Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes

CEN Case Reports
Jun-Ya KaimoriShiro Takahara

Abstract

Two siblings with autosomal recessive Alport syndrome (ARAS) obtained renal transplants from their consanguineous parents. Their COL4A3 mRNA transcripts were disrupted by a 139 bp intronic sequence between exon 48 and 49, which was derived from an antisense Alu element in this intron. The new amino acid sequence from the cryptic exon was terminated by a stop codon at the 1511th codon, resulting in the loss of 76 % α3(IV)NC1. This is the first case report of kidney transplantations between ARAS-homozygous siblings and their heterozygous parents. The brother experienced acute rejection just after transplantation and post-transplantation anti-glomerular basement membrane (GBM) nephritis, whereas the sister has experienced no problems to date. The anti-GBM nephritis could have resulted from the acute rejection. The COL4A3 gene heterozygous mutated parents, who are possibly at risk for thin basement membrane disease, have maintained their renal functions without urinary abnormalities after renal transplantation to date.

References

Oct 1, 1989·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·L P vd HeuvelJ H Veerkamp
Mar 1, 1984·European Journal of Biochemistry·S WeberR Timpl
Aug 17, 2006·Pediatric Transplantation·Clifford E Kashtan
Nov 26, 2008·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Oliver GrossGerhard-Anton Müller

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Citations

Feb 6, 2019·Journal of Clinical Medicine·Jiwon M LeeHae Ii Cheong

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