Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 55-57 |
| Number of pages | 3 |
| Journal | European Neurology |
| Volume | 35 |
| Issue number | 1 |
| DOIs | |
| State | Published - 1995 |
| Externally published | Yes |
Keywords
- Cerebrotendinous xanthomatosis
- Nephrocalcinosis
- Nephrolithiasis
- Renal tubular acidosis