa simil-sarcoidea. Un hombre de 87 años consultó por tetraparesia e hipercalcemia (calcio corregido por albúmina 13.4 mg/dl) luego de un viaje al Caribe. La evaluación mostró una PTH suprimida, 25-hidroxivitamina D 7.5 ng/ml, 18F-FDG PET/CT mostró marcado aumento de captación a nivel de musculatura intercostal, dorsal, deltoidea, glúteos y muslos. Una biopsia deltoidea confirmó una miositis granulomatosa extensa. Se prescribieron glucocorticoides, resultando en normalización del calcio plasmático y completa recuperación de la tetraparesia. La miositis granulomatosa simil-sarcoidea debe ser incorporada den tro del diagnóstico diferencial de la hipercalcemia PTH-independiente, especialmente en ausencia de hallazgos clínicos de sarcoidosis y con especial énfasis en el uso de 18F-FDG PET/CT para su correcta aproximación.


Subject(s)
Humans , Male , Aged, 80 and over , Sarcoidosis/complications , Sarcoidosis/diagnosis , Hypercalcemia/diagnosis , Hypercalcemia/etiology , Myositis/complications , Myositis/diagnosis , Positron Emission Tomography Computed Tomography , Granuloma/complications , Granuloma/diagnosis
2.
Arch. argent. pediatr ; 119(5): e545-e549, oct. 2021. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1292803

ABSTRACT

La hipercalcemia asociada a tumores malignos es una entidad poco frecuente en pediatría (0,5-1,3 % de los cánceres pediátricos). Es causada por diferentes mecanismos fisiopatológicos y los síntomas de presentación suelen ser inespecíficos, pero potencialmente graves. Presentamos un caso clínico de una paciente de 12 años con diagnóstico de disgerminoma ovárico bilateral. La enfermedad se presentó con hipercalcemia grave, tratada con hiperhidratación asociada a diuréticos de asa, bifosfonatos y, por último, la resección quirúrgica del tumor, que permitió la resolución definitiva del cuadro. A pesar de tratarse de un trastorno hidroeléctrico poco habitual en pediatría, dada la potencial gravedad de la hipercalcemia, es importante la detección y el tratamiento tempranos, con el fin de evitar complicaciones en el corto y el largo plazo


Hypercalcemia associated with malignant tumors is a rare entity in pediatrics (0.5-1.3 % of pediatric cancers). It responds to different pathophysiological mechanisms and the typical symptoms shown are usually nonspecific, but potentially serious. We present a clinical case of a 12-year-old patient with a bilateral ovarian dysgerminoma who was diagnosed with severe hypercalcemia at the onset, which required hyperhydration associated with loop diuretics, bisphosphonates and, eventually, the tumor resection surgery that allowed the final resolution of the clinical picture.Despite being a rare hydroelectric disorder in pediatrics, given the potential severity of hypercalcemia, early detection and treatment are important in order to avoid potential short- and long-term complications.


Subject(s)
Humans , Female , Child , Ovarian Neoplasms/complications , Ovarian Neoplasms/diagnosis , Dysgerminoma/complications , Dysgerminoma/diagnosis , Hypercalcemia/diagnosis , Hypercalcemia/etiology , Pediatrics
3.
Rev. chil. endocrinol. diabetes ; 14(4): 166-170, 2021. tab, ilus
Article in Spanish | LILACS | ID: biblio-1344802

ABSTRACT

La epilepsia es una enfermedad neurológica frecuente que afecta a cerca de 50.000 millones de personas en el mundo. En Chile, la prevalencia estimada es de 10.8 a 17 por 1.000 habitantes. La primera opción para su tratamiento son los fármacos antiepilépticos (FAE) los cuales logran un aceptable control de enfermedad en la mayoría de los casos, sin embargo, tienen la potencialidad de desencadenar una serie de efectos adversos destacando entre ellos el desarrollo de hipocalcemia (HC) secundaria a hipovitaminosis D (HD), alteración que por lo general es leve y asintomática. Presentamos el caso de una mujer perimenopausica con antecedente de epilepsia en tratamiento con anticonvulsivante que desarrolla hipocalcemia severa. Además revisamos los mecanismos descritos a través de los cuales los FAE afectan el metabolismo de esta vitamina.


Epilepsy is a common neurological disease that affects about 50,000 million people in the world. The estimated prevalence is 10.8 to 17 per 1.000 inhabitants in Chile. The first option for its treatment are antiepileptic drugs (AEDs) which achieve an acceptable control of the disease in most cases, however, they have the potential to trigger a series of adverse effects (AE) highlighting among them the development of hypocalcemia (HC) secondary to hypovitaminosis D (HD), an alteration that is generally mild and asymptomatic. We present the case of a perimenopausal woman with a history of epilepsy under treatment with an anticonvulsant who develops severe hypocalcemia. We also review the mechanisms described through which AEDs affect the metabolism of this vitamin.


Subject(s)
Humans , Female , Middle Aged , Vitamin D Deficiency/complications , Vitamin D Deficiency/chemically induced , Epilepsy/drug therapy , Anticonvulsants/adverse effects , Vitamin D/metabolism , Epilepsy/metabolism , Hypercalcemia/etiology
4.
Braz. j. med. biol. res ; 54(6): e10558, 2021. tab
Article in English | LILACS | ID: biblio-1249309

ABSTRACT

Hypercalcemia is common in patients after kidney transplantation (KTx) and is associated with persistent hyperparathyroidism in the majority of cases. This retrospective, single-center study evaluated the prevalence of hypercalcemia after KTx. KTx recipients were evaluated for 7 years after receiving kidneys from living or deceased donors. A total of 301 patients were evaluated; 67 patients had hypercalcemia at some point during the follow-up period. The median follow-up time for all 67 patients was 62 months (44; 80). Overall, 45 cases of hypercalcemia were classified as related to persistent post-transplant hyperparathyroidism (group A), 16 were classified as "transient post-transplant hypercalcemia" (group B), and 3 had causes secondary to other diseases (1 related to tuberculosis, 1 related to histoplasmosis, and 1 related to lymphoma). The other 3 patients had hypercalcemia of unknown etiology, which is still under investigation. In group A, the onset of hypercalcemia after KTx was not significantly different from that of the other groups, but the median duration of hypercalcemia in group A was 25 months (12.5; 53), longer than in group B, where the median duration of hypercalcemia was only 12 months (10; 15) (P<0.002). The median parathyroid hormone blood levels around 12 months after KTx were 210 pg/mL (141; 352) in group A and 72.5 pg/mL (54; 95) in group B (P<0.0001). Hypercalcemia post-KTx is not infrequent and its prevalence in this center was 22.2%. Persistent hyperparathyroidism was the most frequent cause, but other important etiologies must not be forgotten, especially granulomatous diseases and malignancies.


Subject(s)
Humans , Kidney Transplantation/adverse effects , Hypercalcemia/etiology , Hypercalcemia/epidemiology , Hyperparathyroidism , Parathyroid Hormone , Calcium , Retrospective Studies , Kidney
5.
In. Manzanares Castro, William; Aramendi Epstein, Ignacio; Pico, José Luis do. Disionías en el paciente grave: historias clínicas comentadas. Montevideo, Cuadrado, 2021. p.321-339, tab.
Monography in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1344744
6.
Rev. bras. cancerol ; 65(4)20191216.
Article in Portuguese | LILACS | ID: biblio-1048480

ABSTRACT

Introdução: A leucemia linfoblástica aguda (LLA) é a neoplasia maligna mais comum em crianças e a principal causa de morte por câncer nessa faixa etária. A hipercalcemia associada a lesões osteolíticas francas é uma rara apresentação da LLA. Relato do Caso: Paciente de 9 anos, sexo masculino, 37kg, apresentava cefaleia, dor e impotência funcional em membro inferior direito há 15 dias. Exames laboratoriais evidenciaram elevação de velocidade de hemossedimentação e proteína C reativa com hipercalcemia. Nos exames de imagem, apresentava desmineralização óssea e lesões osteolíticas difusas. Aspirado de medula óssea (MO) evidenciou 10% de blastos, o que não caracterizou leucemia. Pela melhora do quadro clínico, o paciente seguiu com investigação diagnóstica ambulatorialmente. Biópsia de lesão lítica em quadril e novo aspirado de MO detectaram maior número de blastos e confirmaram o diagnóstico de LLA. Iniciou tratamento com protocolo do Grupo Brasileiro de Tratamento de Leucemias na Infância, 2009. Após dois anos, estava bem e sem doença. Conclusão:A hipercalcemia está associada a apenas 0,6% a 4,8% dos casos de LLA. O paciente em questão apresentava apenas dores ósseas difusas e hipercalcemia, sem a sintomatologia habitual, o que torna seu quadro clínico ainda mais raro, sendo tal apresentação muito escassa na literatura. Apesar de incomuns, hipercalcemia e lesões osteolíticas difusas podem ser as primeiras e únicas manifestações de LLA na faixa pediátrica. O presente relato torna-se importante ao auxiliar a formulação de diagnósticos precoces da leucemia infantil, mesmo na vigência de um quadro clínico atípico.


Introduction: Acute lymphoblastic leukemia (ALL) is the most common malignant neoplasm in children and the leading cause of cancer death in this age group. Hypercalcemia associated with frank osteolytic lesions is a rare presentation of ALL. Case Report: 9-year-old male, 37 kg, presented with headache, pain and functional impotence in the lower right leg for 15 days. Laboratory tests showed elevation of erythrocyte sedimentation rate and C-reactive protein with hypercalcemia. Imaging studies revealed bone demineralization and diffuse osteolytic lesions. Bone marrow aspiration showed 10% of blasts, which did not characterize leukemia. Due to the improvement of his clinical condition, the patient continued the clinical investigation as an outpatient. Biopsy of lytic lesion in the hip and new bone marrow aspirations detected higher number of blasts and confirmed the diagnosis of ALL. Treatment was initiated, following the protocol of the Brazilian Group of Treatment of Leukemia in Childhood, 2009. After two years, he was well and without disease. Conclusion: Hypercalcemia is associated with only 0.6% to 4.8% of all ALL cases. The patient presented only diffuse bone pain and hypercalcemia, without the usual symptoms, which makes his clinical condition even rarer, with such presentation being very scarce in the literature. Although uncommon, hypercalcemia and diffuse osteolytic lesions may be the first and only manifestations of ALL in the pediatric range. The present report is important in helping to formulate early diagnosis of childhood leukemia, even in the presence of an atypical clinical condition.


Introducción: La leucemia linfoblástica aguda (LLA) es la neoplasia maligna más común en los niños y principal causa de muerte por cáncer en ese grupo de edad. La hipercalcemia asociada a lesiones osteolíticas francas es una rara presentación de LLA. Relato del Caso: Paciente de 9 años, masculino, 37kg, presentaba cefalea, dolor e impotencia funcional en miembro inferior derecho hace 15 días. Los exámenes de laboratorio evidenciaron elevación de velocidad de sedimentación globular y proteína C reactiva con hipercalcemia. En los exámenes de imagen, presentaba esmineralización ósea y lesiones osteolíticas difusas. Aspirado de médula ósea (MO) evidenció el 10% de blastos, lo que no caracterizó la leucemia. Debido a la mejora del cuadro clínico, el paciente siguió la investigación diagnóstica ambulatoriamente. La biopsia de lesión lítica en cadera y nuevo aspirado de MO detectaron mayor número de blastos y confirmaron el diagnóstico de LLA. Se inició tratamiento con protocolo del Grupo Brasileño de Tratamiento de Leucemias en la Infancia, 2009. Conclusión: La hipercalcemia está asociada a sólo 0,6% a 4,8% de los casos de LLA. El paciente en cuestión presentaba sólo dolores óseos difusas e hipercalcemia, sin la sintomatología habitual, lo que hace el cuadro clínico del paciente aún más raro, siendo tal presentación muy escasa en la literatura. A pesar de inusual, hipercalcemia y lesiones osteolíticas difusas pueden ser las primeras y únicas manifestaciones de LLA en niños. El presente relato se vuelve importante al ayudar a la formulación de diagnósticos precoces de la leucemia infantil, incluso en la vigencia de un cuadro clínico atípico.


