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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

GARFIAS VON F, CAROLINA; VILLANUEVA T, SOLEDAD  y  UGARTE P, FRANCISCA. Primary hyperparathyroidism: clinical case and literature review. Rev. chil. pediatr. [online]. 2011, vol.82, n.4, pp.336-343. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062011000400008.

Hypercalcemia is infrequent in pediatrics, causes include mutations of calcium sensing receptor (CaSRs), PT adenoma or hyperplasia, D or A hypervitaminosis, inborn errors of metabolism, parenteral nutrition, and others. Objective: To report a case of severe hypercalcemia in a adolescent due to primary hyperparathyroidism. Case: Fourteen years old adolescent girl with 2 weeks of weight loss, polyuria, malaise and emotional lability. Laboratory reveals hypercalcemia (16.6 mg/dl), hypophosphemia (2.2 mg/dl) and elevated PTH (450 pg/ml). Management of severe hypercalcemia at ICU was done. PT Scintigraphy study reveals increased uptake in the lower pole of right thyroid lobe. Right inferior parathyroidectomy was performed and biopsy revealed right lower parathyroid hyperplasia. Discusion: Primary hyperparathyroidism (HPT) is an uncommon condition in children. The main causes are parathyroid adenomas or hyperplasia, frequently one or two PT glands involved. HPT must be suspected in symptomatic hypercalcemia, nephrourinary symptoms in scholars and adolescents (polyuria and nephrolithiasis) and in newborn with pathologic fractures and costal rosary. The pathogenesis includes mutations in CaSRs, cyclin D1/PRAD 1 and MEN 1 genes.

Palabras clave : Hypercalcemia; hyperparathyroidism; primary hyperparathyroidism; calcium sensing receptor (CaSRs); child.

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