Familial cystinuria in Ioannina District (Greece). Diagnosis and treatment.
The "Urocystin Test" has been used as a screening procedure for the diagnosis of the incidence of cystinuria in Ioannina District (Northwest Greece). From the 210 investigated urine samples, eight were positive and four of them were also L-cystine stone formers. All positive cases belong to two cystinuric families. The pedigree in village "Kato-Lapsista" is a genetic type of a "completely recessive cystinuria" while the other one in "Marmara" is the type of an "incompletely recessive cystinuria". All patients with L-cystine urolithiasis, except one child, were treated with the drug Thiola.
D000293:Adolescent; D000328:Adult; D002648:Child; D003555:Cystinuria / Q000188:drug therapy / Q000235:genetics* / Q000652:urine; D005260:Female; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D008625:Tiopronin / Q000627:therapeutic use
D008625:Tiopronin