Subject(s)
Humans , Male , Child , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Hypercalcemia/diagnosis , Osteolysis/diagnostic imaging , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Early Detection of Cancer , Hypercalcemia/etiology
7.
Rev. méd. Chile ; 147(1): 125-129, 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-991383

ABSTRACT

Rhabdomyolysis (RD) is the process that leads to cell destruction of striated muscle. Causes include inherited metabolic defects or acquired disorders. RD is frequently associated with acute kidney injury (AKI) and disorders of calcium metabolism. We report a 33 year old man that after amphetamine consumption and an uninterrupted 3,000 km driving presented vomiting, muscle pain and dark urine. He had elevated creatinkinase levels, severe hypocalcemia and an acute renal failure. He was treated with hemodialysis and calcitriol. He was transferred to our hospital and on admission a serum calcium of 18 mg/dl was detected. He continued on hemodialysis, recovering renal function and with normalization of creatinkinase levels and serum calcium level.


Subject(s)
Humans , Male , Adult , Rhabdomyolysis/complications , Acute Kidney Injury/etiology , Hypercalcemia/etiology , Radionuclide Imaging/methods , Calcium/blood , Renal Dialysis/methods , Creatine Kinase/blood , Acute Kidney Injury/therapy , Hypercalcemia/diagnostic imaging , Hypocalcemia/etiology
8.
Rev. chil. endocrinol. diabetes ; 12(4): 205-207, 2019.
Article in Spanish | LILACS | ID: biblio-1088026

ABSTRACT

INTRODUCCIÓN: El carcinoma de paratiroides es una enfermedad de difícil diagnóstico, siendo perentorio una detección precoz y un tratamiento oportuno para prevenir las complicaciones. CASO CLÍNICO: Se presenta paciente de 42 años que debuta con hipercalcemia de 16.1 mg/dl, PTH 1573 pg/mL y lesión sugerente de adenoma de paratiroides. Biopsia quirúrgica identifica carcinoma paratiroideo sin invasión, realizándose posteriormente lobectomía derecha con foco de 0,1 mm de carcinoma paratiroideo, con bordes libres. En comité oncológico se decide seguimiento estricto; sin embargo, a los seis meses requiere hospitalización nuevamente por hipercalcemia, a la ecografía cervical presenta dos nódulos hipoecogénicos menores a 1 cm en lecho quirúrgico. Tomografía computada sin evidencia de lesiones. Con estos antecedentes, se decide exploración cervical, encontrándose tumor de 2 cm, multilobulado, paraesofágico. Biopsia evidencia carcinoma paratiroideo con invasión en tejido graso y músculo estriado. Se descarta radioterapia paliativa y quimioterapia debido a escasa evidencia, quedando en cuidados paliativos. DISCUSIÓN: El cáncer de paratiroides es una enfermedad de difícil diagnóstico. En muchos casos se ha descrito la crisis hipercalcémica como presentación inicial. La resección en bloque de la lesión de paratiroides con hemitiroidectomía ipsilateral es el tratamiento estándar. Es un tumor radio resistente y la quimioterapia adyuvante no ha demostrado aumento en la sobrevida. En pacientes con enfermedad inoperable, el pronóstico es pobre, siendo fundamental el control de calcemia y PTH, las cuales son la causa principal de morbimortalidad. CONCLUSIONES: El carcinoma paratiroideo es una enfermedad rara, cuyo diagnóstico y tratamiento representan un verdadero desafío clínico, siendo crucial el alto índice de sospecha. Su curso es crónico y de mal pronóstico, por lo que para pacientes de alto riesgo debe considerarse una cirugía radical desde el inicio.


INTRODUCTION: Parathyroid carcinoma is a difficult diagnosis, with early detection and timely treatment to prevent complications being imperative. CLINICAL CASE: A 42-year-old patient presenting with hypercalcemia of 16.1 mg / dl, PTH 1573 pg / mL and suggestive lesion of parathyroid adenoma is presented. Surgical biopsy identifies parathyroid carcinoma without invasion, subsequently performing right lobectomy with 0.1 mm focus of parathyroid carcinoma, with free borders. Oncological committee, strict follow-up is decided; However, at six months he requires hospitalization again for hypercalcemia, at cervical ultrasound he presents two hypoechogenic nodules smaller than 1 cm in the surgical bed. CT scan without evidence of injuries. With this background, cervical exploration is decided, finding a 2 cm, multilobed, paraesophageal tumor. Biopsy shows parathyroid carcinoma with invasion of fatty tissue and striated muscle. Palliative radiotherapy and chemotherapy are ruled out due to limited evidence, remaining in palliative care. DISCUSSION: Parathyroid cancer is a difficult diagnosis disease. In many cases the hypercalcemic crisis has been described as an initial presentation. Block resection of the parathyroid lesion with ipsilateral hemitiroidectomy is the standard treatment. It is a radioresistant tumor and adjuvant chemotherapy has not shown an increase in survival. In patients with inoperable disease, the prognosis is poor, with the control of calcemia and PTH being essential, which are the main cause of morbidity and mortality. CONCLUSIONS: Parathyroid carcinoma is a rare disease, the diagnosis and treatment of which represent a real clinical challenge, the high index of suspicion being crucial. Its course is chronic and has a poor prognosis, so for high-risk patients, radical surgery should be considered from the beginning.


