ABSTRACT
To review the diagnosis and treatment of a case of hypercalcium crisis caused by primary hyperparathyroidism（PHPT） and prophylactic treatment of hungry bone syndrome. In a 32-year-old male with hypercalcemia, the main manifestations were loss of appetite, nausea, polyuria, polydipsia, fatigue, lethargy, etc. parathyroid hormone, serum calcium increased, thyroid function was normal, thyroid color ultrasound and MRI showed space-occupying behind the right thyroid, radionuclide examination showed abnormal imaging agent concentration in the right parathyroid area, there was a history of pathological fracture. Clinically diagnosed as hypercalcemia crisis secondary to PHPT.
Subject(s)
Male , Humans , Adult , Hypercalcemia/diagnosis , Hyperparathyroidism, Primary/surgery , Parathyroid Hormone , Hypocalcemia/complications , Thyroid Gland , CalciumABSTRACT
La crisis hipercalcémica (CH) es una emergencia endocrina inusual, definida por la presencia de calcemia > 14 mg/dl asociada a disfunción renal, alteraciones cardiovasculares, gastrointestinales y del sensorio; también podría considerarse en pacientes con síntomas graves y calcemia menor. El hiperparatiroidismo primario (HPTP) y las neoplasias malignas son las etiologías más comunes de la hipercalcemia (90% de los casos); sin embargo, rara vez el primero se presenta como CH. Debido a la alta mortalidad asociada a esta entidad, es de gran importancia establecer diagnóstico y tratamiento precoces. Presentamos dos pacientes con crisis hipercalcémica como primera manifestación del HPTP, el 1.° con bloqueo auriculoventricular (AV) completo y el 2.° con pancreatitis aguda. La anatomía patológica (AP) reveló adenoma oxifílico en ambos casos, que es una variante histológica poco frecuente y puede manifestarse clínicamente de forma grave. Conclusiones: los adenomas paratiroideos son causa poco frecuente de CH. Consideramos el tipo histológico observado (adenoma oxifílico) como probable factor condicionante. La pancreatitis y especialmente el bloqueo AV son manifestaciones poco frecuentes de la CH. Resaltamos la importancia de la determinación de los niveles de calcio dentro de la evaluación inicial de todo paciente con bloqueo AV. (AU)
Hypercalcemic crisis (HC) is an unusual endocrine emergency, defined as the presence of serum calcium > 14 mg/dl related to kidney dysfunction, cardiovascular, gastrointestinal and sensory disturbances. It could also be considered in patients with severe symptoms and lower serum calcium levels. Primary hyperparathyroidism (PHPT) and malignant neoplasms are the most common hypercalcemia etiologies (90% of cases), nevertheless, the former hardly ever occurs as HC. Due to the high mortality associated with HC, it is crucial to establish early diagnosis and treatment.We report two patients with HC as the first manifestation of PHPT; the former with atrioventricular (AV) block and the latter with acute pancreatitis. Pathology revealed oxyphilic adenoma in both cases, which is an infrequent histological variant that can have a severe clinical manifestation. Conclusions: parathyroid adenomas are a rare cause of HC. We consider the histological type observed (oxyphilic adenoma) as a probable conditioning factor. Pancreatitis and especially AV block are rare manifestations of HC. We emphasize the importance of determining calcium levels in the initial evaluation of all patients with AV block. (AU)
Subject(s)
Humans , Male , Female , Aged , Parathyroid Neoplasms/complications , Adenoma/complications , Hyperparathyroidism, Primary/complications , Hypercalcemia/diagnosis , Pancreatitis/etiology , Parathyroid Hormone/analysis , Parathyroid Neoplasms/pathology , Adenoma/pathology , Calcium/blood , Oxyphil Cells/pathology , Atrioventricular Block/etiology , Hypercalcemia/etiologyABSTRACT
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/diagnosisABSTRACT
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 , PediatricsABSTRACT
Abstract Fortification of food products with vitamin D was central to the eradication of rickets in the early parts of the 20th century in the United States. In the subsequent almost 100 years since, accumulating evidence has linked vitamin D deficiency to a variety of outcomes, and this has paralleled greater public interest and awareness of the health benefits of vitamin D. Supplements containing vitamin D are now widely available in both industrialized and developing countries, and many are in the form of unregulated formulations sold to the public with little guidance for safe administration. Together, this has contributed to a transition whereby a dramatic global increase in cases of vitamin D toxicity has been reported. Clinicians are now faced with the challenge of managing this condition that can present on a spectrum from asymptomatic to acute life-threatening complications. This article considers contemporary data on vitamin D toxicity, and diagnostic and management strategies relevant to clinical practice.
