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1.
Actual. osteol ; 19(2): 160-166, sept. 2023. ilus, tab
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1525671

ABSTRACT

Introducción: describir el caso de un paciente con pancreatitis aguda secundaria a hipercalcemia por hiperparatiroidismo prImario. Esta es una causa poco frecuente de pancreatitis, asociada a morbimortalidad significativa en caso de no ser diagnosticada oportunamente Caso clínico: un hombre de 44 años, con antecedente de pancreatitis de presunto origen biliar que había requerido previamente colecistectomía, consultó por dolor abdominal y náuseas. Los estudios complementarios fueron compatibles con un nuevo episodio de pancreatitis aguda. Presentaba hipercalcemia y hormona paratiroidea (PTH) elevada, configurando hiperparatiroidismo primario. La gammagrafía informó hallazgos compatibles con adenoma paratiroideo. Se inició tratamiento con reanimación hídrica y analgesia con adecuada disminución de calcio sérico y resolución de dolor abdominal. Después de la paratiroidectomía se logró normalizar los niveles de calcio y PTH. Discusión: la pancreatitis aguda es una condición potencialmente fatal, por lo que la sospecha de causas poco frecuentes como la hipercalcemia debe tenerse en cuenta. El tratamiento de la hipercalcemia por adenoma paratiroideo se basa en reanimación hídrica adecuada y manejo quirúrgico del adenoma, con el fin de evitar recurrencia de pancreatitis y mortalidad. (AU)


Introduction: we describe the case of a patient with acute pancreatitis secondary to hypercalcemia due to primary hyperparathyroidism. This is a rare cause of pancreatitis associated with significant morbidity and mortality if not diagnosed in time. Clinical case: a 44-year-old man with a history of pancreatitis of presumed biliary origin, which had previously required cholecystectomy, consulted for abdominal pain and nausea. The laboratory findings were compatible with a new episode of acute pancreatitis. He presented hypercalcemia and an elevated parathyroid hormone (PTH), configuring primary hyperparathyroidism. Scintigraphy was performed, yielding findings compatible with parathyroid adenoma. Treatment with fluid resuscitation and analgesia was started, resulting in an adequate decrease in serum calcium and resolution of abdominal pain. After parathyroidectomy, calcium and PTH levels were normalized. Discussion: acute pancreatitis is a potentially fatal condition; therefore the suspicion of rare causes, such as hypercalcemia, should be considered. The treatment of hypercalcemia due to parathyroid adenoma is based on adequate fluid resuscitation and surgical management of the adenoma, to avoid recurrence of pancreatitis and death. (AU)


Subject(s)
Humans , Male , Adult , Pancreatitis/etiology , Parathyroid Neoplasms/diagnostic imaging , Hyperparathyroidism, Primary/diagnostic imaging , Hypercalcemia/etiology , Pancreatitis/prevention & control , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Radionuclide Imaging , Technetium Tc 99m Sestamibi , Hyperparathyroidism, Primary/complications , Hypercalcemia/blood , Hypercalcemia/therapy
2.
Actual. osteol ; 17(2): 92-103, 2021. ilus, tab
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1370258

ABSTRACT

El carcinoma paratiroideo (CP) es una neoplasia maligna con una incidencia de 0,015 cada 100.000 habitantes por año. Representa el 1% de los diagnósticos de hiperparatiroidismo primario y se manifiesta entre la 4.a y 5.a década de la vida, con una incidencia similar entre hombres y mujeres. La etiología del CP es incierta, ha sido asociada a formas esporádicas o familiares. Está caracterizado por altos niveles séricos de calcio y PTH y el desafío clínico-quirúrgico es el diagnóstico diferencial con otras entidades benignas como el adenoma o la hiperplasia de paratiroides. Aunque el diagnóstico de certeza es anatomopatológico, la sospecha clínica y el uso de métodos de baja complejidad (ecografía) con operadores avezados permite una correcta localización y abordaje pertinente del paciente para dirigir el tratamiento quirúrgico adecuado (resección en bloque) evitando persistencias y recurrencias de enfermedad. Se presenta el caso clínico de un paciente masculino que ingresa por síndrome de impregnación asociado a hipercalcemia, su abordaje diagnóstico, tratamiento y manejo interdisciplinario con discusión y revisión bibliográfica. (AU)