Subject(s)
Humans , Female , Middle Aged , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Adenoma/complications , Adenoma/diagnosis , Hypercalcemia/etiology , Parathyroid Neoplasms/surgery , Adenoma/surgery
9.
Arch. argent. pediatr ; 116(6): 757-761, dic. 2018. ilus, tab
Article in Spanish | LILACS, BINACIS | ID: biblio-973692

ABSTRACT

La presencia de hipercalcemia mantenida obliga a realizar pruebas complementarias para determinar su origen. Es benigna y, generalmente, no requiere tratamiento. La secuenciación del gen CaSR confirma el diagnóstico y evita tratamientos innecesarios. Se presenta a un niño de 12 años, asintomático, con hipercalcemia persistente entre 11,4 y 12,2 mg/dl. El padre y dos hermanos tenían hipercalcemia asintomática. El análisis de laboratorio mostró valores de magnesio, fósforo y vitamina D normales y de hormona paratiroidea llamativamente normal para el valor de la hipercalcemia. Indice de calcio/creatinina urinario: 0,11 mg/mg; y calciuria de 24 h: 1,8 mg/kg/día. Ecografía abdominal, paratiroides, radiografías de huesos largos y densitometría ósea, normales. El estudio genético mostró mutación en exón 6 (c.1651A>G) del gen CaSR (en heterocigosis), confirmada en el padre y los hermanos.


The finding of persistent hypercalcemia suggests doing other medical tests to find the cause. Familial hypocalciuric hypercalcemia is usually benign and it requires no treatment. It is important to do CASR gene sequencing to avoid unnecessary treatments. We report a 12-year-old child, asymptomatic, with calcemia between 11.4 and 12.2 mg/dl. His father and two brothers presented asymptomatic hypercalcemia. The blood test with magnesium, phosphorus, 25(OH)Vit D was normal, remarkable normal parathyroid hormone for the level of hypercalcemia. Urinary calcium/creatinine ratio was 0,11 mg/dl and 24-hour urinary calcium was 1,8 mg/kg per day. Abdominal and parathyroid ecography, long bone radiographs and densitometry were normal. Genetic study showed a mutation, c.1651A>G, in exon 6 of the calciumsensing receptor gene, confirmed in father and brothers, too.


Subject(s)
Humans , Male , Child , Receptors, Calcium-Sensing/genetics , Hypercalcemia/congenital , Hypercalcemia/etiology , Exons , Hypercalcemia/diagnosis , Hypercalcemia/genetics , Mutation
10.
Rev. Assoc. Med. Bras. (1992) ; 64(7): 575-576, July 2018. graf
Article in English | LILACS | ID: biblio-976835

ABSTRACT

SUMMARY Hypercalcemia associated with silicone-induced granuloma is a rare disease. Diagnosis can be tricky as it is established after ruling out other hypercalcemia-causing entities. In addition, management is customized depending on the patient's wishes and possible solutions. We present a male bodybuilder, in his thirties, with multiple silicone injections in his upper extremities, who developed hypercalcemia and urinary symptoms. Advanced laboratory tests ruled out various causes of hypercalcemia and CT imaging revealed nephrocalcinosis. A biopsy of the upper arm showed granulomatous tissue and inflammation. The patient necessitated two sessions of dialysis and corticosteroids were given to relieve symptoms and reverse laboratory abnormalities. Silicone-induced hypercalcemia should be on high alert because of the increasing trend of body contour enhancements with injections, implants and fillers. Treatment should be optimized depending on the patient's needs and condition.


RESUMO A hipercalcemia associada ao granuloma induzido por silicone é uma doença rara. O diagnóstico pode ser complicado, pois é estabelecido depois de eliminadas outras entidades que causam hipercalcemia. Além disso, o gerenciamento é personalizado, dependendo dos desejos do paciente e das possíveis soluções. Apresentamos um fisiculturista masculino, com trinta e poucos anos, múltiplas injeções de silicone nas extremidades superiores, que desenvolveu hipercalcemia e sintomas urinários. Testes laboratoriais avançados descartaram várias causas de hipercalcemia e a imagem da TC revelou nefrocalcinoses. Uma biópsia da parte superior mostrou tecido granulomatoso e inflamação. O paciente exigiu duas sessões de diálise e foram administrados corticosteroides para aliviar os sintomas e reverter as anormalidades laboratoriais. A hipercalcemia induzida por silicone deve estar em alerta elevado devido à crescente tendência de aprimoramentos do contorno corporal com injeções, implantes e enchimentos. O tratamento deve ser otimizado de acordo com as necessidades e condições do paciente.


Subject(s)
Humans , Male , Adult , Silicones/adverse effects , Granuloma, Foreign-Body/complications , Hypercalcemia/etiology , Weight Lifting , Biopsy , Injections, Intradermal , Granuloma, Foreign-Body/pathology , Hypercalcemia/pathology
11.
Rev. chil. endocrinol. diabetes ; 11(1): 16-19, 2018. tab, ilus
Article in Spanish | LILACS | ID: biblio-999028

ABSTRACT

INTRODUCTION: The hypercalcemia is infrequent in pediatrics, its clinical is diverse, and its etiology is determined by age. Among the dependent causes of parathormone (PHT) is the hyperthyroidism, state of hypersecretion of PHT by parathyroid glands (PG). The primary hyperparathyroidism (PHPT) is rare in children, there are 200 reported cases. In older children, the causes for PHPT correspond to parathyroid adenoma, multiglandular disease and parathyroid carcinoma. OBJECTIVE: Report a case of an 11 years old male adolescent. He presents three months symptoms of constipation, anorexia, vomiting and weight loss. Urgent consultation due to an increase of his symptoms, in exams stand out: calcemia 16.67 mg/dl (NV 8.8-10.8 mg/dl), phosphatemia 2.21 mg/dl (NV 4.5-5.5 mg/dl), parathormone (PHT) 308.7 pg/ml (NV 15-68.3 pg/ml), calciuria/creatininuria 0.56 (NV < 0.2). He was hospitalized to manage his severe hypercalcemia, it was indicated hyperhydration, monopotassium phosphate, intravenous hydrocortisone and furosemide. In his study was performed a cervical ultrasound which showed a solid node in the right parathyroid gland, hypoechogenic and scintigram parathyroid compatible with right superior parathyroid adenoma. In the waiting for surgery was necessary the administration of intravenous pamidronate. In the post-operatory, he evolved with hipocalcemia that was corrected with intravenous calcium carbonate, overlapping to oral calcium and calcitriol. CONCLUSION: The PHPT is a pathology of low prevalence in pediatrics, one hundred times less than adults. In the adolescent, the most frequent cause is the parathyroid adenoma. It should be considered as a differential diagnosis in cases of symptomatic hypercalcemia in this age group


