A ESRD patient with FJHN due to UMOD gene mutation evaluated by ultrasonography

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.