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先天性角化不良与角膜屈光手术

Dyskeratosis Congenita and Corneal Refractive Surgery.

作者信息

Heiland Madeline B, Moshirfar Majid, Rosen David B, Ronquillo Yasmyne C, Hoopes Phillip C

机构信息

The University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.

John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah School of Medicine, Salt Lake City, UT, USA.

出版信息

Ophthalmol Ther. 2019 Sep;8(3):361-365. doi: 10.1007/s40123-019-0200-z. Epub 2019 Jul 16.

DOI:10.1007/s40123-019-0200-z
PMID:31313220
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6692790/
Abstract

Dyskeratosis congenita is a syndrome of bone marrow failure secondary to unstable telomeres. It is characterized by a range of mucocutaneous diseases. Due to premature telomere shortening, these patients have limbal stem cell deficiency leading to poor regeneration and maintenance of the cornea. Many of these patients will require hematopoietic stem cell transplant in their lifetime, which poses a significant risk for acute and chronic graft-versus-host disease with and without ocular manifestations. We advise against elective corneal refractive surgery in patients with dyskeratosis congenita due to the compounded and long-term risks of delayed healing secondary to limbal stem cell deficiency and ocular complications of graft-versus-host disease post-allogeneic hematopoietic stem cell transplant.

摘要

先天性角化不良是一种由不稳定端粒导致的骨髓衰竭综合征。其特征为一系列皮肤黏膜疾病。由于端粒过早缩短，这些患者存在角膜缘干细胞缺陷，导致角膜再生和维持能力差。这些患者中的许多人一生中都需要进行造血干细胞移植，这会带来发生急性和慢性移植物抗宿主病的重大风险，无论有无眼部表现。由于角膜缘干细胞缺陷导致愈合延迟的复合长期风险以及异基因造血干细胞移植后移植物抗宿主病的眼部并发症，我们不建议对先天性角化不良患者进行选择性角膜屈光手术。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/a7f65af0d98f/40123_2019_200_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/5b0da7b91247/40123_2019_200_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/1cf6844e9333/40123_2019_200_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/a156790b8417/40123_2019_200_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/a7f65af0d98f/40123_2019_200_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/5b0da7b91247/40123_2019_200_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/1cf6844e9333/40123_2019_200_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/a156790b8417/40123_2019_200_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f6/6692790/a7f65af0d98f/40123_2019_200_Fig4_HTML.jpg

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本文引用的文献

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Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.先天性角化不良伴DKC1基因新的遗传变异：一例报告
BMC Med Genet. 2018 May 25;19(1):85. doi: 10.1186/s12881-018-0584-y.
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Beginning at the ends: telomeres and human disease.从末端开始：端粒与人类疾病。
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