Subject(s)
Humans , Male , Child , Parathyroid Neoplasms/diagnosis , Adenoma/diagnosis , Hyperparathyroidism, Primary/etiology , Parathyroid Hormone/blood , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Phosphorus/blood , Thyroid Gland/diagnostic imaging , Adenoma/surgery , Adenoma/complications , Calcium/blood , Parathyroidectomy , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/diagnosis , Hypercalcemia/diagnosis , Hypercalcemia/etiology
12.
Rev. Soc. Bras. Clín. Méd ; 15(4): 259-263, 20170000. ilus
Article in Portuguese | LILACS | ID: biblio-877086

ABSTRACT

A hipercalcemia deve ser considerada no diagnóstico diferencial de alterações neuropsiquiátricas agudas. Em 90% dos casos, a etiologia corresponde a hiperparatireoidismo primário ou neoplasias. Valores séricos superiores a 14mg/dL e sintomáticos são frequentemente tradutores de causa maligna. O carcinoma anaplásico da tireoide consiste em um tumor indiferenciado, com progressão rápida e prognóstico reservado, que evolui, em alguns casos, a partir de lesões tireóideas preexistentes, benignas ou malignas (desdiferenciação). Embora a apresentação clínica mais frequente destes tumores consista no desenvolvimento de massa cervical, eles podem ser diagnosticados no esclarecimento etiológico de metástases ou síndromes paraneoplásicos. A hipercalcemia, associada à neoplasia, pode ocorrer em contexto de metástases ósseas, com libertação de citocinas, ou por mecanismo humoral, mediada pela proteína relacionada ao hormônio hormônio paratireóideo (PTHrP). Os autores descrevem o caso de uma mulher de 85 anos, com antecedentes de bócio multinodular benigno, internada para esclarecimento etiológico de hipercalcemia grave, com manifestações neuropsiquiátricas, diagnosticando-se, após avaliação, carcinoma anaplásico da tireoide. O caso foi abordado em reunião multidisciplinar, optando-se por limitação terapêutica a cuidados paliativos. A doente faleceu 3 meses após o diagnóstico.(AU)


Hypercalcaemia should be considered in the differential diagnosis of acute neuropsychiatric disorders. In 90% of the cases, the etiology corresponds to primary hyperparathyroidism or neoplasms. Serum values above 14mg/dL and symptomatic are often indicative of a malignant cause. The anaplastic thyroid carcinoma consists of an undifferentiated tumor, with rapid progression and poor prognosis, which in some cases progresses from pre-existing benign or malignant thyroid diseases (dedifferentiation). Although the most frequent clinical presentation of these tumors consists of the development of a cervical mass, they can be diagnosed in the etiological clarification of metastases or paraneoplastic syndromes. Neoplasm-associated hypercalcaemia may occur in the context of bone metastasis, with release of cytokines, or through a humoral mechanism, mediated by the parathyroid hormone (PTHrP)-related protein. The authors describe the case of an 85-year-old woman with a history of multinodular benign goiter, hospitalized for etiological elucidation of severe hypercalcaemia with neuropsychiatric manifestations, with a final diagnosis of anaplastic thyroid carcinoma, after the diagnostic evaluation. The case was approached in a multidisciplinary meeting, and the therapeutic limitation to palliative care was chosen. The patient died 3 months after the diagnosis.(AU)


Subject(s)
Humans , Female , Aged, 80 and over , Thyroid Neoplasms/diagnosis , Thyroid Carcinoma, Anaplastic/diagnosis , Thyroid Carcinoma, Anaplastic/etiology , Hypercalcemia/etiology , Diagnosis, Differential
13.
Rev. méd. Chile ; 145(11): 1485-1489, nov. 2017. graf
Article in Spanish | LILACS | ID: biblio-902470

ABSTRACT

High-grade B-cell lymphomas with rearrangement of MYC, BCL-2 and/or BCL-6 were introduced by the update of the WHO classification of lymphoid neoplasms. They usually present unique morphological and molecular characteristics, with an aggressive clinical outcome and worse prognosis. We report a 48 year-old female patient presenting with B symptoms and enlarged lymph nodes. Blood count showed pancytopenia and peripheral blood smears showed large lymphoid cells, some with nuclei and vacuoles. LDH was 3524 g/L and serum calcium was 11.5 mg/dL. Flow cytometry immunophenotyping showed pathological mature B lymphocytes. Protein electrophoresis showed a slight monoclonal peak. The biopsy disclosed a triple expressor diffuse large B-cell lymphoma, arising from germinal center. FISH was positive for MYC, BCL-2 and BCL-6 (triple hit) with a clonal evolution. Conventional cytogenetics showed a complex karyotype. Chemotherapy was started with R-CHOP (Rituximab/cyclophosphamide/doxorubicin/vincristine/prednisone). She developed impaired consciousness; the brain CT scan showed a large brain mass. The patient died within 3 weeks.


Subject(s)
Humans , Female , Middle Aged , Translocation, Genetic/genetics , Lymphoma, Large B-Cell, Diffuse/genetics , Proto-Oncogene Proteins c-bcl-2/genetics , Proto-Oncogene Proteins c-bcl-6/genetics , Hypercalcemia/etiology , Tomography, X-Ray Computed , Lymphoma, Large B-Cell, Diffuse/complications , Lymphoma, Large B-Cell, Diffuse/pathology , Fatal Outcome , Karyotype
14.
Arch. endocrinol. metab. (Online) ; 61(5): 506-509, Sept.-Oct. 2017. graf
Article in English | LILACS | ID: biblio-887589

