Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome
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DOI：
10.1086/301872
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发表时间：
1998-06-01
影响因子：
9.8
通讯作者：
Antignac, C
中科院分区：
文献类型：
--
作者：
Vargas-Poussou, R;Feldmann, D;Antignac, C
出生后巴特综合征是一种遗传性肾小管疾病，与低钾性碱中毒有关。这种疾病通常表现为在子宫内开始的危及生命的状况，伴有明显的胎儿多尿，导致羊水过多和早产。该变异的另一个特征是显著的高钙尿症，其继发性后果是肾钙沉着症和骨质减少症的发展。我们分析了13个家族的15个先证，并对NKCC2基因的编码序列和外显子-内含子边界进行了SSCP分析；我们报告了产前Bartter综合征患者的14个新突变，以及鉴定了人类NKCC2的三种异构体，这些异构体是由选择性剪接产生的。
Aratenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia, We have analyzed 15 probands belonging to 13 families and leave performed SSCP analysis of the coding sequence and the exon-intron boundaries of the NKCC2 gene; and we report 14 novel mutations in patients with antenatal Bartter syndrome, as well as the identification of three isoforms of human NKCC2 that arise from alternative splicing.