Parathyroid carcinoma (CP) is a malignant disease with an incidence of 0.015 per 100,000 inhabitants per year. It accounts for 1% of primary hyperparathyroidism diagnoses and occurs between the 4th and 5th decade of life, with a similar incidence between men and women. The etiology of CP is uncertain and has been associated with sporadic or family forms. CP is characterized by high serum calcium and PTH levels and the clinical-surgical challenge is the differential diagnosis with other benign entities such as parathyroid adenoma or hyperplasia. Although the diagnosis of certainty is achieved by pathological anatomy examination, the clinical suspicion and the use of low complexity methods (ultrasound) by experienced operators allows a correct localization and a patient-specific approach to direct the appropriate surgical treatment (block resection), avoiding persistence and recurrences of disease. The clinical case of a male patient admitted for severe hypercalcemia with multiple organ disfunction, the diagnostic approaches, treatment, and interdisciplinary management, together with review and discussion of the current literature are presented. (AU)


Subject(s)
Humans , Male , Middle Aged , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/etiology , Parathyroid Neoplasms/diagnostic imaging , Hyperparathyroidism, Primary/complications , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/etiology , Parathyroid Hormone/blood , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/pathology , Calcitriol/administration & dosage , Calcium Gluconate/administration & dosage , Radiography , Tomography , Calcium/administration & dosage , Ultrasonography , Diagnosis, Differential , Hypercalcemia/blood
3.
Arch. endocrinol. metab. (Online) ; 62(1): 125-128, Jan.-Feb. 2018.
Article in English | LILACS | ID: biblio-887627

ABSTRACT

SUMMARY Hypercalcemia can be hazardous during pregnancy, most cases being due to primary hyperparathyroidism. We report a case of hypercalcemia with suppressed PTH levels necessitating treatment with bisphosphonates during pregnancy. A 38-year-old woman at the 26th week gestation was admitted because of symptomatic hypercalcemia. She did not take any medication that could influence her calcium levels. Physical examination was unremarkable. Laboratory tests on admission were: calcium 12.7 mg/dL (8.5-10.5 mg/dL), phosphorus 1.8 mg/dL (2.5-4.5 mg/dL) and PTH on 3 consecutive tests 1.2, 1.3 and 1.2 pg/mL (15-65 pg/mL). Her 24h urine calcium was 900 mg, 25-OH-D 40 ng/mL (30-58 ng/mL) and 1,25-OH-D 99 pg/mL (80-146 for women in the third trimester). Abdominal ultrasound revealed multiple hypervascular liver lesions consistent with hemangiomas by MRI. Breast and neck ultrasound were normal, and chest CT revealed few non-significant 0.3-0.7 cm pulmonary nodules with no change after an interval of 3 months. She was treated with isotonic saline, loop diuretics and calcitonin. Despite this treatment, calcium levels remained high (14.1 mg/dL), and pamidronate was initiated. On 35th week gestation, she underwent a cesarean section complicated by hypocalcemia of the newborn. Eight weeks after delivery, her calcium levels are 9.4 mg/dL and PTH 18 mg/dL. According to the extensive workup and the post-partum normalization of PTH and calcium levels, we conclude that excessive secretion of placental PTHrP was the cause of hypercalcemia in this patient. No significant adverse effect of bisphosphonate on the mother or baby were seen at the short term follow up.


Subject(s)
Humans , Female , Pregnancy , Adult , Pregnancy Complications/drug therapy , Diphosphonates/therapeutic use , Bone Density Conservation Agents/therapeutic use , Hypercalcemia/drug therapy , Parathyroid Hormone/blood , Pregnancy Complications/blood , Hypercalcemia/blood
5.
Actual. osteol ; 13(3): 243-250, Sept - DIc. 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-1117571

ABSTRACT

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/blood
6.
Rev. cuba. endocrinol ; 26(2): 172-181, mayo.-ago. 2015. ilus
Article in Spanish | LILACS, CUMED | ID: lil-749602