Resumo A suplementação de produtos alimentares com vitamina D foi fundamental para a erradicação do raquitismo no início do século XX nos Estados Unidos. Nos quase 100 anos subsequentes, o acúmulo de evidências vinculou a deficiência de vitamina D a uma variedade de desfechos, e isso tem levantado grande interesse público e conscientização dos benefícios à saúde da vitamina D. Os suplementos que contêm vitamina D estão agora amplamente disponíveis tanto nos países desenvolvidos quanto naqueles em desenvolvimento, e muitos estão na forma de formulações não regulamentadas, vendidas ao público com poucas orientações para uma administração segura. Juntos, isso contribuiu para uma transição na qual um aumento global dramático nos casos de toxicidade da vitamina D tem sido relatado. Médicos agora enfrentam o desafio de tratar essa condição que pode apresentar um espectro de complicações assintomáticas a agudas, com risco de vida. Este artigo considera dados atualizados sobre a toxicidade da vitamina D e estratégias de diagnóstico e manejo relevantes para a prática clínica.
Subject(s)
Humans , Male , Aged , Rickets/prevention & control , Vitamin D/toxicity , Dietary Supplements/toxicity , Acute Kidney Injury/chemically induced , Rickets/epidemiology , Vitamin D Deficiency/complications , Vitamin D Deficiency/drug therapy , Treatment Outcome , Dietary Supplements/supply & distribution , Withholding Treatment , Acute Kidney Injury/therapy , Hypercalcemia/complications , Hypercalcemia/diagnosis , Hypercalcemia/chemically induced , Hypercalcemia/therapyABSTRACT
ABSTRACT Sarcoidosis is a multisystem granulomatous disease characterized by epithelioid noncaseating granulomas associated with clinical and radiologic findings. The cause of this disease is still uncertain. Sarcoidosis affects mostly lungs and lymph nodes and is not usually considered a urological disease, therefore, this etiology may be overlooked in several urological disorders, such as hypercalcemia, hypercalciuria and nephrolithiasis. It affects all races and genders. This review aims to describe the urological manifestations of sarcoidosis and to elucidate how the disease may affect the management of numerous urological conditions.
