远端肾小管酸中毒
肾小管酸中毒
内科学
突变
骨软化症
肾小管病变
医学
内分泌学
酸中毒
病理
生物
肾
遗传学
基因
骨质疏松症
作者
Rong Chen,Lijia Cui,Juan Du,Shujie Zhang,Yan Jiang,Mei Li,Xiaoping Xing,Ou Wang,Weibo Xia
标识
DOI:10.1210/clinem/dgae533
摘要
Hereditary distal renal tubular acidosis caused by SLC4A1 gene mutation (SLC4A1-dRTA) is a rare hereditary form of renal tubular acidosis. Rickets or osteomalacia is a common complication of SLC4A1-dRTA, and seriously affects patients' daily life. However, studies on the bone microstructure in SLC4A1-dRTA are limited.
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