伴有肾小管酸中毒和内分泌异常的HDR综合征（甲状旁腺功能减退、感音神经性耳聋和肾脏疾病）
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities.
作者信息
Taslipinar Abdullah, Kebapcilar Levent, Kutlu Mustafa, Sahin Mustafa, Aydogdu Aydogan, Uckaya Gokhan, Azal Omer, Bolu Erol, Ibrahim Aydin Halil
机构信息
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty, Ankara, Turkey.
出版信息
Intern Med. 2008;47(11):1003-7. doi: 10.2169/internalmedicine.47.0917. Epub 2008 Jun 2.
Type 1 (distal) and type 2 (proximal) renal tubular acidosis (RTA) are uncommon disorders, particularly in adults. HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Here, we describe a 19-year-old man with HDR syndrome accompanied by renal tubular acidosis and endocrinopathic changes.
1型（远端）和2型（近端）肾小管酸中毒（RTA）是罕见疾病，尤其在成人中。HDR综合征（甲状旁腺功能减退、感音神经性耳聋和肾脏疾病）是一种常染色体显性疾病，由甲状旁腺功能减退、肾发育异常和听力丧失三联征定义。在此，我们描述一名19岁男性，患有伴有肾小管酸中毒和内分泌病变的HDR综合征。
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