Berkešová Beáta Arciniegas, Borbély Zoltán
Vnitr Lek. 2023 Summer;69(E-3):16-19. doi: 10.36290/vnl.2023.036.
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.
巴拉卡特综合征,也称为HDR综合征,是一种临床异质性的常染色体显性罕见遗传病,其发病率未知。它主要由10号染色体p14缺失或位于10号染色体上的GATA3基因突变引起。尽管该综合征在表型上由其HDR三联征定义:甲状旁腺功能减退(H)、耳聋(D)、肾脏疾病(R),但文献中也发现了具有不同组成部分的病例,包括HD、DR、HR(1)。该综合征于1977年由阿明·J·巴拉卡特等人首次在患有低钙血症和蛋白尿的兄弟姐妹中描述(2)。迄今为止,全球医学文献中已报道了约180例病例(3)。在本报告中,我们展示了我们自己关于一名患有巴拉卡特综合征、甲状旁腺功能减退、单侧耳聋和肾功能损害患者的病例报告。