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

DOI 17 References
  • YAMAZAKI Osamu
    Department of Nephrology and Endocrinology, Faculty of medicine, The University of Tokyo
  • OBA Shigeyoshi
    Department of Nephrology and Endocrinology, Faculty of medicine, The University of Tokyo
  • YAMAGUCHI Junna
    Department of Nephrology and Endocrinology, Faculty of medicine, The University of Tokyo
  • ISHIBASHI Yoshitaka
    Department of Nephrology and Endocrinology, Faculty of medicine, The University of Tokyo
  • HORI Yuichi
    Department of Nephrology and Endocrinology, Faculty of medicine, The University of Tokyo
  • FUKUMOTO Seiji
    Department of Nephrology and Endocrinology, Faculty of medicine, The University of Tokyo
  • FUJIMORI Shin
    Department of Internal Medicine, Faculty of medicine, Teikyo University
  • UCHIDA Shunya
    Department of Internal Medicine, Faculty of medicine, Teikyo University
  • FUJITA Toshiro
    Department of Nephrology and Endocrinology, Faculty of medicine, The University of Tokyo

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Other Title
  • 痛風腎と異なる超音波検査所見を経過観察出来た，ＵＭＯＤ遺伝子変異による家族性高尿酸血症性腎症の透析導入症例

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Description

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.

Journal

  • Choonpa Igaku

    Choonpa Igaku 36 (1), 49-51, 2009

    The Japan Society of Ultrasonics in Medicine

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