Association between genotype and phenotype in uromodulin-associated kidney disease
JL Moskowitz, SE Piret, K Lhotta… - Clinical Journal of the …, 2013 - journals.lww.com
Results Thirty-one peer-reviewed publications reporting on 202 patients from 74 families
with 59 different UMOD mutations were included. Median ages at onset of hyperuricemia,
gout, and ESRD were 24, 40, and 56 years, respectively. Men developed gout and ESRD
significantly earlier than did women (age at ESRD was 50 years for men and 60 for women;
P= 0.04, shared frailty model). Median ages at ESRD development were lowest with
Cys77Tyr (37.5 years) and highest with Gln316Pro (65.5 years) UMOD mutations. Onset of …
with 59 different UMOD mutations were included. Median ages at onset of hyperuricemia,
gout, and ESRD were 24, 40, and 56 years, respectively. Men developed gout and ESRD
significantly earlier than did women (age at ESRD was 50 years for men and 60 for women;
P= 0.04, shared frailty model). Median ages at ESRD development were lowest with
Cys77Tyr (37.5 years) and highest with Gln316Pro (65.5 years) UMOD mutations. Onset of …