Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Familial juvenile hyperuricemic nephropathy (FJHN)].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 2008

Kudo Eiji, Itakura Mitsuo

Abstract excerpt

Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disease characterized by hyperuricemia of underexcretion type, gout, and chronic renal failure. Recent discovery of uromodulin mutations as a cause of FJHN and MCKD2 led a new concept, i.e. uromodulin-associated kidney disease (UAKD). The genotype-phenotype correlation and genetic heterogeneity of FJHN are reviewed.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genes, Dominant
Share to Genetic Heterogeneity
Share to Gout

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperuricemia

Share to Kidney Failure, Chronic

Share to Mucoproteins

Share to Mutation

Share to Uromodulin

Source

Identifiers

PMID: 18409515

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Familial juvenile hyperuricemic nephropathy (FJHN)].PMID 18409515Read ↗

Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.Semantic proximity Read ↗

[Familial juvenile hyperuricemic nephropathy].Semantic proximity Read ↗

Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.Semantic proximity Read ↗

A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.Semantic proximity Read ↗

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.Semantic proximity Read ↗

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.Semantic proximity Read ↗

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulumSemantic proximity Read ↗

[Uromodulin mutation and hyperuricemia].Semantic proximity Read ↗

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.