Subject(s)
Humans , Sarcoidosis/pathology , Kidney Diseases/pathology , Sarcoidosis/diagnosis , Sarcoidosis/therapy , Biopsy , Chronic Disease , Hypercalciuria/diagnosis , Hypercalciuria/pathology , Hypercalcemia/diagnosis , Hypercalcemia/pathology , Kidney Diseases/diagnosis , Kidney Diseases/therapyABSTRACT
Un paciente de 12 años consultó por vómitos recurrentes asociados con cefaleas, con varios episodios durante 7 meses, y retraso ponderal secundario a esa sintomatología. Había recibido previamente un tratamiento con antibióticos e inhibidores de la bomba de protones, por diagnóstico de gastritis a Helicobacter pylori, después de biopsia gástrica realizada durante una videoendoscopía digestiva alta. Se desconoce su historia familiar porque es hijo adoptivo. Al examen físico el paciente estaba adelgazado, sin tumoración a nivel de cuello; presentaba genitales prepuberales. Como el paciente continuó con vómitos cíclicos recurrentes, siguieron exámenes complementarios donde se constató en 2 oportunidades hipercalcemia (13,2-13,6 mg/dl), acompañada de hipofosfatemia (2,7 mg/dl). Con un diagnóstico presuntivo de hiperparatiroidismo primario se realizaron dosajes de laboratorio: calcemia total e iónica elevada (12,1 y 5,6mg/dl respectivamente), fosfatemia baja (2,8 mg/dl), fosfatasa alcalina sérica normal (151 mU/ml), PTH sérica normal (47,1 pg/ml), 25(OH)vitamina D sérica adecuada (22 ng/ml). La ecografía de glándulas tiroides y paratiroides mostró una imagen redondeada hipoecoica, avascular, de 4 mm axial por 4 mm cefalocaudal, por 3 mm ánteroposterior en topografía paratiroidea derecha, planteándose la posibilidad de hipertrofia paratiroidea versus adenopatía. Se realizó estudio de paratiroides por imágenes: centellograma con 99mTc-MIBI y PET-CT con 18F-colina, pero no se constató captación anormal. Se realizaron nuevos estudios de laboratorio: en orina de 24 horas el calcio era de 19 mg, el cociente calcio/creatinina urinaria 0,03 mg/mg, la reabsorción tubular de fósforo normal (82%) y el cociente de las tasas de depuración de calcio y creatinina muy bajo (0,00046). El CTX sérico era bajo. El diagnóstico clínico fue de hipercalcemia hipocalciúrica; ante la falta de antecedentes familiares, se realizó un estudio de posibles mutaciones puntuales en el gen del receptor de calcio (CaSR), hallándose la presencia en heterocigosis de la mutación p.Arg185Gln (p.R185Q) en la posición 554 (c.554G>A) del exón 4 del gene CaSR. Esto implica el cambio de una arginina por glutamina en el codón 185 de la proteína, y confirma el origen genético de la hipercalcemia hipocalciúrica en nuestro paciente. La edad ósea era de 12 años, y se indicó un tratamiento con testosterona i.m. a bajas dosis para acelerar el desarrollo puberal; luego de 4 aplicaciones mensuales su talla se ha incrementado en 4 cm y su peso en 3 kg. Una aplicación subcutánea de denosumab (60 mg) no controló la hipercalcemia. Continuó por un año con hipoorexia y un episodio de vómitos por semana, pero actualmente tiene buen apetito y excelente tolerancia digestiva. Se le ha prescripto cinacalcet oral (AU)
A 12-year-old patient who consulted for recurrent vomiting associated with headaches, with several episodes for 7 months, and low body weight. The patient had previously received treatment with antibiotics and proton pump inhibitors, due to gastritis with Helicobacter pylori, after gastric biopsy performed during videoendoscopy. His family history is unknown because he is an adopted son. At physical examination the patient was thin, without neck tumor; he had prepubertal genitalia. As he patient continued with recurrent vomiting, he was admitted for further evaluation. Laboratory studies revealed hypercalcemia (13.2-13.6 mg/dl), accompanied by hypophosphatemia (2.7 mg/dl). With a presumptive diagnosis of primary hyperparathyroidism, complementary determinations