目的 分析新生儿远端肾小管酸中毒（DRTA）的基因型、临床特点及远期发育情况。方法 回顾分析1例 DRTA患儿的临床资料。结果 足月顺产女婴，生后体质量不增、睡眠差、哭闹、轻度脱水等。多次血气分析提示严重的高 氯性酸中毒、低钾血症，碱性尿液，肾脏钙质沉着。高通量基因测序显示患儿ATP 6 V 0 A 4基因有复合杂合变异，分别是来 自父亲的C.2351dupT移码变异（编码区第 2351号插入胸腺嘧啶，导致氨基酸改变 p.F785Ifs*28）和来自母亲的C.1504dupT 移码变异（编码区第 1504号插入胸腺嘧啶，导致氨基酸改变 p.Y 502 Lfs* 22），此变异为致病性变异，符合常染色体隐性 DRTA诊断。患儿经枸橼酸合剂治疗5年，生长发育追赶至正常，无明显并发症。结论 新生儿期DRTA，要高度警惕遗传 性致病因素，必要时行基因测序以明确诊断，尽早干预。

Objective? To explore the genotype, clinical characteristics and long-term development of neonatal distal renal tubular acidosis (DRTA). Methods? The clinical data of a DRTA child were retrospectively analyzed. Results A girl, born at full term by vaginal delivery, suffered from no weight gain, poor sleep, crying and mild dehydration after birth. Repeated blood gas tests suggested severe hyperchloric acidosis, hypokalemia, alkaline urine and renal calcium deposition. Renal ultrasonography showed nephrocalcinosis. High-throughput gene sequencing revealed compound heterozygous variants in ATP 6 V 0 A 4 gene including a frameshift variant of c. 2351 dupT from the father (the coding region No. 2351 was inserted into thymine, which resulted in amino acid changes of p.F 785 Ifs* 28 ) and a frameshift variant of c. 1504 dupT from the mother (the coding region No. 1504 was inserted into thymine, which resulted in amino acid changes of p.Y 502 Lfs* 22 ). This variant was a pathogenic variant and lead to the diagnosis of autosomal recessive DRTA. After 5 years of treatment with citrate mixture, the children's growth and development caught up to normal, and with no obvious complications. Conclusion? For neonatal DRTA, genetic risk factors should be alerted and gene sequencing should be carried out to make a definite diagnosis when necessary. Intervention should be given as early as possible.