Cystinuria : Cause of Recurrent Renal Stones in a 4-
Year-Old Girl
KANCHANA TANGNARARATCHAKIT, M.D.*, WATCHARIN ARIYAPRAKAI, M.D.**,
WIWAT TAPANEYA-OLARN, M.D.*, VORASUK SHOTELERSUK, M.D.***,
THANO M PETCHTHONG, B.Sc. ****
Affiliation : *Nephrology Unit, Department of Pediatrics,
**Urology Unit, Department of Surgery, Faculty of Medicine, Ramathiboi Hospital, Mahidol University, Bangkok
10400,
*** Section on Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkom
University, Bangkok 10330,
**** Research Center, Faculty of Medicine, Ramathiboi Hospital, Mahidol University, Bangkok 10400, Thailand.
AbstractThis paper presents the case report of a 4-year and 6-month old girl with cystinuria. She
clinically presented with recurrent radiopaque renal stones since the age of 3 years. She received 2
subsequent operations of pyelolithotomy combined with ureterolithotomy at the age of 3 years 6
months, and pyelolithotomy alone at the age of 5 years. She was initially diagnosed as having cysti
nuria by the presence of hexagonal plate crystals in her acidified urine and positive for the urinary
cyanide-nitroprusside test. The diagnosis was confirmed by urinary amino acid analysis using quan
titative ion-exchange chromatography which revealed increased amounts of cystine and dibasic
amino acids of lysine and ornithine. In spite of maintaining a high fluid intake and alkalinizing urine by
giving potassium citrate after the first operation, recurrent renal stones were found. Therefore, after
the second operation, D-penicillamine was additionally introduced. During the 18-month follow-up,
although there were recurrent renal stones, the rate of stone formation was slower. To the authors'
knowledge, this is the first case report in Thailand.
Keywords : Recurrent Renal Stones, Cystinuria, D-Penicillamine, Alkalinization
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