Childhood course of renal insufficiency in a family with a uromodulin gene mutation.
Mutations in the UMOD gene encoding uromodulin (Tamm-Horsfall glycoprotein) result in the autosomal dominant transmission of progressive renal insufficiency and hypo-uricosuric hyperuricemia leading to gout at an early age. The clinical appearance is characterized by renal insufficiency and gout occurring in the late teenage years, with end-stage kidney disease characteristically developing between 40 and 70 years of age. This report provides a long-term characterization of renal functional decline in three children from one family with a novel UMOD mutation (c.891T>G, p.C297W) who received allopurinol and a low protein diet. While renal functional decline is slow in individuals with UMOD mutations, it may appear early in life and be associated with marked hyperuricemia. Anemia was also noted in this family.
Schäffer
Péter
P
Department of Nephrology and Gastroenterology, Heim Pál Children's Hospital, Budapest, Hungary.
Gombos
Eva
E
Meichelbeck
Krisztina
K
Kiss
András
A
Hart
P Suzanne
PS
Bleyer
Anthony J
AJ
D000328:Adult; D000493:Allopurinol / Q000627:therapeutic use; D000740:Anemia / Q000235:genetics; D000963:Antimetabolites / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D018753:Diet, Protein-Restricted; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005919:Glomerular Filtration Rate; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics / Q000517:prevention & control; D007223:Infant; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000503:physiopathology / Q000517:prevention & control; D007677:Kidney Function Tests; D008297:Male; D009088:Mucoproteins / Q000235:genetics*; D009154:Mutation; D058949:Uromodulin
D000963:Antimetabolites; D009088:Mucoproteins; C548612:UMOD protein, human; D058949:Uromodulin; D000493:Allopurinol