The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

J Assoc Physicians India. 2015 Jun;63(6):73-5

Authors: Meena RL, Maloo SK, Samar N, Ruhela A, Saini S

Abstract
The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing loss is usually bilateral, range from mild to profound impairment. Renal disease includes dysplasia, hypoplasia or aplasia.

PMID: 26710407 [PubMed - in process]

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