A clinical case of early diagnosis of Barakat syndrome caused by a new mutation in the GATA3 gene

Barakat syndrome is a rare autosomal dominant genetic disease characterized by a triad of symptoms: hypoparathyroidism, sensorineural hearing loss and kidney dysplasia. The disease is associated with a mutation in the GATA3 gene located on the short arm of chromosome 10 (10p15), which leads to impaired embryonic development of the parathyroid glands, auditory system and kidneys. The article presents a clinical case of a patient with Barakat syndrome, in whom, in addition to the main clinical manifestations, unilateral ptosis was also detected. After birth, the boy showed signs of acute renal damage and hypocalcemia, which required intensive therapy and correction of electrolyte disorders. The uniqueness of this case lies in the presence of a previously undescribed mutation in the GATA3 gene, as well as in the diagnosis of the disease at the age of 6 months. In order to diagnose Barakat syndrome early, a multidisciplinary approach is important, and timely treatment significantly improves the condition of patients.