title: Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.
abstract: OBJECTIVE
  Uromodulin-associated kidney disease (UAKD) is caused by uromodulin mutations and leads to end-stage renal disease. Our objective was to examine the epidemiology of UAKD.
  
  
  METHODS
  Data from all UAKD families in Austria were collected. Patients included in the Austrian Dialysis and Transplantation Registry (OEDTR) with unclear diagnoses or genetic diseases were asked whether they had (1) a family history of kidney disease or (2) had suffered from gout. Patients with gout and autosomal dominant renal disease underwent mutational analysis. Kaplan-Meier and Cox analysis was employed to estimate time to renal failure.
  
  
  RESULTS
  Of the 6,210 patients in the OEDTR, 541 were approached with a questionnaire; 353 patients answered the questionnaire. Nineteen of them gave two affirmative answers. In 7 patients, an autosomal dominant renal disease was found; in 1 patient a UMOD mutation was identified. One family was diagnosed through increased awareness as a consequence of the study. At present, 14 UAKD patients from 5 families are living in Austria (1.67 cases per million), and 6 of them require renal replacement therapy (0.73 per 1,000 patients). Progression to renal failure was significantly associated with UMOD genotype.
  
  
  CONCLUSIONS
  UAKD patients can be identified by a simple questionnaire. UMOD genotype may affect disease progression.
authors: Department of Nephrology and Dialysis, Academic Teaching Hospital Feldkirch, Austria.
authors: Karl
authors: K
authors: Lhotta
authors: Sian E
authors: SE
authors: Piret
authors: Reinhard
authors: R
authors: Kramar
authors: Rajesh V
authors: RV
authors: Thakker
authors: Gere
authors: G
authors: Sunder-Plassmann
authors: Peter
authors: P
authors: Kotanko