were performed: total and high total and ionized serum calcium (12.1 and 5.6 mg/dl, respectively), normal serum alkaline phosphatase (151 mU/ml), and PTH (47.1 pg/ml), and normal serum 25(OH) vitamin D (32 ng/ml). The ultrasonography of thyroid and parathyroid glands showed a rounded hypoechoic, avascular image, 4 mm in diameter in the lower right parathyroid topography. A parathyroid imaging studies were performed: scintigraphy with 99mTc-MIBI and PET-CT with 18F-choline, but no abnormal uptake was observed. New laboratory studies were carried out: in 24-hour urine the calcium was 19 mg, the urinary calcium/creatinine ratio was 0.03 mg/mg, the tubular reabsorption of phosphorus was normal (82%) and the ratio of clearances rates of calcium and creatinine very low (0.00046). Serum CTX was low. The clinical diagnosis was hypocalciuric hypercalcemia; in the absence of a family history, a study of possible point mutations in the calcium receptor gene (CaSR) was carried out; there was a heterozygous mutation: p.Arg185Gln (p.R185Q) at position 554 (c.554G)>A) of exon 4 of the CaSR gene. This involves the exchange of an arginine for glutamine at codon 185 of the protein, and confirms the genetic origin of the hypocalciuric hypercalcemia in our patient. Bone age was 12 years, and a treatment with testosterone i.m. at low doses to accelerate pubertal development was started; after 4 monthly applications height has increased by 4 cm and weight by 3 kg. Loss of appetite and a weekly episode of postprandial vomiting continued during one yeas, but now his appetite is normal and vomiting has subsided. A subcutaneous application of denosumab (60 mg) did not control hypercalcemia. He has been prescribed oral cinacalcet (AU)
Subject(s)
Humans , Male , Child , Receptors, Calcium-Sensing/genetics , Cinacalcet/therapeutic use , Hypercalcemia/diagnosis , Hypercalcemia/genetics , Genetic Diseases, InbornABSTRACT
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/etiologyABSTRACT
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 , MutationABSTRACT
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/etiologyABSTRACT
Introducción: El hiperparatiroidismo primario es una enfermedad común y con una distribución similar en todo el mundo. El propósito del estudio fue establecer si la presentación clínica y bioquímica, así como los resultados de su tratamiento quirúrgico, difieren en un país en vías de desarrollo, que no cuenta con todos los recursos diagnósticos y terapéuticos recomendados actualmente. Metodología: Análisis retrospectivo de pacientes operados por un mismo equipo, entre 1992 y 2015. Se obtuvo información sobre presentación clínica, resultados de estudios preoperatorios, procedimientos quirúrgicos, diagnóstico histopatológico y evolución postoperatoria. Resultados: Se operaron 55 pacientes con edad promedio de 45 años, 78% mujeres. El 65% eran sintomátcos. El valor promedio preoperatorio de calcio sérico fue 11.2 mg/dl, PTH 167.1 pg/ml, fósforo 2.6 mg/ dl, 25-hidroxi vitamina D 17.3 ng/ml y calcio urinario de 24 horas 294.7 mg. Al 59% se realizó estudios de localización preoperatoria. La sensibilidad del ultrasonido fue 57.14% y 75% para centellografa con tecnecio sestamibi. La positividad de los estudios de localización determinó el tipo de exploración quirúrgica (p=0.02). Se practcaron 27 (49%) exploraciones unilaterales y 28 (51%) bilaterales, resecando 47 (85.5%) adenomas solitarios y 3 ½ glándulas en 7 (12.7%) casos de hiperplasias. En 27 (36%) coexista patología tiroidea. Las tasas de curación, persistencia y recurrencia fueron 94.5%, 5.5% y 3.6% respectivamente. Conclusiones: La mayoría de nuestros pacientes operados son jóvenes y sintomátcos. La estrategia quirúrgica fue condicionada por los estudios de localización. Nuestras tasas de curación, persistencia y recurrencia son comparables a las reportadas.
