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1.
Annals of Laboratory Medicine ; : 293-296, 2013.
Artículo en Inglés | WPRIM | ID: wpr-105282

RESUMEN

Familial juvenile hyperuricemic nephropathy (FJHN; OMIM 162000) is an autosomal dominant disorder characterized by hyperuricemia and gouty arthritis due to reduced kidney excretion of uric acid and progressive renal failure. Gradual progressive interstitial renal disease, with basement membrane thickening and glomerulosclerosis resulting from fibrosis, starts in early life. In most cases of FJHN, uromodulin gene (UMOD) is responsible for the disease; however, there has been only one report of a genetically confirmed FJHN family in Korea. Here we report another Korean family with FJHN, in which three male members. a father and 2 sons.developed gout and progressive renal insufficiency. The clinical, laboratory, and radiological findings were consistent with FJHN, and renal biopsy showed chronic parenchymal damage, which can be found in FJHN but is not specific to this disease. In order to confirm the diagnosis, sequence analysis of the UMOD was performed, and a novel heterozygous missense variant (c.187T>C; p.Cys63Arg) in exon 3 was identified. We assume that this variant is likely to be the causative mutation in this family, as the variant segregated with the disease. In addition, approximately two-thirds of the known mutations lead to a cysteine amino acid change in uromodulin, and all such variants have been shown to cause UMOD-associated kidney disease. In summary, we report a Korean FJHN family with three affected members by genetic analysis of the UMOD, and provide the first report of a novel heterozygous missense mutation.


Asunto(s)
Adolescente , Adulto , Humanos , Masculino , Secuencia de Bases , Análisis Mutacional de ADN , Exones , Gota/genética , Heterocigoto , Hiperuricemia/genética , Enfermedades Renales/genética , Mutación Missense , Linaje , Polimorfismo de Nucleótido Simple , República de Corea , Uromodulina/química
2.
Journal of Korean Medical Science ; : 1680-1682, 2010.
Artículo en Inglés | WPRIM | ID: wpr-152645

RESUMEN

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.


Asunto(s)
Adolescente , Humanos , Masculino , Pueblo Asiatico/genética , Cromosomas Humanos Par 16 , Enfermedad Crónica , Análisis Mutacional de ADN , Genes Dominantes , Heterocigoto , Hiperuricemia/genética , Enfermedades Renales/genética , Mutación Missense , Linaje , República de Corea , Ácido Úrico/sangre , Uromodulina/genética
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