ABSTRACT

El hiperparatiroidismo primario esporádico es una de las causas de hipercalcemia en la edad pediátrica. Constituye una entidad muy poco frecuente, más aún si es debido a hiperplasia paratiroidea. Se presenta el caso de un adolescente con historia de litiasis renal, hipercalcemia asociada a cifras elevadas de la hormona paratiroidea, e imágenes sugestivas de adenoma en paratiroide inferior izquierda por gammagrafía con sestamibi marcado con tecnecio-99m. Se realizó exéresis quirúrgica de la glándula afectada. El examen anatomo-patológico de la pieza arrojó hiperplasia paratiroidea. La presentación de este caso contribuye al reconocimiento del hiperparatiroidismo primario, entre las posibilidades diagnósticas al evaluar un paciente pediátrico con hipercalcemia(AU)


Sporadic primary hyperparathyroidism is one of the causes of hypercalcemia in pediatric ages. A very uncommon condition, it is even less frequent when caused by parathyroid hyperplasia. A presentation is provided of the case of an adolescent with a history of renal lithiasis, hypercalcemia associated to high parathyroid hormone values, and imaging suggestive of lower left parathyroid adenoma by gammagraphy with sestamibi marked with technetium-99m. Surgical exeresis of the affected gland was performed. Anatomopathological examination of the piece revealed the presence of parathyroid hyperplasia. This case presentation contributes to the recognition of primary hyperparathyroidism as one of the diagnostic possibilities when evaluating a pediatric patient with hypercalcemia(AU)


Subject(s)
Humans , Male , Adolescent , Parathyroid Glands/surgery , Hyperparathyroidism, Primary/diagnosis , Nephrolithiasis/complications , Hyperplasia/diagnosis , Hypercalcemia/blood , Case Reports
7.
Journal of Contemporary Medical Sciences. 2015; 1 (3): 27-30
in English | IMEMR | ID: emr-176284

ABSTRACT

Objective: This study focuses on the relationship between calcium ion concentration in human body and thyroid hormones with liver enzymes to determine the effect of some physiological and biochemical parameter of liver [glutamic oxaloacetic transaminase [GOT], glutamic pyruvic transaminase [GPT], Bilirubin] and thyroid stimulating hormone [TSH; T3, T4], on the levels of calcium ion in the blood


Methods: The current study included 40 patients from two different hospitals in Karbala city. This study has been investigated to find the effect of thyroid hormones [T3, T4, TSH] and liver enzymes [GOT, GPT, Bilirubin] on calcium ion concentration


Results: The results revealed there is no significant difference [P > 0.01] between calcium ion concentration and thyroid hormones [T4, T3, TSH] in each groups of different ages, respectively. Therefore, weak correlation between calcium and hormones pointed to an increase or decrease of calcium ion concentration effect by these hormones


Conclusion: There is no significant difference [P > 0.01] between liver enzymes [GOT, GPT, Bilirubin] and calcium ion concentration in each groups of different ages respectively, although weak correlation between calcium and hormones that pointed to an increase or decrease of calcium ion concentration is also affected by these enzymes


Subject(s)
Humans , Child , Adolescent , Adult , Hypercalcemia/blood , Calcium/blood , Thyroid Hormones , Liver/enzymology , Aspartate Aminotransferases , Alanine Transaminase , Bilirubin , Triiodothyronine , Thyroxine , Thyrotropin
8.
Medicina (B.Aires) ; 74(6): 457-461, dic. 2014. tab
Article in Spanish | LILACS | ID: lil-750489

ABSTRACT

Presentamos las características clínicas, bioquímicas y densitométricas de 35 pacientes con hiperparatiroidismo primario (HPP) normocalcémico, que se caracteriza por un nivel elevado de hormona paratiroidea intacta (PTHi) con el calcio sérico y iónico persistentemente normales, una vez descartadas posibles causas de hiperparatiroidismo secundario. Del total, 30 fueron mujeres (90%) y 5 varones (10%). Se seleccionó un grupo control de 55 pacientes con hiperparatiroidismo primario hipercalcémico: 51 mujeres (93%) y 4 varones (7%). El promedio de edad al diagnóstico de HPP normocalcémico fue de 61.4 ± 11.7 años y del HPP hipercalcémico de 56.4 ± 11.3 años. Además de las diferencias esperables de la calcemia, el calcio iónico, el fósforo y la calciuria de 24 horas, no encontramos cambios significativos en el resto de las variables bioquímicas. Tampoco encontramos diferencias en los valores densitométricos, la presencia de osteopenia u osteoporosis y el número de fracturas entre ambos tipos de HPP. Sí hubo una diferencia significativa en la presencia de litiasis renal entre el HPP normocalcémico (11.4%) vs el HPP clásico (49.1%), p < 0.0005, en parte vinculada a la presencia de hipercalciuria en el HPP clásico. Dos de los 35 pacientes con HPP normocalcémico evolucionaron al HPP hipercalcémico durante un seguimiento de 4 años. Nuestros resultados apoyan la hipótesis que el HPP normocalcémico podría ser una forma temprana del HPP clásico, teniendo ambos similares repercusiones clínicas a nivel renal y óseo.


