Vnitr Lek 2023, 69(3):E16-E19 | DOI: 10.36290/vnl.2023.036

Barakat syndrome

Beáta Arciniegas Berkešová^{1, 2}, Zoltán Borbély^{2, 3}

¹ Endokrinologická ambulancia Kliniky vnútorného lekárstva II, FNsP Nové Zámky

² Klinika vnútorného lekárstva II, FNsP Nové Zámky

³ Nefrologická ambulancia Kliniky vnútorného lekárstva II, FNsP Nové Zámky

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.

Keywords: Barakat syndrome, deafness, GATA3, HDR syndrome, hypocalcemia, hypoparathyroidism, chromosome 10p, renal disease.

Accepted: April 27, 2023; Published: May 16, 2023  Show citation