Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene

被引：42

作者：

Henderson, Clark M. ^{[1
]}

Fink, Susan L. ^{[1
]}

Bassyouni, Hanan ^{[4
]}

Argiropoulos, Bob ^{[5
]}

Brown, Lindsay ^{[7
]}

Laha, Thomas J. ^{[1
]}

Jackson, Konner J. ^{[1
]}

Lewkonia, Raymond ^{[6
]}

Ferreira, Patrick ^{[6
]}

Hoofnagle, Andrew N. ^{[1
,2
,3
]}

Marcadier, Julien L. ^{[6
]}

机构：

[1] Univ Washington, Dept Lab Med, Seattle, WA 98195 USA

[2] Univ Washington, Dept Med, Seattle, WA USA

[3] Univ Washington, Kidney Res Inst, Seattle, WA 98195 USA

[4] Univ Calgary, Dept Endocrinol & Metab, Calgary, AB, Canada

[5] Univ Calgary, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada

[6] Alberta Childrens Prov Gen Hosp, Div Med Genet, 28 Oki Dr, Calgary, AB T3B 6A8, Canada

[7] Childrens & Womens Hlth Ctr British Columbia, Dept Pathol, Vancouver, BC, Canada

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2019年 / 380卷 / 12期

基金：

美国国家卫生研究院;

关键词：

D METABOLITES; SERUM; AFFINITY;

D O I：

10.1056/NEJMoa1807841

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 58-year-old woman with debilitating ankylosing spondylitis who was born to consanguineous parents was found to have an apparent severe vitamin D deficiency that did not respond to supplementation. Liquid chromatography-tandem mass spectrometry showed the absence of circulating vitamin D-binding protein, and chromosomal microarray confirmed a homozygous deletion of the group-specific component (GC) gene that encodes the protein. Congenital absence of vitamin D-binding protein resulted in normocalcemia and a relatively mild disruption of bone metabolism, in this case complicated by severe autoimmune disease.

引用

页码：1150 / 1157

页数：8

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