Two cases with autosomal recessive Alport syndrome received living renal transplantation from thin basement membrane nephropathy donors with heterozygous mutations in COL4A3 and COL4A4

• Kajiho Yuko

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University Department of Pediatrics, Graduate School of Medicine, The University of Tokyo

• Ueda Hiroaki

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

• Mizutani Makoto

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

• Taniguchi Kimiko

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

• Furuyama Masayuki

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

• Ishizuka Kiyonobu

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

• Fujii Hiroshi

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

• Chikamoto Hiroko

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

• Akioka Yuko

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

• Oka Masashi

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Nozu Kandai

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Iijima Kazumoto

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Hattori Motoshi

  Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University

Bibliographic Information

Other Title

• ＣＯＬ４Ａ３／ＣＯＬ４Ａ４のヘテロ接合体変異を有する菲薄基底膜腎症のドナーから生体腎移植を実施した常染色体劣性アルポート症候群の２例

Abstract

 Thin basement membrane nephropathy (TBMN) is characterized by both microscopic hematuria clinically and diffusely thinned glomerular basement membrane pathologically. TBMN has been known to have a good renal prognosis which rarely induces end stage renal disease (ESRD) so far. However, it was reported that heterozygous mutations in COL4A3 and COL4A4, responsible for autosomal recessive Alport syndrome (ARAS), were found in about 40% of TBMN and some of them could progress to ESRD. We report here that two patients with ARAS received living renal transplantation from TBMN donors and heterozygous mutations in COL4A3 or COL4A4 were found in the donors after the transplantation. We confirmed that the kidney function of the donors was good before transplantation, and has been kept good till now. Heredity renal disease patients may have no choice but to receive kidneys from mutation career donors, if they hope living donor renal transplantation. In those cases, we should examine donors carefully, including urinalysis, kidney functions and genome analysis before transplantation, and need careful follow-up after transplantation.

Journal

• Japanese journal of pediatric nephrology

  Japanese journal of pediatric nephrology 23 (2), 113-118, 2010

  The Japanese Society for Pediatric Nephrology

Keywords

• Thin basement membrane nephropathy
• autosomal recessive Alport syndrome
• <i>COL4A3/COL4A4</i>
• living renal transplantation
• donor evaluation

Details

• CRID: 1390001204338408064
• NII Article ID: 130000814249
• DOI: 10.3165/jjpn.23.113
• ISSN: 18813933
• ISSN: 09152245
• Web Site: https://search.jamas.or.jp/link/ui/2011059052
• Text Lang: ja
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed