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伴有高甘油三酯血症和未控制糖尿病的先天性全身脂肪营养不良（贝拉尔迪内利-塞普综合征）中的视网膜病变和葡萄膜炎

Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome).

作者信息

Rubaie Khaled A, Raef Hussein, Stone Donald U, Kozak Igor

机构信息

Vitreoretinal and Uveitis Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

Middle East Afr J Ophthalmol. 2020 Jan 29;26(4):250-252. doi: 10.4103/meajo.MEAJO_94_19. eCollection 2019 Oct-Dec.

DOI:10.4103/meajo.MEAJO_94_19
PMID:32153340
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7034154/
Abstract

Congenital lipodystrophy syndromes are characterized by a paucity of adipose tissue and are associated with metabolic abnormalities including insulin resistance, diabetes mellitus, and severe hypertriglyceridemia. Herein, we present a case of proliferative diabetic retinopathy with an attack of anterior uveitis in a young female with congenital generalized lipodystrophy - Berardinelli-Seip syndrome. To the best of our knowledge, this is the first description of ocular involvement in Berardinelli-Seip syndrome.

摘要

先天性脂肪营养不良综合征的特征是脂肪组织缺乏，并伴有包括胰岛素抵抗、糖尿病和严重高甘油三酯血症在内的代谢异常。在此，我们报告一例患有先天性全身性脂肪营养不良——贝拉尔迪内利-塞普综合征的年轻女性发生增殖性糖尿病视网膜病变并伴有前葡萄膜炎发作的病例。据我们所知，这是首次描述贝拉尔迪内利-塞普综合征的眼部受累情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9838/7034154/c9e5dc97aa0e/MEAJO-26-250-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9838/7034154/504746020f33/MEAJO-26-250-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9838/7034154/c9e5dc97aa0e/MEAJO-26-250-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9838/7034154/504746020f33/MEAJO-26-250-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9838/7034154/c9e5dc97aa0e/MEAJO-26-250-g002.jpg

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本文引用的文献

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Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.沙特一个近亲结婚家庭中，PTRF基因的新型无义突变是先天性全身脂肪营养不良的病因。
Eur J Med Genet. 2015 Apr;58(4):216-21. doi: 10.1016/j.ejmg.2015.02.002. Epub 2015 Feb 23.
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Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory response.致病性 seipin 突变体抑制脂肪生成与炎症反应有关。
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Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
临床综述#：脂肪营养不良症：遗传性和获得性体脂肪障碍。
J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25. doi: 10.1210/jc.2011-1159. Epub 2011 Aug 24.
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Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis.甘油磷酸酰基转移酶（GPAT）、1-酰基甘油-3-磷酸酰基转移酶（AGPAT）和脂素酶在甘油三酯合成中的生物化学、生理学及遗传学
Am J Physiol Endocrinol Metab. 2009 Jun;296(6):E1195-209. doi: 10.1152/ajpendo.90958.2008. Epub 2009 Mar 31.
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Acquired and inherited lipodystrophies.获得性和遗传性脂肪营养不良。
N Engl J Med. 2004 Mar 18;350(12):1220-34. doi: 10.1056/NEJMra025261.
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Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?脂肪营养不良和巨人症伴相关内分泌表现。一种新的间脑综合征？
Acta Paediatr (Stockh). 1959 Nov;48:555-74.
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An undiagnosed endocrinometabolic syndrome: report of 2 cases.一种未确诊的内分泌代谢综合征：2例报告。
J Clin Endocrinol Metab. 1954 Feb;14(2):193-204. doi: 10.1210/jcem-14-2-193.