J Korean Med Sci.  2010 Nov;25(11):1680-1682. 10.3346/jkms.2010.25.11.1680.

A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea

• Lee DH
• Kim JK
• Oh SE
• Noh JW
• Lee YK

• KMID: 1779244
• DOI: http://doi.org/10.3346/jkms.2010.25.11.1680

Abstract

Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not all families with FJHN, genetic studies have revealed mutations in the uromodulin (UMOD) gene located on chromosome 16p11-p13. We here described a novel heterozygous missense mutation (c.1382C>A causing p.Ala461Glu) in an affected 16-year-old male with hyperuricemia, gout and chronic kidney disease. His father was also affected and the UMOD mutation was found to segregate with the disease. There has been only one case report of Korean family with FJHN, which has not been diagnosed by genetic study. This is the first report of genetically diagnosed FJHN in Korea.

Keyword

Hyperuricemia; Tamm-Horsfall protein; Mutation

MeSH Terms

Adolescent
Asian Continental Ancestry Group/*genetics
Chromosomes, Human, Pair 16
Chronic Disease
DNA Mutational Analysis
Genes, Dominant
Heterozygote
Humans
Hyperuricemia/*genetics
Kidney Diseases/genetics
Male
*Mutation, Missense
Pedigree
Republic of Korea
Uric Acid/blood
Uromodulin/*genetics

Figure

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  Fig. 1 Pedigree of a family with familial juvernile hyperuricemic nephropathy. An arrow represents a patient of this case report. Underlines represent individuals who supplied DNA samples.

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  Fig. 2 Uromodulin (UMOD) gene analysis in the patient and his father. (A) Sequence of the patient with exon 6 c.1382C>A heterozygous missense mutation (arrow). (B) The same mutation (arrow) sequenced in his father.

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