Background: Primary hyperparathyroidism (HPTP) is a common disease with widespread distribution around the world. The aim of this study was to establish if clinical and biochemical disease characteristics and long term results differ in patents with HPTP in a low-middle income country without all recommended diagnostc and therapeutc resources. Methods: Retrospective collection of clinical diagnosis, biochemical, operative details, histology and long term results of all surgically treated patents with HPTP, from 1992 to 2015, by the same surgical team. Results: 55 patents with HPTP were analyzed. Average age is 45 years old with 78% of female patents. Sixty five percent were symptomatic. The mean preoperative serum calcium level was 11.2 mg/dl, PTH 167.1 pg/ml, phosphorus 2.6 mg/ dl, vitamin D 17.3 ng/ml and 24 hour urinary calcium 294.7 mg. Fifty nine percent of the patents had preoperative imaging. Ultrasound and sestamibi scan sensitivity was 57.1% and 75% respectively. Unilateral localization in preoperative imaging determined surgical exploration (p=0.02). Unilateral approach was used in 27 (49%) patents and bilateral in 28 (51%); 47 (85.5%) solitary adenomas and 7 (12.7%) 3 ½ gland resections of hyperplastic glands were performed. Thyroid pathology co-existed in 27 (36%) patients. Cure, persistence and recurrence rates were 94.5%, 5.5% y 3.6% respectively. Conclusions: In this study most of the patents were young and symptomatc. Surgical strategy was determined by preoperatve imaging. Cure, persistence and recurrence rates were comparable to published literature.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Calcium Metabolism Disorders/complications , Hypercalcemia/diagnosis , Hyperparathyroidism, Primary/surgery , Phosphorus Metabolism Disorders/complications , Thyroid Gland/pathology , Thyroid Neoplasms/surgery , Retrospective StudiesABSTRACT
La hipercalcemia es un trastorno común que representa aproximadamente el 0,6% de todas las admisiones médicas agudas. El hiperparatiroidismo primario (HPTP) y las neoplasias malignas son las dos causas más comunes de elevación de los niveles séricos de calcio; constituyen, en conjunto, alrededor del 90% de todos los casos. La presentación sintomática clásica de la hipercalcemia se observa con relativa poca frecuencia en el mundo desarrollado; la presentación más común es la detección asintomática en las pruebas bioquímicas. Sin embargo, en casos raros, el HPTP puede desarrollar hipercalcemia aguda, grave y sintomática, llamada crisis hipercalcémica (CH). Esta condición se asocia a alteraciones profundas en el estado mental y las funciones cardíaca, renal y gastrointestinal en presencia de concentraciones marcadamente elevadas de calcio sérico y paratohormona (PTH). Mientras que algunas elevaciones en el calcio sérico pueden ser bien toleradas, los síntomas de la CH son severos. Si el tratamiento se retrasa, la CH puede provocar la muerte. Describimos el caso de un paciente masculino que ingresa en la unidad de cuidados críticos por una CH secundaria a un HPTP por adenoma paratiroideo. (AU)
Hypercalcaemia is a most common disorder, accounting for approximately 0,6% of all acute medical admissions. Primary hyperparathyroidism (PHPT) and malignancy are the two most common causes of increased serum calcium levels, together accounting for about 90% of all cases. The classical symptomatic presentation of hypercalcaemia is seen relatively rarely in the developed world, the most common presentation being asymptomatic and detected following on biochemical testing. However, in rare cases HPTP can result in acute, severe and symptomatic hypercalcemia, called hypercalcemic crisis (HC). This condition is associated with profound disturbances in mental status, and cardiac, renal, and gastrointestinal function in the presence of markedly increased serum calcium and parathyroid hormone (PTH) concentrations. While some elevations in serum calcium can be well tolerated, symptoms of HC are severe. If treatment is delayed, HC can result in death. We describe herein a case of a male patient who was admitted to the intensive care unit as a consequence of HC resulting from elevated PTH, secondary to a parathyroid adenoma. We describe the case of a male patient who was admitted to the critical care unit for a HC mediated by PTH secondary to a parathyroid adenoma. (AU)
Subject(s)