This report shows our conclusions on the clinical, biochemical and densitometry characteristics of 35 normocalcemic primary hyperparathyroidism (PHPT) patients. This condition is defined by a high level of intact parathyroid hormone (iPTHI) with persistently normal serum and ionized calcium in the absence of secondary hyperparathyroidism. Our selection consisted of 30 women (90%) and 5 men (10%). The control group of 55 hypercalcemic patients with primary hyperparathyroidism included 51 women (93%) and 4 men (7%). The average age at diagnosis of normocalcemic PHPT was 61.4 ± 11.7 years and 56.4 ± 11.3 years in hypercalcemic PHPT. Besides the expected differences in serum calcium, ionized calcium, phosphorus and 24 h urinary calcium, we found no significant changes in other biochemical variables, and no differences in densitometry evaluations such as the presence of osteopenia or osteoporosis and the number of fractures in the two types of PHPT. But there was a significant difference in the presence of renal lithiasis between normocalcemic PHPT (11.4%) and clasic PHPT (49.1%) p < 0.0005, to some extent associated to the presence of hypercalciuria in classic PHPT. Two of the 35 patients with normocalcemic PHPT became classic hypercalcemic PHPT over a 4 year follow-up period. Our findings support the hypothesis that the normocalcemic PHPT could be an early stage of the classic PHPT, both having similar clinical effects to metabolic renal and bone levels.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Calcium/blood , Hypercalcemia/blood , Hyperparathyroidism/blood , Parathyroid Hormone/blood , Biomarkers/analysis , Bone Diseases, Metabolic/diagnosis , Case-Control Studies , Calcium/urine , Follow-Up Studies , Fractures, Bone/etiology , Hyperparathyroidism/complications , Osteoporosis/diagnosis , Phosphorus Metabolism Disorders/diagnosis , Retrospective Studies , Spinal Cord Injuries
9.
The Korean Journal of Internal Medicine ; : 226-230, 2014.
Article in English | WPRIM | ID: wpr-105989

ABSTRACT

BACKGROUND/AIMS: The aim of this study is to measure the difference of ionized calcium between heparinized whole blood and serum. METHODS: We recruited 107 maintenance hemodialysis (HD) patients from our hospital HD unit. The clinical and laboratory data included ionized calcium in serum and in whole blood (reference, 4.07 to 5.17 mg/dL). RESULTS: The level of ionized calcium in serum was higher than that in whole blood (p < 0.001). Bland-Altman analysis showed that difference for ionized calcium was 0.5027. For the difference, the nonstandardized beta was -0.4389 (p < 0.001) and the intercept was 2.2418 (p < 0.001). There was a significant difference in the distribution of categories of ionized calcium level between two methods (kappa, 0.279; p < 0.001). CONCLUSIONS: This study demonstrates that whole blood ionized calcium is underestimated compared with serum ionized calcium. Positive difference increases as whole blood ionized calcium decreases. Therefore, significant hypocalcemia in whole blood ionized calcium should be verified by serum ionized calcium.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Biomarkers/blood , Calcium/blood , Hypercalcemia/blood , Hypocalcemia/blood , Kidney Diseases/blood , Predictive Value of Tests , Renal Dialysis/adverse effects , Reproducibility of Results , Specimen Handling/methods
10.
Arch. latinoam. nutr ; 61(3): 247-253, sep. 2011. tab
Article in Spanish | LILACS | ID: lil-698148

