Deletion of exons 2–4 in the BSND gene causes severe antenatal Bartter syndrome
Deletion of exons 2–4 in the BSND gene causes severe antenatal Bartter syndrome
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BSND 基因中的外显子 2-4 缺失会导致严重的产前 Bartter 综合征
DOI：
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发表时间：
2009
期刊：
影响因子：
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通讯作者：
N. Jeck
中科院分区：
文献类型：
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作者：
Z. Bircan;Filiz Harputluoglu;N. Jeck
BSND基因突变通常会导致严重的产前巴特综合征和感音神经性聋(SND)。据报道，慢性肾功能衰竭和一过性高钙尿是这种综合征的有争议的症状。所有报告的12个BSND突变都会导致SND，而只有两个突变会导致正常的肾小球滤过率(GFR)，另外两个突变会导致高钙尿。我们在这里报告的病例，患者表现出严重的临床症状和BSND基因外显子2-4的缺失，以前从未报道过。肾小球滤过率降低、高钙尿症以及处理液体和电解质需求的困难是这位患者受到关注的原因。
BSND gene mutations usually cause severe forms of antenatal Bartter syndrome and sensorineural deafness (SND). Chronic renal failure and transient hypercalciuria are reported as controversial symptoms of this syndrome. All twelve reported BSND mutations cause SND, whereas only two of the mutations give rise to normal glomerular filtration rate (GFR) and two other mutations cause hypercalciuria. The case we report here, where the patient presented with severe clinical symptoms and deletion on exons 2–4 of the BSND gene, has not been reported previously. Decreased GFR, along with hypercalciuria and difficulties in managing fluid and electrolyte requirements, are the reasons why this patient was brought to attention.
婴儿 Bartter 综合征与感音神经性耳聋与 1p 染色体的联系。
影响因子：
9.8
作者：
Brennan,TM;Landau,D;Shalev,H;Lamb,F;Schutte,BC;Walder,RY;Mark,AL;Carmi,R;Sheffield,VC
通讯作者：
Sheffield,VC