Cho Yoon Hi, Gitelman Stephen, Rosenthal Stephen, Ambler Geoffrey
Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Int J Pediatr Endocrinol. 2009;2009:431527. doi: 10.1155/2009/431527. Epub 2010 Jan 28.
We report a familial case of the nephrogenic syndrome of inappropriate antidiuresis (NSIAD), including 30-year followup data on two patients. The proband and one maternal uncle presented in their infancy with severe recurrent hyponatremia, and clinical pictures consistent with the syndrome of inappropriate antidiuretic hormone (SIADH) in the absence of an elevated ADH level. They were both confirmed to be hemizygous for the R137C mutation on the V2R gene (AVPR2), the same locus of the gain of function mutation demonstrated in the original reports of this condition. The proband's mother was identified as an asymptomatic carrier of this X-linked condition. Our case describes a favourable long-term outcome for NSIAD, in particular, successful treatment with oral urea during the infancy period, and with self-regulated precautions on fluid intake into adult life.
我们报告了一例家族性抗利尿激素分泌失调综合征（NSIAD）病例，包括两名患者30年的随访数据。先证者和一位舅舅在婴儿期出现严重复发性低钠血症，临床表现与抗利尿激素分泌失调综合征（SIADH）一致，但抗利尿激素（ADH）水平未升高。他们均被证实V2R基因（AVPR2）上存在R137C突变的半合子，这与该疾病最初报告中所证实的功能获得性突变位点相同。先证者的母亲被确定为这种X连锁疾病的无症状携带者。我们的病例描述了NSIAD良好的长期预后，特别是在婴儿期口服尿素治疗成功，成年后通过自我调节液体摄入量进行预防。