ABSTRACT

SUMMARY Neuroendocrine tumors (NETs) can secrete hormones, including ectopic secretions, but they have been rarely associated with malignant hypercalcemia. A 52-year-old man with a history of diabetes mellitus was diagnosed with a pancreatic tumor. A pancreatic biopsy confirmed a well-differentiated pancreatic NET (pNET). The patient subsequently developed liver metastasis and hypercalcemia with high 1,25 OH vitamin D and suppressed parathyroid hormone (PTH) levels. Hypercalcemia was refractory to chemotherapy, intravenous saline fluids, diuretics, calcitonin and zoledronate. Cinacalcet administration (120 mg/day) resulted in a significant calcium reduction. Hypocalcemia was observed when sunitinib was added three months later and cinacalcet was stopped. Subsequently, the calcium and PTH levels normalized. After six months, we observed 20% shrinkage of the pancreatic tumor and necrosis of a liver metastasis. Cinacalcet is an allosteric activator of the calcium receptor agonist, and it is used for severe hypercalcemia in patients with primary (benign and malignant) hyperparathyroidism. In this patient, cinacalcet demonstrated a calcium lowering effect, normalized hypophosphatemia, and improved the clinical condition of the patient. The mechanism through which cinacalcet improved PTH-rp mediated hypercalcemia is still unclear, but studies have suggested that a potential mechanism is the activation of calcitonin secretion. Sunitinib is an oral multi-targeted tyrosine kinase inhibitor used to treat advanced pNETs. The hypocalcemic effects of sunitinib have not been previously described in a patient with pNET. Here, we report for the first time the successful combination of cinacalcet and sunitinib in the treatment of a pNET patient presenting with malignant hypercalcemia.


Subject(s)
Humans , Male , Middle Aged , Pancreatic Neoplasms/drug therapy , Neuroendocrine Tumors/drug therapy , Cinacalcet/administration & dosage , Hypercalcemia/drug therapy , Indoles/administration & dosage , Antineoplastic Agents/administration & dosage , Pancreatic Neoplasms/complications , Pyrroles/administration & dosage , Neuroendocrine Tumors/complications , Drug Therapy, Combination , Sunitinib , Hypercalcemia/etiology
15.
J. bras. nefrol ; 39(2): 213-216, Apr.-June 2017. graf
Article in English | LILACS | ID: biblio-893748

ABSTRACT

Abstract Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia of unusual causes in children. The first patient had high fever, poor general condition, weight loss and myalgia. Extensive preliminary investigation did not define the etiology, but a review of medical history revealed prolonged contact with pet bird and a positive serology for Chlamydia confirmed the diagnosis of psittacosis. The second patient had generalized lymphadenopathy and hepatosplenomegaly with fever a month ago. Paracoccidioides brasiliensis was identified in myelogram; the patient showed partial improvement with the use of co-trimoxazole, with subsequent emergence of multiple osteolytic lesions. A smear of gastric lavage was positive for Mycobacterium tuberculosis and the patient was treated with rifampicin, isoniazid, ethambutol and pyrazinamide, with improvement of clinical condition. The third patient was treated by hypercalciuria and idiopathic hypomagnesiuria with daily use of cholecalciferol; the patient had a two quilograms of weight loss in the past two months. No cause of hypercalcemia could be detected in laboratory workout. The capsules of cholecalciferol were analyzed and presented an amount of 832,000 IU of vitamin D per capsule. Acute hypercalcemia in childhood may be due to exogenous vitamin D intoxication, as well as infectious causes. The possible causal relationship between psittacosis and occurrence of hypercalcemia alert to the need for detailed investigation of the epidemiological antecedents.


Resumo A hipercalcemia é uma condição pouco comum na infância; dentre as causas mais comuns destacam-se hiperparatireoidismo primário, neoplasia, imobilização prolongada, tireotoxicose, diurético tiazídico, suplementos contendo cálcio, síndrome leite-álcali, intoxicação por vitamina D, infecções e causa idiopática. Apresentamos três casos de hipercalcemia grave por causas incomuns em crianças. O primeiro paciente tinha história de febre alta acompanhada de queda do estado geral, emagrecimento e mialgia. Extensa investigação preliminar não definiu a etiologia, porém uma revisão da história clínica revelou contato prolongado com ave de estimação e uma sorologia positiva para clamídia confirmou o diagnóstico de psitacose. O segundo paciente apresentava adenomegalia generalizada e hepatoesplenomegalia acompanhadas de febre por um mês, tendo sido identificado Paracoccidioides brasiliensis no mielograma; o paciente apresentou melhora parcial com uso de sulfametoxazol+trimetoprima, com posterior surgimento de múltiplas lesões osteolíticas. Uma baciloscopia do lavado gástrico foi positiva para Mycobacterium tuberculosis, tratado com rifampicina, isoniazida, pirazinamida e etambutol, com boa evolução. O terceiro paciente já era acompanhado por hipercalciúria e hipomagnesiúria idiopáticas e fazia uso diário de colecalciferol; perdeu dois quilogramas nos últimos dois meses. Nenhuma causa de hipercalcemia pôde ser detectada nos exames laboratoriais. As cápsulas de colecalciferol foram analisadas e encontrou-se uma quantidade de 832.000 UI de vitamina D. A hipercalcemia aguda na infância pode ser decorrente de intoxicação exógena por vitamina D, bem como de causas infecciosas. A possível relação causal entre psitacose e ocorrência da hipercalcemia alerta para a necessidade de investigação detalhada dos antecedentes epidemiológicos.