ABSTRACT

En el presente trabajo se estudió el efecto de la administración subcutánea de 250, 500 y 750 μg (10.000, 20.000 y 30.000 UI, respectivamente) de vitamina D3 (calciferol)/día durante 8 días, sobre las concentraciones séricas de vitamina D3 y de 25-hidroxivitamina D3 (25-OH-D3) y sobre las concentraciones séricas y tisulares de Ca, Zn, Cu y Fe en 45 ratas macho Wistar, de 12 semanas de edad y con pesos entre 180 y 200 gramos. El grupo control estuvo integrado por 15 ratas Wistar sanas, con género, edad y peso similares a los animales tratados. La administración del calciferol a dosis altas produjo una hipervitaminosis D que se caracterizo por un aumento en el contenido sérico de la vitamina D3 y de 25-OH-D3, diversos signos clínicos (por ejemplo, anorexia, pérdida marcada de peso, diarreas sanguinolentas, conjuntivitis bilateral y muerte), hipercalcemia, hipocincemia, hipercupremia, hipoferremia y una alteración en la distribución tisular de Ca, Zn, Cu y Fe en comparación con los controles no tratados. La hipercalcemia y la inflamación son un hallazgo prominente en la hipervitaminosis D. La inflamación o la infección inducen cambios sistémicos, conocidos colectivamente como la respuesta de fase aguda. Entre las variadas alteraciones que produce esta respuesta encontramos hipoferremia, hipocincemia e hipercupremia. Es probable que estas respuestas estén mediadas, en parte, por la producción y liberación de citocinas como la interleucina 1, interferones (IFN-alfa), la interleucina 6 (Il-6) y el factor de necrosis tumoral (TNF). El desarrollo de la hipoferremia durante la inflamación requiere de hepcidina, un péptido rico en enlaces disulfuro, regulador del metabolismo del hierro, sintetizado en el hígado en respuesta a la liberación de Il-6 durante la inflamación/infección. En conclusión, nuestros resultados proporcionan evidencias que la administración de altas dosis de vitamina D, a corto plazo, determina diversos signos clínicos, produce un marcado aumento de las concentraciones séricas de la vitamina D3 y de 25-OH-D3 y una marcada alteración en las concentraciones séricas y tisulares de Ca, Zn, Cu y Fe, que dependen de las dosis inyectadas de vitamina D.


In the present work the effect of subcutaneous administration of 250, 500 and 750 ìg (10.000, 20.000 and 30.000 IU, respectively) of vitamin D3 (calciferol) daily for eight days, on serum concentrations of vitamin D3 and 25- hydroxyvitamin D3 (25-OH-D3) and on serum and tissue concentrations of Ca, Zn, Cu and Fe in 45 white male Wistar rats, aged 12 weeks and weighing 180-200 g, have been studied. The group control was integrated by 15 healthy rats with similar characteristics (strain, gender, age and weight) that treated animals. Administration of high doses of calciferol produced a hypervitaminosis D characterized by a significant (p3 and 25-OH-D3, diverse clinical signs (such as, anorexia, marked loss of body weight, bloody diarrhea, bilateral conjunctivitis, and death), hypercalcemia, hypozincaemia, hypercupremia, hypoferraemia and an alteration in the tissue distribution of Ca, Zn, Cu and Fe as compared with untreated controls. Hypercalcemia and inflammation are prominent findings in hypervitaminosis D. Inflammation or infection induce systemic changes, collectively known as the acute phase response. Among the varied alterations that together produce this response are hypoferraemia, hypozincaemia and hypercupremia. It is likely that these responses are mediated, in part, by production and release of cytokines such as interleukin 1, interferons (IFN-alpha), interleukin 6 (Il-6) and tumor necrosis factor (TNF). The development of hypoferraemia during inflammation requires hepcidin, an iron regulatory hormone, a disulfide-rich peptide, produced in the liver in response to the release of Il-6 during inflammation/ infection. In conclusion, our results provide evidence that short-term administration of high doses of vitamin D determined diverse clinical signs and produced a marked increase of serum vitamin D3 and 25-OH-D3 and a marked alteration in the serum and tissue concentrations of Ca, Zn, Cu, and Fe. These changes depend on the doses given of vitamin D.


