title: Nephrolithiasis and nephrocalcinosis in cerebrotendinous xanthomatosis: report of three siblings.
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.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
authors.forename: W N
authors.initials: WN
authors.lastname: Chang
authors.forename: Y F
authors.initials: YF
authors.lastname: Cheng
mesh_terms: D000136:Acid-Base Equilibrium / Q000502:physiology; D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003404:Creatinine / Q000097:blood; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007669:Kidney Calculi / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D007677:Kidney Function Tests; D007684:Kidney Tubules / Q000503:physiopathology; D008297:Male; D009397:Nephrocalcinosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009460:Neurologic Examination; D013250:Steroid Hydroxylases / Q000172:deficiency; D015223:Wolman Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: D003404:Creatinine; D013250:Steroid Hydroxylases