Subject(s)
Humans , Male , Child , Hypercalcemia/diagnosis , Severity of Illness Index , Hypercalcemia/etiology , Hypercalcemia/therapy
16.
Rev. chil. cir ; 69(3): 247-251, jun. 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-844367

ABSTRACT

Introducción: El cáncer de paratiroides es poco frecuente. Suele presentarse como hiperparatiroidismo primario, en ocasiones como crisis hipercalcémica, con malestar general, náuseas, vómitos, alteraciones del ánimo y pérdida de peso. En algunos casos se presenta como osteítis fibrosa quística, osteopenia difusa, osteoporosis y fracturas patológicas. El diagnóstico suele estar dado por biopsia quirúrgica que muestra invasión a estructuras adyacentes, o metástasis locales y distantes. El tratamiento es la resección quirúrgica del tumor, sin uso de terapias adyuvantes. Su tasa de recurrencia es alta, de 25 a 100%. Algunos factores de mal pronóstico son metástasis a linfonodos en la presentación inicial, metástasis distantes y carcinomas no funcionantes. Caso clínico: Paciente masculino de 64 años que consultó por compromiso del estado general, bradipsiquia, poliuria, cefalea y masa cervical. Además presentaba hipercalcemia y gran elevación de PTH. Se realizó resección quirúrgica de la masa cervical, con biopsia rápida con atipias y mitosis 1/10, y de un nódulo hiperplásico tiroideo. Tras esto, sus niveles de PTH disminuyeron, así como también descendieron sus niveles de calcio. Discusión: Los pacientes que presentan cáncer de paratiroides suelen tener valores más elevados de calcemia y PTH. Para su diagnóstico, no se recomienda usar biopsia por punción, por riesgo de diseminación y por el bajo rendimiento de esta técnica. Conclusión: Pese a ser poco frecuente, se debe pensar en cáncer de paratiroides en el contexto de un paciente con hipercalcemia, especialmente si presenta PTH muy elevada. La sospecha clínica de este diagnóstico tiene directa relación con la posibilidad de tratamiento y pronóstico de la enfermedad.


Introduction: Parathyroid cancer is rare. Usually presented as primary hyperparathyroidism, sometimes as hypercalcemic crisis, with general malaise, nausea, vomiting, mood disturbances and low weight. In some cases it occurs as osteitis fibrosa cystica, diffuse osteopenia, osteoporosis and pathological fractures. The diagnosis is usually made by surgical biopsy shows invasion of adjacent structures, or local and distant metastases. The treatment is surgical resection of the tumor, without the use of adjuvant therapies. Their recurrence rate is high, 25 to 100%. Poor prognostic factors are lymph node metastases at initial presentation, distant metastases and nonfunctional carcinomas. Case report: Male patient consulted for 64 years in general conditions, bradypsychia, polyuria, headache and neck mass. He also had hypercalcemia and high elevation of PTH. Surgical resection of the cervical mass was performed, with rapid biopsy atypia and mitosis 1/10, and hyperplastic thyroid nodule. After this, PTH decreased levels as well as levels of calcium. Discussion: Patients with parathyroid cancer tend to have higher serum calcium and PTH of values. For diagnosis, it is not recommended to use needle biopsy, risk of spread and the poor performance of this technique. Conclusion: Despite being rare, you should think parathyroid cancer in the context of a patient with hypercalcemia, especially if you have very high PTH. The clinical suspicion of this diagnosis is directly related to the possibility of treatment and prognosis of the disease.


Subject(s)
Humans , Male , Middle Aged , Carcinoma/pathology , Carcinoma/surgery , Hypercalcemia/etiology , Parathyroid Neoplasms/pathology , Parathyroid Neoplasms/surgery , Carcinoma/complications , Parathyroid Neoplasms/complications
17.
Actual. osteol ; 13(1): 69-79, Ene - Abr. 2017. graf, tab
Article in Spanish | LILACS | ID: biblio-1119104

ABSTRACT

El hiperparatiroidismo familiar y la hipercalcemia hipocalciúrica familiar (HHF) constituyen un subgrupo heterogéneo de trastornos con herencia mendeliana, que representan en conjunto el 5% de las causas de hipercalcemia PTH dependiente. La HHF se asocia con mutaciones del gen del receptor sensor de calcio (CaSR). Esta entidad se manifiesta, en la mayoría de los casos, con la presentación asintomática y familiar de hipercalcemia e hipocalciuria y valores elevados o normales de hormona paratiroidea (PTH). Los avances en la biología molecular han contribuido al diagnóstico, evaluación del fenotipo de cada entidad y elección del tratamiento. Se describe el caso de una paciente con hipercalcemia estudiada a partir de una tumoración de cuello asociada con una glándula paratiroides quística. Luego de un exhaustivo proceso diagnóstico se halló en el estudio genético una mutación inactivante en el gen CaSR. Teniendo en cuenta la presencia de la relación clearance calcio/clearance creatinina <0,01 y la falta de respuesta al tratamiento quirúrgico, se consideró la entidad de HHF con forma de presentación atípica. La paciente, sin tratamiento, presentaba un progresivo incremento de la calcemia luego de la cirugía de las glándulas paratiroides, que no se controló con el uso de bifosfonatos y evolucionó con episodios de mareos y desmayos frecuentes sin causa neurológica o cardiovascular detectada. Por lo tanto, se inició el tratamiento con cinacalcet, con el cual se obtuvo una buena respuesta terapéutica: descenso de la calcemia y mejoría de la sintomatología luego de un año de su comienzo. El cinacalcet es una herramienta terapéutica de importancia en estos raros casos de HHF. (AU)


Familial hyperparathyroidism including familial hypocalciuric hypercalcemia (FHH) is an heterogeneous subgroup of disorders with Mendelian inheritance, that account for 5% of PTH dependent hypercalcemia. FHH is associated with mutations of the calcium receptor (CaSR) gene. This entity is manifested by hypercalcemia with hypocalciuria and high or normal levels of parathyroid hormone (PTH) generally asymptomatic and with familial presentation. Advances in molecular biology have contributed to the diagnosis, evaluation of the phenotype of each entity and the choice of treatment. We describe a patient with hypercalcemia diagnosed following the finding of a neck tumor associated with cystic parathyroids. After an exhaustive diagnostic process, an inactivating mutation in the CaSR gene was found. Considering the presence of a ratio clearance calcium / clearance creatinine <0.01 and the lack of response to surgical treatment, HHF entity with atypical presentation was considered. The patient exhibited progressive increase in serum calcium following parathyroid surgery, which was not controlled with the use of bisphosphonates and evolved into episodes of frequent dizziness and fainting, without neurological or cardiovascular causes. Treatment with cinacalcet was initiated, with a good therapeutic response. The use of cinacalcet is a useful therapeutic tool in these rare cases of FHH. (AU)


