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Familial juvenile gout

MedGen UID:
75651
•Concept ID:
C0268113
•
Disease or Syndrome
Synonyms: Familial juvenile gouty nephropathy; Familial juvenile hyperuricemic nephropathy; Familial nephropathy associated with hyperuricemia; Familial nephropathy with gout; Juvenile gouty nephropathy
SNOMED CT: Familial gout with renal failure (46785007); Familial juvenile gouty nephropathy (46785007); Familial juvenile hyperuricemia nephropathy (46785007); Familial juvenile gout (46785007); Precocious adolescent gout (46785007); Familial gout nephropathy (46785007)
 
Related genes: SEC61A1, UMOD, HNF1B, REN
 
Monarch Initiative: MONDO:0000608
OMIM® Phenotypic series: PS162000

Professional guidelines

PubMed

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Recent clinical studies

Diagnosis

HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
Mishima E, Mori T, Nakajima Y, Toyohara T, Kikuchi K, Oikawa Y, Matsuhashi T, Maeda Y, Suzuki T, Kudo M, Ito S, Sohara E, Uchida S, Abe T
CEN Case Rep 2020 Aug;9(3):210-214. Epub 2020 Mar 3 doi: 10.1007/s13730-020-00459-9. PMID: 32128695Free PMC Article

Therapy

HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
Mishima E, Mori T, Nakajima Y, Toyohara T, Kikuchi K, Oikawa Y, Matsuhashi T, Maeda Y, Suzuki T, Kudo M, Ito S, Sohara E, Uchida S, Abe T
CEN Case Rep 2020 Aug;9(3):210-214. Epub 2020 Mar 3 doi: 10.1007/s13730-020-00459-9. PMID: 32128695Free PMC Article

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