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一例肾病性胱氨酸病患者的后段光学相干断层扫描结果

Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis.

作者信息

Al Abdulsalam Omar

机构信息

Ophthalmology Division, King Abdulaziz Hospital, Ministry of National Guard Health Affairs, Al Ahsa, King Abdullah International Medical Research Center (KAIMRC), Saudi Arabia.

出版信息

Saudi J Ophthalmol. 2020 Dec 28;34(2):142-144. doi: 10.4103/1319-4534.305049. eCollection 2020 Apr-Jun.

DOI:10.4103/1319-4534.305049
PMID:33575541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7866722/
Abstract

Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by abnormal accumulation of intracellular cystine in various tissues including the brain, kidneys, bones, and eyes. Infantile nephropathic cystinosis is the most severe phenotype of cystinosis that has been associated with a wide spectrum of ocular features. In this report, the author describes a posterior segment spectral-domain optical coherence tomography (SD-OCT) finding that has not been previously reported in a case of nephropathic cystinosis.

摘要

胱氨酸病是一种罕见的常染色体隐性溶酶体贮积症，其特征是细胞内胱氨酸在包括脑、肾、骨和眼在内的各种组织中异常蓄积。婴儿型肾病性胱氨酸病是胱氨酸病最严重的表型，与广泛的眼部特征相关。在本报告中，作者描述了一种先前在肾病性胱氨酸病病例中未报道过的后段光谱域光学相干断层扫描（SD-OCT）检查结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d00b/7866722/8429be1930a7/SJO-34-142-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d00b/7866722/d2896728dd15/SJO-34-142-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d00b/7866722/8429be1930a7/SJO-34-142-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d00b/7866722/d2896728dd15/SJO-34-142-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d00b/7866722/8429be1930a7/SJO-34-142-g002.jpg

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本文引用的文献

1
Ocular changes in nephropathic cystinosis: The course of the gold-dust.肾病型胱氨酸病的眼部变化：金粉尘的病程。
Int Ophthalmol. 2019 Jun;39(6):1413-1418. doi: 10.1007/s10792-018-0954-7. Epub 2018 Jun 18.
2
Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis.临床实践：针对胱氨酸病患者的拟标准化眼科评估
Ophthalmol Ther. 2017 Jun;6(1):93-104. doi: 10.1007/s40123-017-0089-3. Epub 2017 May 5.
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Ocular Complications of Infantile Nephropathic Cystinosis.婴儿型肾性胱氨酸病的眼部并发症
J Pediatr. 2017 Apr;183S:S19-S21. doi: 10.1016/j.jpeds.2016.12.055.
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Efficacy of topical cysteamine in nephropathic cystinosis.局部用半胱胺治疗肾病性胱氨酸病的疗效
Br J Ophthalmol. 2017 Sep;101(9):1234-1237. doi: 10.1136/bjophthalmol-2016-309278. Epub 2017 Jan 5.
5
Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study.肾病性胱氨酸病中的畏光与角膜晶体密度：一项共聚焦显微镜活体检查及眼前节光学相干断层扫描研究
Invest Ophthalmol Vis Sci. 2015 May;56(5):3218-25. doi: 10.1167/iovs.15-16499.
6
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.婴儿型肾病性胱氨酸病的眼部表现及组织病理学：一例报告并文献复习
Surv Ophthalmol. 2007 Jan-Feb;52(1):97-105. doi: 10.1016/j.survophthal.2006.10.006.
7
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.肾性胱氨酸病：眼部后段表现及半胱胺治疗的效果
Ophthalmology. 2006 Jun;113(6):1002-9. doi: 10.1016/j.ophtha.2005.12.026. Epub 2006 Apr 17.
8
Cystinosis.胱氨酸病
N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552.
9
Ocular changes in long-term evolution of infantile cystinosis.婴儿胱氨酸病长期演变中的眼部变化
Ophthalmic Paediatr Genet. 1987 Jun;8(2):131-7. doi: 10.3109/13816818709028529.