Cystinuria: a rare diagnosis that should not be missed.
Cystinuria is a rare autosomal recessive defect causing recurrent urinary tract stone formation. Morbidity from stone formation and repeated urological interventions can be reduced by early diagnosis and adequate medical treatment. In this review, we illustrate these points by discussing three patients with cystinuria and give a brief review of its management.
Department of Surgery, The Chinese University of Hong Kong, Shatin, Hong Kong.
Peter K F
PK
Chiu
Eddie S Y
ES
Chan
Simon S M
SS
Hou
C F
CF
Ng
D000328:Adult; D000959:Antihypertensive Agents / Q000627:therapeutic use; D002614:Chelating Agents / Q000627:therapeutic use; D003555:Cystinuria / Q000175:diagnosis*; D004231:Diuresis; D004232:Diuretics / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000737:chemistry / Q000209:etiology* / Q000628:therapy; D008297:Male; D014545:Urinary Calculi / Q000737:chemistry / Q000209:etiology* / Q000628:therapy; D055815:Young Adult
D000959:Antihypertensive Agents; D002614:Chelating Agents; D004232:Diuretics