Analysis of a 1-year-old cystinuric patient with recurrent renal stones.
Int J Urol
; 13(10): 1347-9, 2006 Oct.
Article
en En
| MEDLINE
| ID: mdl-17010017
ABSTRACT
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 microg/mL) level and was heterozygote for M467T mutation.
Buscar en Google
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cálculos Renales
/
Cistinuria
/
Sistemas de Transporte de Aminoácidos Básicos
/
Sistemas de Transporte de Aminoácidos Neutros
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Int J Urol
Asunto de la revista:
UROLOGIA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Turquía