Humans , Male , Middle Aged , Parathyroid Neoplasms/complications , Parathyroid Glands/pathology , Hyperparathyroidism, Primary/complications , Hypercalcemia/chemically induced , Parathyroid Hormone/metabolism , Parathyroid Hormone/blood , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Glands/surgery , Vitamin D Deficiency/blood , Calcitriol/administration & dosage , Calcium Gluconate/administration & dosage , Weight Loss , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Calcium/administration & dosage , Calcium/blood , Renal Dialysis , Cholecalciferol/administration & dosage , Dehydration , Diuretics/administration & dosage , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/diagnosis , Cinacalcet/administration & dosage , Pamidronate/administration & dosage , Crystalloid Solutions/administration & dosage , Hypercalcemia/diagnosis , Hypercalcemia/drug therapy , Hypercalcemia/bloodABSTRACT
Hiperparatireoidismo associado a hipercalcemia causando bradicardia significativa é uma combinação rara. Relatamos o caso de uma paciente de 62 anos de idade em pré-operatório de paratireoidectomia total decorrente de hiperparatireoidismo primário sintomático, que evoluiu com bloqueio atrioventricular avançado percebido durante a internação. A paciente necessitou de implante de marcapasso definitivo, pois permaneceu com bloqueio cardíaco avançado mesmo após correção da hipercalcemia
The combination of hyperparathyroidism and hypercalcemia leading to significant bradycardia is rare. Here we report the case of a 62-year -old female patient in the preoperatory of a total parathyroidectomy due to symptomatic primary hyperparathyroidism, which evolved with an advanced atrioventricular block during hospitalization. The patient required a definitive pacemaker implantation, since the advanced heart block persisted after the correction of hypercalcemia
Subject(s)
Humans , Female , Middle Aged , Atrioventricular Block , Hyperparathyroidism/diagnosis , Bradycardia/diagnosis , Calcium , Electrocardiography/methods , Hypercalcemia/diagnosis , Pacemaker, ArtificialABSTRACT
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/therapyABSTRACT
El hiperparatiroidismo primario puede tener diferentes características. Una de ellas es la forma asintomática. Esta es una variante leve del hiperparatiroidismo primario hipercalcémico, que se caracteriza por una calcemia no mayor a 1 mg/dl sobre el límite superior del método, hormona paratiroidea intacta (PTHi) elevada, ausencia de litiasis renal, deterioro de la función renal y de osteoporosis, edad menor de 50 años, y calciuria menor a 400 mg/día. No es una entidad quirúrgica, pero en su evolución puede llegar a serlo. Se estudiaron 24 mujeres postmenopáusicas, todas mayores de 50 años, con diagnóstico de hiperparatiroidismo asintomático, se describieron las manifestaciones clínicas, los cambios densitométricos, los parámetros bioquímicos y del remodelado óseo y se compararon los resultados con las variantes clásica y normocalcémica de la enfermedad. Se establecieron los criterios diagnósticos y se observó que solo 2 (8.3%) de las pacientes, durante un seguimiento de 44 ± 12 meses tuvo necesidad de paratiroidectomía. En definitiva, el hiperparatiroidismo primario asintomático es una alteración benigna, de seguimiento clínico periódico que, en pocas ocasiones, durante el seguimiento puede requerir cirugía.
Primary hyperparathyroidism may have different characteristics. One is the asymptomatic form. This is a mild variant of hypercalcemic hyperparathyroidism, characterized by a calcemia not greater than 1 mg/dl above the upper limit of the method, a high intact parathyroid hormone (iPTH), absence of renal stones, renal function impairement, and osteoporosis, less than 50 years of age, and less than 400 mg/day calciuria. It is not a surgical entity, but its evolution may require it. Twenty-four postmenopausal women, all older than 50 years, with a diagnosis of asymptomatic hyperparathyroidism, were studied. Clinical manifestations, densitometric changes, biochemical parameters and bone remodeling were analyzed and the results were compared with the classic and normocalcemic variants of the disease. Diagnostic criteria were established and observed that only 2 (8.3%) of patients, during a follow up of 44 ± 12 months, had need for a parathyroidectomy. In conclusion, the asymptomatic primary hyperparathyroidism is a benign disorder, of periodic clinical follow-up, which rarely may require surgery.
