Clinical manifestations and genetic etiology of renal hypokalemia in 23 children
Objective To investigate the clinical manifestations and genetic characteristics of renal hypokalemia in children caused by different causes.Methods The clinical data and genetic test results of 23 children with renal hypokalemia diagnosed and treated in Children's Hospital of Shanxi from 2010 to 2023 were retrospectively analyzed.Results Among the 23 patients,15 were males and 8 were females.The clinical manifestations at initial diagnosis were developmental lag,vom-iting,diarrhea,polydipsia and polyuria,myasthenia,constipation,hypertension,twitching,dehydration and feeding difficulties in order of incidence.Laboratory tests were mainly characterized by hypokalemia,abnormal 24 h urine electrolyte results,and partly accompanied by changes in renin angiotensin aldosterone activity.Whole exome sequencing was performed on 23 chil-dren,and Sanger sequencing was performed on standard family members to verify their mutation sites.A total of 8 gene muta-tions were found,including CLCNKB,SLC12A1,SLC12A3,CFTR,CYP17A1,HSD11B2,NPHP1,ATP6V0A4 genes.Bartter syndrome type 3 caused by CLCNKB gene mutation and Gitelman syndrome caused by SLC12A3 gene mutation were more common.Conclusion The clinical manifestations of renal hypokalemia in children are lack of specificity,and the etiology is mainly genetic.Detailed laboratory examination and genetic detection can make early diagnosis and provide basis for genetic counseling.
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