[Familial juvenile hyperuricemic nephropathy (FJHN)]

[Familial juvenile hyperuricemic nephropathy (FJHN)] Research Abstract Details 

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[Familial juvenile hyperuricemic nephropathy (FJHN)] Abstract Text:

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.

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PUBLICATION TYPE: Journal Article

Journal: Nippon rinsho. Japanese journal of clinical medici

VOLUME: 66

Page Numbers: 683-6

Journal Abbreviation: Nippon Rinsho

ISSN: 0047-1852

DAY: 15

MONTH: Apr

YEAR: 2008

[Familial juvenile hyperuricemic nephropathy (FJHN)] Information

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LANGUAGE: jpn

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AFFILIATION: 'Department of Human Pathology, Institute of Health Biosciences, University of Tokushima Graduate School.

Country: Japan

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MEDLINETA: Nippon Rinsho

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