[Severe proximal renal tubular acidosis with ocular abnormalities caused by SLC4A4 gene variation: a case report]

Authors :: Y, Liu
W W, Wang
M F, Lei
W Y, Chen
Source :: Zhonghua er ke za zhi = Chinese journal of pediatrics. 58(3)
Publication Year :: 2020
Abstract: 患儿女，5岁3月龄，因肢体无力3个月余入院，生长发育落后于同龄儿、严重酸中毒，低钾血症；双眼玻璃体混浊，角膜基质灰白混浊；头颅磁共振成像示双侧基底节区可见对称性斑片状致密影。基因检测发现患儿SLC4A4基因外显子区域存在1个c.145CT杂合变异，与其父检测结果一致；内含子区域存在一个c.1499+1GA杂合变异，与其母检测结果一致。患儿以严重的代谢性酸中毒为特点，且伴有多系统病变，应注意先天遗传代谢性疾病，尽早行基因检测。.

Subjects :: Sodium-Bicarbonate Symporters
Mutation, Missense
Humans
Acidosis, Renal Tubular

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