首页> 美国卫生研究院文献>CEN Case Reports >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
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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

机译:由父母将肾脏移植到常染色体隐性隐性Alport综合征的兄弟姐妹这是由于COL4A3基因内含反义Alu元件重排导致的结果不同

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摘要

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.
机译:患有常染色体隐性遗传性Alport综合征(ARAS)的两个兄弟姐妹从其近亲父母那里获得了肾脏移植。他们的COL4A3 mRNA转录物被外显子48和49之间的139 bp内含子序列打断,该序列来自该内含子的反义Alu元件。隐性外显子的新氨基酸序列在第1511个密码子处终止密码子终止,导致丢失76%α3(IV)NC1。这是ARAS纯合兄弟姐妹与其杂合父母之间进行肾脏移植的第一例报道。兄弟在移植和移植后抗肾小球基底膜(GBM)肾炎刚发生后就经历了急性排斥反应,而迄今为止,姐姐没有遇到任何问题。抗GBM肾炎可能是由急性排斥反应引起的。迄今为止,肾移植后COL4A3基因杂合突变的父母可能存在薄基膜疾病的风险,在没有泌尿异常的情况下仍保持了其肾功能。

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