Subject(s)
Humans , Female , Adolescent , Receptors, Calcium-Sensing/genetics , Cinacalcet/pharmacology , Hypercalcemia/genetics , Parathyroid Hormone/blood , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Glands/surgery , Vitamin D/blood , Calcium/urine , Calcium/blood , Polymerase Chain Reaction , Hypophosphatemia/blood , Creatinine/blood , Receptors, Calcium-Sensing/physiology , Diagnosis, Differential , Diphosphonates/therapeutic use , Cinacalcet/administration & dosage , Hypercalcemia/diagnosis , Hypercalcemia/etiology , Hypercalcemia/metabolism , Hypercalcemia/drug therapy
18.
Arch. endocrinol. metab. (Online) ; 61(1): 98-102, Jan.-Feb. 2017. tab, graf
Article in English | LILACS | ID: biblio-838416

ABSTRACT

SUMMARY Paraneoplastic syndromes are a heterogeneous group of malignant diseases caused by events which involve endocrine, immune and metabolic aspects and whose symptoms vary according to the substance produced and the primary tumor. Hypercalcemia is a frequent complication in cancer patients. Prognosis of cancer patients with hypercalcemia is usually poor. A factor called parathyroid hormone related peptide, whose actions are similar to those of the parathyroid hormone, is thought to be the most common cause of malignancy associated hypercalcemia. Non-islet hypoglycemic cell tumor consists of a rare syndrome characterized by the presence of a solid tumor and severe fasting hypoglycemia determined by an insulin-independent pathway. We report a case of a 59-year-old-man with a renal tumor and a T-cell rich large B cell lymphoma who was hospitalized due to severe hypercalcemia and hypoglycemia. The laboratory examination reported hypercalcemia with inhibited PTH and hypoglycemia with inhibited insulin secretion, arriving to the conclusion of tumoral peptide production. He received denosumab and corticoid therapy. The patient died one month later despite initial improvement after medical treatment. While a single paraneoplastic manifestation may be expected in most tumors, the coexistence of two or more of them is rare, except in hepatocellular carcinomas, and it has not yet been described in renal tumors.


Subject(s)
Humans , Male , Middle Aged , Paraneoplastic Syndromes/etiology , Lymphoma, B-Cell/complications , Hypercalcemia/etiology , Hypoglycemia/etiology , Kidney Neoplasms/complications , Paraneoplastic Syndromes/diagnosis , Fatal Outcome , Hypercalcemia/diagnosis , Hypoglycemia/diagnosis
19.
Arch. argent. pediatr ; 114(1): e13-e16, feb. 2016. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-838168

ABSTRACT

La hipotermia terapéutica constituye el tratamiento de elección para los recién nacidos con encefalopatía hipóxico-isquémica moderada-grave, que cambia el pronóstico de estos niños y se acepta como una técnica segura y con escasas complicaciones secundarias considerando su beneficio. Un posible efecto adverso es la necrosis grasa subcutánea, una paniculitis transitoria aguda de presentación durante las primeras semanas de vida. Se presenta un caso de un recién nacido a término afecto de encefalopatía hipóxico-isquémica con lesiones cutáneas en forma de eritema multiforme generalizado y placas eritematosas firmes e induradas en la espalda, los glúteos y las extremidades a los 12 días de vida, tras el tratamiento con hipotermia. El estudio histopatológico, tras la biopsia cutánea, confirmó la sospecha de necrosis grasa subcutánea. Al mes de vida, presentó cifras elevadas de calcio sérico, que precisaron tratamiento con hidratación intravenosa y diuréticos. La calcemia descendió hasta normalizarse a los 3 meses, con desaparición progresiva de las lesiones cutáneas.


Therapeutic hypothermia is the current standard treatment in newborns with moderate to severe hypoxic-ischemic encephalopathy, changing the outcome of these children. It is considered a safe technique with almost no side effects. A possible adverse side event is subcutaneous fat necrosis, which is an acute self-limiting panniculitis that develops during the first weeks of life. We report a case of a newborn at term suffering hypoxic-ischemic encephalopathy with a generalized multiform erythematous rash and firm and indurated plaques over the back, buttocks and extremities on his 12th day of life after being treated with therapeutic hypothermia. Histopathological study after skin punchbiopsy confirmed the suspicion of subcutaneous fat necrosis. The infant developed asymptomatic moderate hypercalcaemia within the first month of life, which was treated with intravenous fluids and diuretics. Serum calcium levels decreased and normalized in 3 months, with progressive disappearance of skin lesions.


Subject(s)
Humans , Infant, Newborn , Hypoxia-Ischemia, Brain/therapy , Subcutaneous Fat/pathology , Exanthema/etiology , Fat Necrosis/etiology , Hypercalcemia/etiology , Hypothermia, Induced/adverse effects
20.
Arch. argent. pediatr ; 113(4): e207-e210, ago. 2015. ilus, graf, tab
Article in Spanish | LILACS, BINACIS | ID: lil-757048

ABSTRACT

La hipercalcemia asociada a procesos tumorales es un hallazgo poco frecuente en la edad pediátrica. El manejo terapéutico va encaminado a favorecer la calciuresis con diversos métodos farmacológicos e, incluso, técnicas de depuración extrarrenal. El objetivo de la exposición de este caso clínico es presentar a un paciente con hipercalcemia grave refractaria, que solo respondió a un tratamiento etiológico precoz con el empleo de quimioterapia, y se evitaron así las posibles complicaciones secundarias a dicha alteración electrolítica.


Hypercalcemia as a paraneoplastic syndrome is rare in children. Therapeutic management is aimed at promoting calciuresis with various pharmacological methods, even with extrarenal purification techniques. The aim of presenting this case is to highlight the importance of early etiologic treatment through chemotherapy as an urgent treatment in a refractory and severe hypercalcemia case, in order to avoid possible secondary complications due to this electrolyte disturbance.


Subject(s)
Humans , Male , Child , Paraneoplastic Syndromes/etiology , Lymphoma, Large B-Cell, Diffuse/complications , Emergencies , Hypercalcemia/etiology
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