Subject(s)
Humans , Male , Female , Middle Aged , Aged , Aged, 80 and over , Osteoporosis/diagnosis , Bone Diseases, Metabolic/diagnosis , Hyperparathyroidism, Primary/diagnosis , Asymptomatic Diseases , Hypercalcemia/diagnosis , Osteoporosis/metabolism , Parathyroid Hormone/metabolism , Bone Diseases, Metabolic/metabolism , Biomarkers/metabolism , Calcium/metabolism , Prospective Studies , Diagnosis, Differential , Hyperparathyroidism, Primary/metabolism , Hypercalcemia/metabolismABSTRACT
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 therapyABSTRACT
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/diagnosisABSTRACT
Background: Knowledge about the variability in the request of calcium-phosphate metabolism laboratory tests in primary care is important to design strategies to improve health system efficiency. Aim: To compare the inter-practice variability in calcium-phosphate metabolism laboratory tests requested by general practitioners from diverse regions across Spain. Material and Methods: One hundred and forty one clinical laboratories were invited to participate in an observational cross-sectional study. They informed the number of serum calcium, phosphate, parathyroid hormone and 25-hydroxyvitamin D requested by general practitioners. Appropriateness indicators were calculated as number of test requests per 1,000 inhabitants and ratio of related tests requests. The differences according to hospital setting, region and type of management were analyzed. Results: We recruited 76 laboratories (17,679,195 inhabitants). General practitioners requested 3,260,894 calcium-phosphate metabolism tests. The rate of request ranged from 2.97 per 1,000 inhabitants for 25-hydroxyvitamin D to 98.89 per 1,000 inhabitants for calcium. The rates of request for calcium, phosphate, parathyroid hormone in some areas were 30, 100 and 340 times higher than in other areas. Parathyroid hormone and 25-hydroxyvitamin D were highly requested in private management areas. There were also differences in phosphate, parathyroid hormone and 25-hydroxyvitamin D requesting between regions across Spain. Conclusions: The high variability observed is difficult to explain by differences in patient case mix between regions. Depending on the area, calcium could be under requested to detect primary hyperparathyroidism.
Objetivo: Conocer la variabilidad en la solicitud de pruebas de laboratorio en atención primaria es importante para diseñar estrategias que mejoren la eficiencia del sistema de salud. La propuesta de este estudio fue comparar la variabilidad en la solicitud de pruebas para la evaluación del metabolismo fosfocálcico por médicos de atención primaria de diversas regiones de España. Material y Método: Se invitó a participar a 141 laboratorios clínicos de diversas regiones españolas. Completaron una encuesta con el número de determinaciones de calcio, fósforo, hormona paratiroidea y 25-hidroxivitamina D solicitadas por médicos de atención primaria de sus áreas. Se calcularon las tasas en relación a la población y se construyeron indicadores de adecuación. Los resultados se compararon por características del hospital, región y tipo de gestión. Resultados: Obtuvimos los datos de 76 laboratorios (17.679.195 habitantes). Los médicos de atención primaria solicitaron 3.260.894 pruebas de metabolismo fosfocálcico. La tasa de solicitud varió de 2,97 por 1.000 habitantes de 25-hidroxivitamin D a 98,89 por 1.000 habitantes de calcio. Las tasas de calcio, fósforo, hormona paratiroidea en algunas áreas fue 30, 100 y 340 veces más alta respecto a otras. Hormona paratiroidea y 25-hidroxivitamina D fueron más solicitadas significativamente en hospitales con gestión privada. También hubo diferencias en fósforo, hormona paratiroidea y 25-hidroxivitamina D solicitas entre distintas regiones de España. Discusión: La alta variabilidad observada es difícil de explicar por las diferencias de las características de los pacientes. Dependiendo de la región podría haber una infra solicitud para la detección del hiperparatiroidismo primario.