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Analysis of a 1‐year‐old cystinuric patient with recurrent renal stones
Author(s) -
TANZER FATOS,
OZGUR ARZU,
BARDAKCI FEVZI,
CANKORKMAZ LEVENT,
AYAN SEMIH
Publication year - 2006
Publication title -
international journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.172
H-Index - 67
eISSN - 1442-2042
pISSN - 0919-8172
DOI - 10.1111/j.1442-2042.2006.01550.x
Subject(s) - cystinuria , cystine , medicine , ornithine , aminoaciduria , arginine , mutation , compound heterozygosity , lysine , amino acid , gastroenterology , endocrinology , pediatrics , urology , genetics , gene , biochemistry , cysteine , urine , biology , enzyme
Cystinuria is a hereditary disorder of cystine and dibasic amino acids (lysine, arginine, ornithine) transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. Cystine stones frequently occur in the second or third decade of life with an occasional occurrence in infancy and in old age. Herein is presented the case of a 1‐year‐old girl with cystinuria and recurrent urolithiasis; the genetic basis of the disease was investigated by mutational analysis of the SLC3A1 gene. The data show that the present patient has an increased cystine (923.08 µg/mL) level and was heterozygote for M467T mutation.