Subject(s)
Animals , Male , Rats , Calcifediol/analogs & derivatives , Cholecalciferol/administration & dosage , Kidney/chemistry , Liver/chemistry , Vitamins/administration & dosage , Calcifediol/blood , Calcium/analysis , Cholecalciferol/adverse effects , Cholecalciferol/pharmacokinetics , Copper/analysis , Hypercalcemia/blood , Hypercalcemia/chemically induced , Injections, Subcutaneous , Iron/analysis , Rats, Wistar , Vitamins/adverse effects , Vitamins/pharmacokinetics , Zinc/analysis
11.
Arq. bras. endocrinol. metab ; 55(1): 67-71, Feb. 2011. ilus, graf, tab
Article in English | LILACS | ID: lil-580301

ABSTRACT

A loss of calcium-sensing receptor (CASR) function due to inactivating mutations can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH and courses as a life-threatening condition. The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to dehydration, apathy, lack of breast feeding and severe hypercalcemia. Molecular analysis was performed on genomic DNA of the index case and her parents. A novel homozygous mutation (p.E519X) in CASR was identified in the proband; both mother and father had the same mutation in heterozygous state, confirming their FHH condition. The mutation results in a truncated and inactive protein due to the lack of transmembrane and intracellular domains. The identification of this novel CASR gene mutation established the basis of hypercalcemia in this family and allowed a genetic counseling.


Mutações inativadoras no gene do sensor do cálcio (CASR) podem causar hipercalcemia hipocalciúrica familiar (HHF) ou hiperparatireoidismo neonatal grave (HPTNSG). A HPTNS representa a forma mais grave da HHF cursando com risco de vida. O objetivo deste estudo foi identificar e caracterizar uma mutação no gene CASR de uma criança do sexo feminino levada ao hospital em decorrência de desidratação, apatia, dificuldade para mamar e hipercalcemia grave. A análise molecular foi realizada a partir do DNA genômico do caso índice e de seus pais. Uma nova mutação em homozigose (p.E519X) foi identificada no caso índice; ambos, mãe e pai, apresentaram a mesma mutação em heterozigose, o que os caracteriza como portadores de HHF. Essa alteração resulta em uma proteína truncada e inativa devido à falta dos domínios transmembrana e intracelular. A identificação dessa nova mutação estabeleceu a causa da hipercalcemia na família e permitiu o aconselhamento genético.


Subject(s)
Female , Humans , Infant , Infant, Newborn , Hypercalcemia/congenital , Hyperparathyroidism/genetics , Mutation/genetics , Receptors, Calcium-Sensing/genetics , Hypercalcemia/blood , Hypercalcemia/genetics , Hyperparathyroidism/surgery , Pedigree , Recurrence
12.
Medical Journal of Cairo University [The]. 2007; 75 (4 [Supp.II]): 293-298
in English | IMEMR | ID: emr-126252

ABSTRACT

Oral cavity squamous cell carcinoma [OCSCC] treatment failure may be locoregional or distant. Unlike locoregional, distant recurrence can not be managed with salvage treatment and signifies a poor prognosis. Paraneoplastic hypercalcemia may result from the production of parathyroid hormone-related protein [PTHrP] by OCSCC. The aim of the study is to assess OCSCC distant treatment failure pattern and to investigate the prognostic role of hypercalcemia. A retrospective review of the medical records of OCSCC patients who completed treatment with curative intent then developed recurrent disease treatment with curative intent then developed recurrent disease was done. From 51 patients, 19 [37%] were eligible for analysis. The main pattern of treatment failure was locoregional. Distant failure occurred in 32% of patients. Hypercalcemia occurred in 53% of patients and was the only variable that correlated significantly with distant failure [p=0.016] by multivariate analysis. The median overall survival of hypercalcemic patients was shorter than normocalcemic patients [16 and 24 months, respectively; p=0.032]. In multivariate analysis, only lymph nodes' involvement was associated with significantly shorter survival [p=0.01]. The median survival from diagnosis of hypercalcemia was only 43 days [95% CI: 28-58]. In conclusion, distant failure occurs in about 1/3 of OCSCC treatment failures. Further research is warranted to identify this group of patients at earlier stages and to find an effective treatment. Hypercalcemia is likely to be a terminal event in OCSCC and carries a dismal prognosis. Its diagnosis and management may have a role in end of life care but not in the curative setting. The prognostic significance of PTHrp identification on OCSCC tissue needs further evaluation


