Döneray Hakan, Usui Takeshi, Kaya Avni, Dönmez Ayşe Sena
Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey Phone: +90 535 944 43 07 E-mail:
J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):140-3. doi: 10.4274/jcrpe.1874.
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.
甲状旁腺功能减退、耳聋和肾发育异常（HDR）综合征是一种常染色体显性遗传病，其特征为甲状旁腺功能减退、感音神经性耳聋和肾发育异常。我们在此报告首例患有HDR综合征的土耳其患者，该患者存在p.R367X突变。本报告表明，p.R367X并非远东人群特有的突变，同时还表明，对于甲状旁腺功能减退的婴儿，应仔细检查其泌尿系统表现，因为与p.R367X突变相关的临床症状可能具有不同的发病年龄。
