Benign familial hypocalciuric hypercalcemia.

[familial hypocalciuric hypercalcemia]

To review the pathophysiology , clinical features , diagnosis , and management options for benign familial hypocalciuric hypercalcemia .We present a systematic summary of benign familial hypocalciuric hypercalcemia after review of the current available literature .Benign familial hypocalciuric hypercalcemia is an autosomal dominant condition characterized by lifelong hypercalcemia , relative hypocalciuria , and inappropriately elevated parathyroid hormone . It is caused by a loss -of-function mutation in the calcium-sensing receptor gene (CASR ). Benign familial hypocalciuric hypercalcemia is important clinically because it can be difficult to distinguish from primary hyperparathyroidism . It is a benign condition , and affected patients should be advised against parathyroidectomy . The incidence of complications associated with primary hyperparathyroidism , like osteopenia and nephrolithiasis , is not increased in persons with benign familial hypocalciuric hypercalcemia , and the rates are similar to those in the general population . Rarely , a severe form of this disease , namely neonatal severe primary hyperparathyroidism is seen in infants with homozygous CASR mutations .B enign familial hypocalciuric hypercalcemia is a small but important cause of hypercalcemia , especially in the younger population . Hypercalcemia persists after subtotal parathyroidectomy . It is important to diagnose this condition , not only in the index case but also in family members , because these patients should be advised against surgical intervention .

Diseases
Validation

Diseases presenting "loss-of-function mutation in the calcium-sensing receptor gene" symptom

familial hypocalciuric hypercalcemia

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