[source]
pmid = PMID:15673476
title = A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
[diagnosis]
disease_id = OMIM:162000
disease_label = Tubulointerstitial kidney disease, autosomal dominant, 1
[text]
The proband is an affected female who was first evaluated at the age of 24, when she presented with a gout attack and hyperuricemia.
 At age 27 she was told having renal failure. However, a renal biopsy was not performed.
 At age 44, serum creatinine was 2.8 mg/dl and ultrasound imaging detected numerous renal cysts.
 Renal disease slowly progressed and the patient reached ESRD when she was 49 years old.
 Her father died at the age of 55 from ESRD and suffered from hyperuricemia and gout.
 The proband's only son is also affected. At the age of 18 years he had a gout attack.
 On the initial evaluation, serum uric acid was 15 mg/dl and serum creatinine 1.6 mg/dl.
 Renal cysts were also detected on ultrasound examination.