Hypoparathyroidism, sensorineural deafness, and renal disease

Key words Disease name and synonyms Definition/diagnostic criteria Epidemiology Clinical description Etiology Diagnostic methods Differential diagnosis Genetic counseling Antenatal diagnosis Management including treatment Prognosis Unresolved questions References Abstract The syndrome of Hypoparathyroidism, sensorineural deafness and renal disease (HDR syndrome) is an inherited condition. Patients may present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease manifestations include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring. Mutations in the GATA3 gene, mapped to chromosome 10p (gene map locus 10p15, 10p15.1-p14), have been identified in several families with HDR syndrome. The mode of inheritance is believed to be autosomal dominant. The prevalence is unknown, but the disease is considered to be very rare. Management consists of treating the clinical abnormalities at the time of presentation. Key words Renal disease – deafness – hypocalcemia – hypoparathyroidism-Barakat syndrome-HDR syndrome-GATA3 gene.