Table 1.

Clinico-pathologic findings in 184 genetically tested members in the 16 pedigrees under study

FamilyNo. of All Family Members with DNA SampleFamily Members at Risk with DNA SampleMCMC with Negative Urine FindingsMC + MH OnlyMC + MH and Proteinuria OnlyMC + MH and Proteinuria and CRF/ESRD Age in Years and Gender of Those Who Reached ESRD
CY530888583782315 (M37, M55, M72)
CY5327a10740211
CY5332151391503 (M51, F62)
CY5380a7760501
CY5384a6430111 (M40)
CY5386a5310001 (M54)
CY5387a7740202 (M30, F55)
CY5388a9960105 (M48, M55, M70, F69)
CY53905530102 (M49)
CY53918730201
CY53988740202 (M48)
CY53994330300
UK101a7640301
UK115a3320101 (M50)
UK116a1110001 (M36)
UK1241110001 (F56)
Sum18414191/1419/9151/913/9128/91
%65%10%56%3%31%
  • Actually in two occasions we could obtain samples only from single patients in London (UK116, UK124). MC, mutation carrier; MH, macroscopic hematuria; CRF, chronic renal failure; ESRD, end stage renal disease.

  • a Some of the 26 patients reported by Gale et al. (12) belonged to these families that were expanded in this work. Some patients were initially identified as sporadic cases in our renal DNA bank.