Table 4

 Renal disease and extra-renal phenotypes of all 23 probands with an HNF-1β mutation

Renal diseaseRenal disease,n (%)DiabetesFH diabetes onlyGenital tract abnormalitiesNo diabetes or genital tract abnormalities
Classifications of individual renal categories are all defined in the text and are exclusive. Diabetes and genital tract abnormalities may coexist in a single proband. FJHN, familial juvenile hyperuricaemic nephropathy; FH, diabetes only, family history of diabetes but no diabetes in probands; GCKD, glomerulocystic kidney disease.
Renal cystic disease and cystic dysplasia14 (61%)6317
GCKD4 (17%)2002
Atypical FJHN (with renal cysts n = 1)2 (9%)2000
Renal dysplasia1 (4%)1000
Renal malformations (single kidney n = 2)2 (9%)0011
Total23 (100%)11 (48%)3 (13%)2 (9%)10 (43%)