title: [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: Service de chirurgie pédiatrique, hôpital Nord d'Amiens, place Victor-Pauchet, 80054 Amiens cedex 1, France.
authors: P
authors: P
authors: Buisson
authors: Service de chirurgie pédiatrique, hôpital Nord d'Amiens, place Victor-Pauchet, 80054 Amiens cedex 1, France.
authors: E
authors: E
authors: Haraux
authors: Service de chirurgie pédiatrique, hôpital Nord d'Amiens, place Victor-Pauchet, 80054 Amiens cedex 1, France.
authors: M
authors: M
authors: Hamzy
authors: Service de chirurgie pédiatrique, hôpital Nord d'Amiens, place Victor-Pauchet, 80054 Amiens cedex 1, France.
authors: J
authors: J
authors: Ricard
authors: Service de chirurgie pédiatrique, hôpital Nord d'Amiens, place Victor-Pauchet, 80054 Amiens cedex 1, France; Service de pédiatrie, hôpital Nord d'Amiens, place Victor-Pauchet, 80054 Amiens cedex 1, France.
authors: J-P
authors: JP
authors: Canarelli
authors: Service de pédiatrie, hôpital Nord d'Amiens, place Victor-Pauchet, 80054 Amiens cedex 1, France.
authors: B
authors: B
authors: Boudailliez
authors: Service de pédiatrie, hôpital Nord d'Amiens, place Victor-Pauchet, 80054 Amiens cedex 1, France.
authors: K
authors: K
authors: Braun
mesh_terms: D002675:Child, Preschool; D003555:Cystinuria / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D053040:Nephrolithiasis / Q000139:chemically induced* / Q000175:diagnosis / Q000628:therapy