de Pablos Augusto Luque, García-Nieto Victor, López-Menchero Jesús C, Ramos-Trujillo Elena, González-Acosta Hilaria, Claverie-Martín Félix
Clin Nephrol. 2014 May;81(5):363-8. doi: 10.5414/CN107687.
Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and sensorineural deafness. This autosomal recessive disease is caused by mutations in the gene encoding barttin, BSND, an essential subunit of the ClC-K chloride channels expressed in renal and inner ear epithelia. Patients differ in the severity of renal symptoms, which appears to depend on the modification of channel function by the mutant barttin. To date, only a few BSND mutations have been reported, most of which are missense or nonsense mutations. In this study, we report the identification of the first insertion mutation, p.W102Vfs*7, in the BSND gene of a newborn girl with acute clinical symptoms including early-onset chronic renal failure. The results support previous data indicating that mutations that are predicted to abolish barttin expression are associated with a severe phenotype and early onset renal failure.
巴特综合征IV型是巴特综合征的一种罕见亚型，可导致严重的肾盐消耗和感音神经性耳聋。这种常染色体隐性疾病是由编码barttin的基因（BSND）发生突变引起的，barttin是在肾脏和内耳上皮中表达的ClC-K氯通道的一个必需亚基。患者的肾脏症状严重程度各不相同，这似乎取决于突变型barttin对通道功能的改变。迄今为止，仅报道了少数BSND突变，其中大多数是错义或无义突变。在本研究中，我们报告了在一名患有包括早发性慢性肾衰竭在内的急性临床症状的新生女婴的BSND基因中鉴定出首个插入突变p.W102Vfs*7。这些结果支持了先前的数据，表明预计会消除barttin表达的突变与严重表型和早发性肾衰竭相关。
