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Familial juvenile gout

Known as: GOUTY NEPHROPATHY, FAMILIAL JUVENILE, Mckd2, Uromodulin Storage Disease 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal dominant inheritanceHyperuricemiaKidney FailureMCKD2 gene

Broader (3)

Chronic Urate NephropathyGoutKidney Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
Uromodulin (UMOD) gene mutation causes autosomal dominant Uromodulin-Associated Kidney Disease (UAKD), which in turn leads to end… 
2015
2015
Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat
BackgroundFamilial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder caused by mutations in UMOD that… 
2013
2013
Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.
Chronic kidney disease (CKD) is a life-long condition associated with substantial morbidity and premature death due to… 
2012
2012
Novel Uromodulin Mutation in Familial Juvenile Hyperuricemic Nephropathy
Background: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder characterized by early onset of… 
2009
2009
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)
Uromodulin (UMOD) mutations were described in patients with medullary cystic kidney disease (MCKD2), familial juvenile… 
Review
2007
Review
2007
Mechanism of injury in uromodulin-associated kidney disease.
Nephronophthisis (NPHP), medullary cystic kidney disease (MCKD), and familial juvenile hyperuricemic nephropathy (FJHN) are three… 
Review
2007
Review
2007
Outcome of kidney transplantation in familial juvenile hyperuricaemic nephropathy.
Familial juvenile hyperuricaemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD) are rare autosomal-dominant… 
2006
2006
Familial Juvenile Hyperuricaemic Nephropathy is not Such a Rare Genetic Metabolic Purine Disease in Britain
Renal disease is rare today in classic adult gout, and gout is rare in renal disease—especially in the young. Here we summarise… 
2003
2003
Familial juvenile hyperuricaemic nephropathy.
  • J. PuigR. Torres
  • QJM : monthly journal of the Association of…
  • 2003
  • Corpus ID: 17352781
Sir, Fairbanks et al .1 raise three contentious aspects concerning familial juvenile hyperuricaemic nephropathy (FJHN): (a… 
2003
2003
Familial juvenile hyperuricaemic nephropathy.
  • A. BleyerT. Hart
  • QJM : monthly journal of the Association of…
  • 2003
  • Corpus ID: 44928232
Sir, We would like to take this opportunity to provide some updated information regarding the pathogenesis of familial juvenile… 
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