title: Analysis of a 1-year-old cystinuric patient with recurrent renal stones.
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.
authors.affiliation: Department of Pediatrics, Cumhuriyet University, Sivas, Turkey. ftanzer@cumhuriyet.edu.tr
authors.forename: Fatos
authors.initials: F
authors.lastname: Tanzer
authors.forename: Arzu
authors.initials: A
authors.lastname: Ozgur
authors.forename: Fevzi
authors.initials: F
authors.lastname: Bardakci
authors.forename: Levent
authors.initials: L
authors.lastname: Cankorkmaz
authors.forename: Semih
authors.initials: S
authors.lastname: Ayan
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics* / Q000378:metabolism; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics* / Q000378:metabolism; D001692:Biological Transport / Q000235:genetics; D003555:Cystinuria / Q000150:complications* / Q000235:genetics / Q000652:urine; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007669:Kidney Calculi / Q000150:complications* / Q000235:genetics / Q000652:urine; D009154:Mutation; D011110:Polymorphism, Genetic; D012008:Recurrence; D013997:Time Factors
chemical_list: D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; C489857:SLC3A1 protein, human