Subject(s)
Humans , Male , Female , Mouth , Treatment Failure , Hypercalcemia/blood , Prognosis , Neoplasm Metastasis , Carcinoma, Squamous Cell/radiotherapy
13.
Indian Pediatr ; 2006 Apr; 43(4): 360-3
Article in English | IMSEAR | ID: sea-8362

ABSTRACT

Subcutaneous fat necrosis of the newborn (SCFN) is an uncommon condition and may be complicated by hypercalcemia. A 28-day-old neonate, presenting with SCFN, hypercalcemia and nephrocalcinosis was managed with intravenous saline followed by furosemide, oral prednisolone, potassium citrate and etidronate.


Subject(s)
Administration, Oral , Bone Density Conservation Agents/therapeutic use , Calcium/blood , Diuretics/therapeutic use , Etidronic Acid/therapeutic use , Fat Necrosis/blood , Furosemide/therapeutic use , Glucocorticoids/therapeutic use , Humans , Hypercalcemia/blood , Infant, Newborn , Infusions, Intravenous , Nephrocalcinosis/complications , Potassium Citrate/therapeutic use , Prednisolone/therapeutic use , Sodium Chloride/therapeutic use
14.
JPMA-Journal of Pakistan Medical Association. 2006; 56 (1): 40-41
in English | IMEMR | ID: emr-78500

ABSTRACT

The case of a 38 years old man with generalized pains fatigue, anorexia, constipation, polyuria serum calcium level of 20.6mg/dl in paired renal function parathyroid hormone is presented. Sestamibi scan showed a functioning left inferior parathyroid tumor, which was successfully removed. Before surgery he was managed with rehydration, diuretics and pamidronate infusion. Five months post surgery the serum calcium levels are normal and renal function has improved


Subject(s)
Humans , Male , Parathyroid Neoplasms/pathology , Carcinoma/complications , Carcinoma/pathology , Hypercalcemia/etiology , Hypercalcemia/blood , Follow-Up Studies
15.
Article in English | IMSEAR | ID: sea-41546

ABSTRACT

OBJECTIVE: To study the mechanism(s) of acute hypercalcemia-induced hypertension in dogs. MATERIAL AND METHOD: Adult male mongrel dogs were intravenously infused with: 1) normal saline solution, 2) CaCl2 solution, 3) CaCl2 + calcium channel blocker (verapamil), 4) CaCl2 + selective alpha-1 adrenergic receptor blocker (prazosin), or 5) CaCl2 + verapamil + prazosin. Either verapamil or prazosin treatment was started at forty minutes before CaCl2 infusion and then was co-administered throughout the three-hour experimental period. Systemic and renal hemodynamics parameters were determined. RESULTS: Infusion of CaCl2 caused increases in mean arterial blood pressure (p < 0.01), total peripheral resistance (p < 0.001), and renal vascular resistance (p < 0.001). Prior treatment with either verapamil or prazosin lowered baseline blood pressure (p < 0.01) and could prevent hypercalcemia-induced hypertension. This occurred accompanying regaining to near normal values of abnormal systemic hemodynamics parameters. Combination of both drugs showed more profound effects, particularly on lowering renal vascular resistance. CONCLUSION: Acute hypercalemic hypertension is caused by an increase in vascular resistance mediated via the direct effect of calcium on vascular smooth muscle as well as the indirect effect of calcium induced hypercatecholaminemia. The stimulatory effect of hypercalcemia on renal vascular resistance is more prominent than that on peripheral vascular resistance.


Subject(s)
Acute Disease , Adrenergic alpha-Antagonists/pharmacology , Animals , Calcium Channel Blockers/pharmacology , Calcium Channels/physiology , Catecholamines/blood , Dogs , Hypercalcemia/blood , Hypertension/etiology , Male , Renal Circulation/drug effects , Vascular Resistance/drug effects
16.
Rev. Assoc. Med. Bras. (1992) ; 43(2): 105-8, abr.-jun. 1997. tab, graf
Article in Portuguese | LILACS | ID: lil-197141

