Barakat syndrome

Barakat syndrome is a rare genetic disease defined by three findings together: hypoparathyroidism, sensorineural deafness and renal disease, which is why it is also called HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity, and it was first described by Amin J. Barakat and colleagues in 1977. Affected people often come to attention through low calcium, tetany or convulsions without fever, while hearing loss is usually on both sides and ranges from mild to profound. Kidney problems vary widely, from nephrotic syndrome and cystic or dysplastic kidneys to chronic kidney disease. The defect in most cases maps to chromosome 10p and involves loss or mutation of the transcription factor gene GATA3. Management treats each abnormality as it appears, and prognosis depends mainly on the severity of the kidney disease.