Case Reports
doi: 10.3760/cma.j.issn.0578-1310.2020.03.018.
[Severe proximal renal tubular acidosis with ocular abnormalities caused by SLC4A4 gene variation: a case report]
[Article in
Chinese]
Affiliations
- PMID: 32135600
- DOI: 10.3760/cma.j.issn.0578-1310.2020.03.018
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Case Reports
[Severe proximal renal tubular acidosis with ocular abnormalities caused by SLC4A4 gene variation: a case report]
[Article in
Chinese]
Zhonghua Er Ke Za Zhi.
.
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.145C>T杂合变异，与其父检测结果一致；内含子区域存在一个c.1499+1G>A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。.
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