Yuan Jinna, Huang Ke, Wu Wei, Zhang Li, Dong Guanping
Endocrinology Department, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Medicine (Baltimore). 2019 Jul;98(30):e16504. doi: 10.1097/MD.0000000000016504.
Autosomal recessive distal renal tubular acidosis (dRTA) is a rare condition, most cases of which are caused by genetic mutations. Several loss-of-function mutations in the ATP6V0A4 gene have been recently reported.
A 2-month, 24-day-old Chinese girl presenting with vomiting and diarrhea.
dRTA was established by metabolic acidosis and hypokalemia. Mutational analysis of the ATP6V0A4 gene revealed a homozygous deletion of exons 13 and 14. The father was found to have a heterozygous loss of both exons, whereas the mother was normal.
Patient was treated with potassium citrate.
The patient has shown normal pH and potassium levels.
This is the first case of a homozygous deletion in ATP6V0A4 reported in the literature. Although the initial auditory screening was normal in this case, this patient will nevertheless undergo long-term auditory testing.
常染色体隐性遗传性远端肾小管酸中毒（dRTA）是一种罕见病症，多数病例由基因突变引起。近期报道了ATP6V0A4基因的几种功能丧失性突变。
一名2个月24天大的中国女童，出现呕吐和腹泻症状。
通过代谢性酸中毒和低钾血症确诊为dRTA。对ATP6V0A4基因进行突变分析，发现外显子13和14纯合缺失。父亲被发现这两个外显子杂合缺失，而母亲正常。
患者接受柠檬酸钾治疗。
患者的pH值和钾水平已恢复正常。
这是文献中报道的首例ATP6V0A4基因纯合缺失病例。尽管该病例最初的听力筛查正常，但仍需对患者进行长期听力测试。
