关键词: 　远端肾小管酸中毒； ATP 6 V 0 A 4基因； 生长发育

Abstract: 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.

Key words: tubular acidosis;? ATP 6 V 0 A 4 gene;? growth and development