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Barakat syndrome, also known as HDR syndrome, is a clinically heterogenous, autosomal dominant rare genetic disease, which frequency is unknown. It is primarily caused by deletion of chromosome 10p14 or mutation of GATA3 gene, located on chromosome 10. Although this syndrome is phenotypically defined by its triad of HDR: hypoparathyroidism (H), deafness (D), renal disease (R), the literature identifies cases with different components, consisting of HD, DR, HR (1). The syndrome was first described by Amin J. Barakat et al. in 1977 in siblings with hypocalcemia and proteinuria (2). So far, about 180 cases have been reported in the worldwide medical literature (3). In this report we present our own case report of patient with Barakat syndrome with hypoparathyrodism, unilateral deafness and renal impairment.
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Article Synopsis
- HDR syndrome is a rare genetic disorder characterized by hypoparathyroidism, hearing loss, and kidney abnormalities, caused by specific variants in the GATA3 gene.
- The study reviewed 28 patients and the existing literature, revealing that some conditions typically seen as rare, like genital malformations, are more common than previously thought.
- The research identified patterns in GATA3 variants and highlighted the importance of early hearing assessments and continuous monitoring of parathyroid function and urinary issues to prevent complications in affected individuals.
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