[Cystinuria in children: A report of 4 cases].

Abstract

Cystinuria is an inherited autosomal-recessive disorder of renal reabsorption of the dibasic amino acids. It is the cause of about 6% of all kidney stones observed in children. Cystine is relatively insoluble at the physiological pH of urine. Cystine stones are characteristic and frequent recurrences are observed. We report on 4 cases and describe the initial presentation (obstructive renal failure, urinary sepsis, familial screening) and the medical and surgical management. Medical management is mainly based on hyperhydration and urine alkalinization. Long-term therapy with sulfhydryl agents to prevent formation of renal stones seems to be effective but adverse side effects are frequent, requiring the withdrawal of treatment. Urological management has evolved from surgical stone removal to minimally invasive procedures (extracorporeal shock wave lithotripsy, ureteroscopy).

• Authors: P Buisson, E Haraux, M Hamzy, J Ricard, J-P Canarelli, B Boudailliez, K Braun
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 18 Issue 5 Pg. 553-7 (May 2011) ISSN: 1769-664X [Electronic] France
• Vernacular Title: Cystinurie chez l'enfant : à propos de 4 observations.
• PMID: 21458974 (Publication Type: Case Reports, English Abstract, Journal Article)
• Copyright: Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Topics

• Child, Preschool
• Cystinuria (diagnosis, etiology, therapy)
• Humans
• Infant
• Male
• Nephrolithiasis (chemically induced, diagnosis, therapy)