ABSTRACT

A calcitonina (CT) é um hormonio peptídico relacionado ao metabolismo de calcio produzido pelas células C da tiróide. Encontra-se com níveis plasmaticos bastante elevados no carcinoma medular de tiróide e mostra-se como excelente marcador dessa doença. No entanto, existem relatos na literatura que demonstraram níveis elevados deste peptídio em pacientes portadores de outras neoplasias, principalmente no carcinoma de pulmao. Objetivo. Avaliar a validade da dosagem da CT sérica como possível marcador tumoral em pacientes portadores de tumor de pulmao de diferentes tipos histológicos. Métodos. Foram dosados CT plasmatica e calcio ionizado sanguíneo em 56 pacientes portadores de tumores malignos de pulmao. Para as dosagens de CT os autores utilizaram um método de radioimunoensaio específico, realizado após extraçao prévia do soro em coluna de sílica. Resultados. Observou-se prevalência de hipercalcemia de 21,4 por cento; apenas três (5,4 por cento) dos 56 pacientes investigados apresentaram níveis pouco elevados de calcitonina, e o restante manteve níveis normais ou identectaveis do peptídio. Conclusao. Os resultados demonstram que, com a utilizaçao de um método bastante específico para dosagem da calcitonina em sua forma monomérica, nao se encontram níveis elevados deste hormonio em pacientes portadores de neoplasia pulmonar, desestimulando sua utilizaçao como marcador tumoral nesta patologia.


Subject(s)
Adult , Middle Aged , Humans , Female , Adenocarcinoma/blood , Biomarkers/blood , Calcitonin/blood , Carcinoma, Small Cell/blood , Lung Neoplasms/blood , Aged, 80 and over , Hypercalcemia/blood , Radioimmunoassay/methods
17.
LMJ-Lebanese Medical Journal. 1997; 45 (2): 107-111
in English | IMEMR | ID: emr-122144

ABSTRACT

The routine use of automated techniques to measure serum calcium levels have made disease states of the parathyroid gland a common endocrinologic problem. Because of the low sensitivity and specificity of early radiologic techniques to identify enlarged parathyroid glands, and because skilled endocrine surgeons report success rates of > 95% in identifying abnormal parathyroid glands, historically most parathyroid glands surgery consisted in a large cervicotomy under general anesthesia without preoperative localization. However, the development of sophisticated imaging has now made it possible to identify the abnormal gland in a significant number of patients, leading some surgeons to choose unilateral neck explorations under local anesthesia for primary hyperparathyroidism. The success of the procedure is ascertained by measuring PTH preoperatively. We report the first two Lebanese patients, presenting with a solitary parathyroid adenoma, who underwent this easy safe and cost-effective surgical technique


Subject(s)
Humans , Female , Parathyroid Glands/surgery , Anesthesia, Local/methods , Hyperparathyroidism/diagnostic imaging , Parathyroid Diseases , Hypercalcemia/blood
18.
Southeast Asian J Trop Med Public Health ; 1996 Mar; 27(1): 204-5
Article in English | IMSEAR | ID: sea-35876
19.
Southeast Asian J Trop Med Public Health ; 1992 Dec; 23(4): 702-4
Article in English | IMSEAR | ID: sea-32132

ABSTRACT

The prevalence of hypercalcemia in tuberculosis in Hong Kong and its occurrence in relation to the radiographic extent of disease were studied in 57 patients with sputum smear (n = 44) and/or culture positive (n = 13) pulmonary tuberculosis and in five patients with military tuberculosis prior to treatment. Only one (1.6%) patient had a corrected plasma calcium level above the reference range for our laboratory. There was a positive relationship between the corrected plasma calcium levels and the radiographic extent of disease (r = 0.37), p < 0.01). As the occurrence of hypercalcemia in tuberculosis is known to be influenced by the calcium intake, our finding of a low prevalence of "absolute" hypercalcemia in Hong Kong could be related to the low dietary calcium intake in these subjects.


Subject(s)
Adult , Aged , Aged, 80 and over , Calcium/blood , Female , Humans , Hypercalcemia/blood , Lung/diagnostic imaging , Male , Middle Aged , Serum Albumin/analysis , Tuberculosis, Pulmonary/blood
20.
JMS-Journal of Medical Sciences. 1992; 2 (2): 23-26
in English | IMEMR | ID: emr-24132
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