遗传性远端肾小管酸中毒的临床特点和SLC4A1基因突变分析

发布时间：2018-05-19 21:43

本文选题：肾小管酸中毒 + 常染色体显性遗传　；参考：《中国当代儿科杂志》2017年04期

【摘要】：目的研究两个原发性远端肾小管酸中毒(d RTA)家系的临床特征和致病基因SLC4A1突变情况。方法通过家系调查、病史采集和生化指标检测,分析d RTA临床表型和遗传特点。通过直接测序法检测SLC4AI基因突变。结果两个家系共有3例患者(其中两例为母子)确诊为d RTA,均有显著的临床特征,包括身材矮小、代谢性酸中毒、碱性尿、低钾血症和肾脏钙盐沉积。SLC4A1基因分析证实3例患者均存在致病性错义突变R589H(c.1766GA)。家系1的患儿为SCL4A1的新生突变,家系2患儿的SLC4A1基因突变遗传自其母,符合常染色体显性遗传特点。结论本研究首次在国内报道遗传性d RTA家系中SLC4A1基因R589H突变。对疑似遗传性d RTA患者进行基因检测可提高早期诊治率。
[Abstract]:Objective to study the clinical characteristics and SLC4A1 mutation of two families with primary distal renal tubular acidosis. Methods the clinical phenotype and genetic characteristics of d RTA were analyzed by family investigation, history collection and biochemical index detection. The mutation of SLC4AI gene was detected by direct sequencing. Results three patients (two of whom were mothers and children) were diagnosed as d RTAs in two families. All of them had significant clinical features, including short stature, metabolic acidosis, alkaline urine, metabolic acidosis. Hypokalemia and renal calcium deposition. SLC4A1 gene analysis confirmed that all 3 patients had pathogenicity missense mutation R589Hflc. 1766GA. Pedigrees 1 was a new mutation of SCL4A1. The mutation of SLC4A1 gene in pedigrees 2 was inherited from their mothers, which was consistent with autosomal dominant inheritance. Conclusion the mutation of SLC4A1 gene R589H in hereditary d RTA families was first reported in this study. Gene detection in suspected hereditary d RTA patients can improve the rate of early diagnosis and treatment.
【作者单位】：中国医学科学院/北京协和医学院/北京协和医院内分泌科/国家卫生和计划生育委员会内分泌重点实验室;
【基金】：国家自然科学基金(81471088;81670714)
【分类号】：R726.9

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