巴特综合征
医学
肾脏疾病
低氯血症
低钾血症
多尿
肾病科
内科学
内分泌学
糖尿病
作者
Jingqi Liu,Yudi Zhang,Xiaochuan Wu,Yongzhen Li
标识
DOI:10.3389/fped.2023.1169486
摘要
Background Bartter syndrome (BS) type III is a rare autosomal recessive genetic disease. Its clinical features are polyuria, hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninaemia. A few BS type III can be complicated with chronic kidney disease. Case presentation We report a 14-year-old boy with Bartter syndrome caused by a c.1792C > T ( p .Q598*) mutation in the CLCNKB gene. He was a no deafness and full-term baby, and he had renal dysplasia and chronic kidney disease (CKD). In addition, we summarize all cases of BS type III complicated with CKD. Conclusions We report a case of Bartter syndrome complicated by chronic kidney disease caused by a new mutation of CLCNKB. As we all know, BS type IV is usually combined with chronic kidney disease, and BS type III can also integrate with CKD. We don't find BS type III with glomerular dysplasia in the literature. So renal damage in BS type III is not only FSGS; clinicians must also be aware of glomerular dysplasia.
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