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患有胰岛素抵抗型糖尿病和中风的婴儿的贝拉尔迪内利-塞普综合征。

Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant.

作者信息

Indumathi C K, Lewin S, Ayyar Vageesh

机构信息

Departments of Pediatrics, St. John's Medical College Hospital, Bangalore, India.

出版信息

Indian J Endocrinol Metab. 2011 Jul;15(Suppl 1):S62-4. doi: 10.4103/2230-8210.83054.

DOI:10.4103/2230-8210.83054
PMID:21847459
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3152188/
Abstract

Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin resistance, and dyslipedemia since infancy, and onset of overt diabetes mellitus in adolescence. Here we report a 5-month-old infant with clinical and metabolic manifestations of Berardinelli Seip syndrome including overt diabetes mellitus and stroke, which are very rare at this age.

摘要

贝拉尔迪内利-塞普先天性脂肪营养不良（BSCL）是一种罕见的代谢紊乱疾病，其特征为自婴儿期起就出现严重的全身性脂肪营养不良、胰岛素抵抗和血脂异常，并在青春期出现明显的糖尿病。在此，我们报告一名5个月大的婴儿，其具有贝拉尔迪内利-塞普综合征的临床和代谢表现，包括明显的糖尿病和中风，而这些在这个年龄段非常罕见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1525/3152188/61224a82f3eb/IJEM-15-62-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1525/3152188/fc2694f5788f/IJEM-15-62-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1525/3152188/61224a82f3eb/IJEM-15-62-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1525/3152188/fc2694f5788f/IJEM-15-62-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1525/3152188/61224a82f3eb/IJEM-15-62-g002.jpg

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本文引用的文献

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Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.两名因BSCL2基因突变导致先天性全身脂肪营养不良的日本婴儿。
Pediatr Int. 2009 Dec;51(6):775-9. doi: 10.1111/j.1442-200X.2009.02863.x. Epub 2009 Mar 31.
2
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.一名患有纯合子E189X BSCL2突变的婴儿出现的贝拉尔迪内利-塞普先天性脂肪营养不良的严重心脏表型。
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先天性全身脂肪营养不良——对代谢功能障碍的新见解
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Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy.瘦素替代疗法对患有贝拉尔迪内利-塞普先天性脂肪营养不良的幼儿的代谢纠正作用
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Berardinelli-Seip congenital lipodystrophy.贝拉尔迪内利-塞普先天性脂肪营养不良
Indian Pediatr. 2006 May;43(5):440-5.
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Congenital generalized lipodystrophy in a 4 year old Chinese girl.一名4岁中国女童的先天性全身脂肪营养不良症
Indian Pediatr. 2005 Oct;42(10):1036-8.
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[Congenital generalized lipodystrophy].
J Pediatr (Rio J). 2004 Jul-Aug;80(4):333-6. doi: 10.2223/1209.
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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.
9
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.贝拉尔迪内利-塞普先天性脂肪营养不良的基因型-表型关系
J Med Genet. 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722.
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Congenital generalized lipodystrophy in a 4-month-old infant.
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