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一个韩国家族四代人中由精氨酸加压素 II 基因突变引起的常染色体显性遗传性垂体性尿崩症。

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.

作者信息

Kim Myo-Jing, Kim Young-Eun, Ki Chang-Seok, Yoo Jae-Ho

机构信息

Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2014 Dec;19(4):220-4. doi: 10.6065/apem.2014.19.4.220. Epub 2014 Dec 31.

DOI:10.6065/apem.2014.19.4.220
PMID:25654069
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4316416/
Abstract

Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T). This is the first report of such a case in Korea.

摘要

常染色体显性遗传性神经垂体性尿崩症是一种罕见的中枢性尿崩症，由抗利尿激素-神经垂体素II（AVP-NPII）基因突变引起。其特征为精氨酸加压素（AVP）分泌不足或缺乏导致持续性烦渴和多尿。本文报告了一个韩国家族四代人中的家族性神经垂体性尿崩症病例，该病例由AVP-NPII基因第2外显子的杂合错义突变（c.286G>T）所致。这是韩国首例此类病例报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b23a/4316416/d4101e8e86cc/apem-19-220-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b23a/4316416/4ece755a1ecd/apem-19-220-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b23a/4316416/b1aeb260194f/apem-19-220-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b23a/4316416/d4101e8e86cc/apem-19-220-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b23a/4316416/4ece755a1ecd/apem-19-220-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b23a/4316416/b1aeb260194f/apem-19-220-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b23a/4316416/d4101e8e86cc/apem-19-220-g003.jpg

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本文引用的文献

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Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene.家族性神经垂体性尿崩症归因于精氨酸血管加压素-神经垂体素 II 基因的一种新突变。
Eur J Endocrinol. 2011 Jul;165(1):161-5. doi: 10.1530/EJE-11-0048. Epub 2011 Apr 15.
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Autosomal dominant neurohypophyseal diabetes insipidus in two families. Molecular analysis of the vasopressin-neurophysin II gene and functional studies of three missense mutations.
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Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus.在一个患有垂体性尿崩症的家族中，抗利尿激素 - 神经垂体素II（AVP - NPII）基因的Glu78突变损害了神经垂体素作为精氨酸加压素载体蛋白的功能。
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