title: [Phenotypical manifestations of cystinuria: a study of 20 families in the Community of Valencia].
abstract: BACKGROUND
  The aim of this study was to classify phenotypically cystinuria patients in the Comunidad Valenciana using their genealogy and to study the large heterogeneity of the disease expression.
  
  
  METHODS
  From 29 patients diagnosed of cystinuria, 20 families were enrolled in the study. An urine sample of every subject was collected to quantify urine amino acids using high pressure liquid chromatography. We also looked for the presence of cystine crystals. Genetic analyses were carried out using PCR (Polymerase Chain Reaction), and RFLPs (Restriction Fragment Length Polymorphisms). Demographic and clinical characteristics were recorded in a standard questionnaire.
  
  
  RESULTS
  From 20 families, 4 were classified Type I, 10 as Type non I, and 6 as Type unknown. Type I cystinuria patients showed the highest urinary levels of cystine and ornithine. We also found an association of cystine crystals and M467T mutation in SLC3A1 gene with Type I. However, we did not find a higher risk of nephrolithiasis associated to any family type.
  
  
  CONCLUSIONS
  Phenotypical characterization of patients with cystinuria has showed the wide variability of phenotypical traits indeed in the same transmission pattern. This variability could be due to the genetic and environmental heterogeneity which has developed this pathology and modulated its evolution.
authors.affiliation: Unidad de Epidemiología Genética y Molecular. Departamento de Medicina Preventiva y Salud Pública. Universitat de València. Valencia. marisa.guillen@uv.es
authors.forename: M
authors.initials: M
authors.lastname: Guillén
authors.forename: D
authors.initials: D
authors.lastname: Corella
authors.forename: M
authors.initials: M
authors.lastname: Luisa Cabello
authors.forename: J I
authors.initials: JI
authors.lastname: González
authors.forename: J
authors.initials: J
authors.lastname: Hernández Yago
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000652:urine; D002675:Child, Preschool; D003404:Creatinine / Q000652:urine; D003553:Cystine / Q000378:metabolism; D003555:Cystinuria / Q000145:classification / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008239:Lysine / Q000652:urine; D008297:Male; D008875:Middle Aged; D009952:Ornithine / Q000652:urine; D010375:Pedigree; D010641:Phenotype; D013030:Spain
chemical_list: D003553:Cystine; D001120:Arginine; D003404:Creatinine; D009952:Ornithine; D008239:Lysine