title: Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.
abstract: BACKGROUND
  Familial juvenile hyperuricaemic nephropathy is a rare inherited nephropathy with genetic heterogeneity. Categorised by genetic defect, mutations in uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1β (HNF-1β) genes as well as linkage to chromosome 2p22.1-21 have previously been identified. Knowledge of the genetics of this phenotype has provided important clues to developmental pathways in the kidney.
  
  
  METHODS
  We report a novel phenotype, with the typical features of hyperuricemia and renal deterioration, but with the additional unexpected feature of unilateral renal hypoplasia. Mutation analyses of the existing known genes and genetic loci were negative indicating a new monogenic cause. Interestingly two cousins of the index case did not share the latter feature, suggesting a modifier gene effect.
  
  
  CONCLUSIONS
  Unilateral renal hypo/aplasia is usually sporadic and relatively common, with no genetic cause to date identified. This reported pedigree reveals the possibility that a new, unknown renal developmental gene may be implicated in the FJHN phenotype.
authors.forename: Lucy A
authors.initials: LA
authors.lastname: Plumb
authors.forename: Matko
authors.initials: M
authors.lastname: Marlais
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Bierzynska
authors.forename: Howard
authors.initials: H
authors.lastname: Martin
authors.forename: Kim
authors.initials: K
authors.lastname: Brugger
authors.forename: Stephen
authors.initials: S
authors.lastname: Abbs
authors.affiliation: Department of Paediatric Nephrology, University of Bristol, Bristol Royal Hospital for Children, Bristol BS2 8BJ, UK. m.saleem@bristol.ac.uk.
authors.forename: Moin A
authors.initials: MA
authors.lastname: Saleem
mesh_terms: D000293:Adolescent; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006073:Gout / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D033461:Hyperuricemia / Q000175:diagnosis* / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010375:Pedigree; D019683:Penetrance; D051436:Renal Insufficiency, Chronic / Q000175:diagnosis* / Q000235:genetics*