Chang W N, Cheng Y F
Department of Neurology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
Eur Neurol. 1995;35(1):55-7. doi: 10.1159/000117091.
We report the existence of nephrocalcinosis (NC) and/or nephrolithiasis (NL) in three siblings with cerebrotendinous xanthomatosis (CTX). Incomplete renal tubular acidosis (RTA) type 1 is also found in these three siblings after the evaluation of renal acidification function. Although the association of RTA with NC and/or NL is well known, they are rarely reported in CTX patients.
我们报告了3例患有脑腱性黄瘤病（CTX）的兄弟姐妹存在肾钙质沉着症（NC）和/或肾结石（NL）。在对这3例兄弟姐妹的肾脏酸化功能进行评估后，还发现他们患有不完全性1型肾小管性酸中毒（RTA）。虽然RTA与NC和/或NL的关联已广为人知，但在CTX患者中却鲜有报道。
