Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.
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伴有感音神经性耳聋的非典型 Bartter 综合征，伴有 ClC-Ka 和 ClC-Kb 氯化物通道的 β 亚基 G47R 突变，barttin。
DOI：
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发表时间：
2003
影响因子：
5.8
通讯作者：
E. Araki
中科院分区：
文献类型：
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作者：
N. Miyamura;Kazuya Matsumoto;T. Taguchi;H. Tokunaga;T. Nishikawa;K. Nishida;T. Toyonaga;M. Sakakida;E. Araki
Bartter综合征包括几种相关的肾小管疾病，包括经典Bartter、婴儿Bartter （IBS）和Gitelman综合征。在肠易激综合征患者中发现了一个新的明显的Bartter综合征伴感音神经性耳聋（BSND）组。最近，一种编码ClC氯离子通道必需β亚基的基因被称为巴丁，该基因的几个突变是BSND的原因，已被描述。我们观察了一位男性，由于轻微的临床表现，直到28岁才被诊断为Bartter综合征。患者患有先天性耳聋，这促使我们分析他的巴丁基因，并发现了先前报道的突变G47R。然而，缺乏肠易激综合征特征性症状（如羊水过多、早产或新生儿期严重缺盐）的患者的临床特征与目前文献中描述的典型BSND患者的临床特征形成鲜明对比。这可能是由于G47R突变引起的巴丁蛋白功能丧失较轻，而我们的观察似乎表明，在来源不明的先天性耳聋患者中，可能存在轻度BSND伴不同程度的巴丁蛋白功能障碍。
Bartter syndrome comprises several related renal tubular disorders including classic Bartter, infantile Bartter (IBS), and Gitelman syndrome. A new distinct group in Bartter syndrome accompanied by sensorineural deafness (BSND) has been identified among the IBS patients. Recently a gene encoding an essential beta-subunit for ClC chloride channels, named barttin, with several mutations of the gene as the cause of BSND, has been described. We have observed a male who had not been diagnosed as Bartter syndrome until 28 yr because of a mild clinical manifestation. The patient was affected with congenital deafness, which urged us to analyze his gene for barttin, and a mutation G47R, which was previously reported, has been identified. However, the clinical feature in the patient lacking the characteristic symptoms of IBS such as polyhydramnios, premature labor, or severe salt loss in neonatal period contrasts with that of the typical BSND patients described so far in the literature. This might be due to a less severe loss of function of barttin induced by G47R mutation, compared with others, and our observation seems to suggest a possibility of the prevalence of mild form BSND with various levels of barttin dysfunction among patients with congenital deafness of unknown origin.
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