Choonpa Igaku
Online ISSN : 1881-9311
Print ISSN : 1346-1176
ISSN-L : 1346-1176
CASE REPORTS
A ESRD patient with FJHN due to UMOD gene mutation evaluated by ultrasonography
Osamu YAMAZAKIShigeyoshi OBAJunna YAMAGUCHIYoshitaka ISHIBASHIYuichi HORISeiji FUKUMOTOShin FUJIMORIShunya UCHIDAToshiro FUJITA
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2009 Volume 36 Issue 1 Pages 49-51

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Abstract
The patient was a 37-year-old man with end-stage renal disease. He was diagnosed with hyperuricemia and chronic kidney disease when he was 11 years old. He had a family history of gout in his mother and grandmother. He was suffering from anomalies of uric acid transport and renal function with a c860 G>A mutation in exon 4 of the uromodulin gene, resulting in a substitution of tyrosine for an evolutionary conserved cystine. Hemodialysis was initiated. Abdominal ultrasonography revealed renal atrophy and calyceal dilatation. Past ultrasonography showed renal stone and calyceal dilatation. In this case, ultrasonography offered advantages in terms of studying the mechanism of kidney damage.
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© 2009 The Japan Society of Ultrasonics in Medicine
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