GATA3

Management

The treatment of the Barakat syndrome is essentially symptomatic and depends on the clinical findings and severity of the disease. Hypocalcemia is usually the most common problem requiring treatment. Mild hypocalcemia may be treated in an outpatient setting, but patients with severe hypocalcemia resulting in seizures, tetany, laryngospasm, and rarely cardiomyopathy should be hospitalized.  Acute treatment of hypoparathyroidism consists of intravenous calcium gluconate, while chronic treatment consists of oral calcium and calcitriol. Recombinant human parathyroid hormone may be used as an adjunct to calcium and vitamin D therapy for control of hypocalcemia in patients with hypoparathyroidism.

Sensorineural deafness may be diagnosed early by routine newborn hearing screening. Hearing loss in children should be instituted as early as possible to help their speech, language, and social skills reach their full potential. Early intervention including hearing amplification and cochlear implantation should be performed to prevent any impact on language and educational development. Deafness occurring at a later age should be diagnosed and treated as early as possible.

The prognosis of patients affected with the syndrome usually depends on the severity of renal disease. Hence early and accurate diagnosis of renal disease and monitoring of the renal function are crucial in improving the prognosis of patients. Chronic kidney disease should be diagnosed as early as possible and treated promptly to prevent or delay end-stage renal disease. Renal transplantation has been performed successfully in these patients.