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

被引：43

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

共 50 条

[41] Genetic correlates of vitamin D-binding protein and 25-hydroxyvitamin D in neonatal dried blood spots [J].

Albinana, Clara ;

Zhu, Zhihong ;

Borbye-Lorenzen, Nis ;

Boelt, Sanne Grundvad ;

Cohen, Arieh S. ;

Skogstrand, Kristin ;

Wray, Naomi R. ;

Revez, Joana A. ;

Prive, Florian ;

Petersen, Liselotte V. ;

Bulik, Cynthia M. ;

Plana-Ripoll, Oleguer ;

Musliner, Katherine L. ;

Agerbo, Esben ;

Borglum, Anders D. ;

Hougaard, David M. ;

Nordentoft, Merete ;

Werge, Thomas ;

Mortensen, Preben Bo ;

Vilhjalmsson, Bjarni J. ;

McGrath, John J. .

NATURE COMMUNICATIONS, 2023, 14 (01)

[42] Total and Free Circulating Vitamin D and Vitamin D-Binding Protein in Relation to Colorectal Cancer Risk in a Prospective Study of African Americans [J].

Andersen, Shaneda Warren ;

Shu, Xiao-Ou ;

Cai, Qiuyin ;

Khankari, Nikhil K. ;

Steinwandel, Mark D. ;

Jurutka, Peter W. ;

Blot, William J. ;

Zheng, Wei .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2017, 26 (08) :1242-1247

[43] Deconvoluting the Biological Roles of vitamin D-Binding Protein During Pregnancy: A Both Clinical and Theoretical Challenge [J].

Karras, Spyridon N. ;

Koufakis, Theocharis ;

Fakhoury, Hana ;

Kotsa, Kalliopi .

FRONTIERS IN ENDOCRINOLOGY, 2018, 9

[44] Urinary vitamin D-binding protein, a novel biomarker for lupus nephritis, predicts the development of proteinuric flare [J].

Go, D. J. ;

Lee, J. Y. ;

Kang, M. J. ;

Lee, E. Y. ;

Lee, E. B. ;

Yi, E. C. ;

Song, Y. W. .

LUPUS, 2018, 27 (10) :1600-1615

[45] Vitamin D-Binding Protein Clearance Ratio Is Significantly Associated with Glycemic Status and Diabetes Complications in a Predominantly Vitamin D-Deficient Population [J].

Abdella, Nabila A. ;

Mojiminiyi, Olusegun A. .

JOURNAL OF DIABETES RESEARCH, 2018, 2018

[46] Association of Circulating Vitamin D With Colorectal Cancer Depends on Vitamin D-Binding Protein Isoforms: A Pooled, Nested, Case-Control Study [J].

Gibbs, David Corley ;

Song, Mingyang ;

McCullough, Marjorie L. ;

Um, Caroline Y. ;

Bostick, Roberd M. ;

Wu, Kana ;

Flanders, W. Dana ;

Giovannucci, Edward ;

Jenab, Mazda ;

Brustad, Magritt ;

Tjonneland, Anne ;

Perez-Cornago, Aurora ;

Trichopoulou, Antonia ;

Tsilidis, Konstantinos K. ;

Hultdin, Johan ;

Gurrea, Aurelio Barricarte ;

Bueno-de-Mesquita, Bas ;

Mahamat-Saleh, Yahya ;

Kuehn, Tilman ;

Gunter, Marc J. ;

Weiderpass, Elisabete ;

Fedirko, Veronika .

JNCI CANCER SPECTRUM, 2020, 4 (01)

[47] Association of prediagnostic vitamin D status with mortality among colorectal cancer patients differs by common, inherited vitamin D-binding protein isoforms [J].

Gibbs, David Corley ;

Bostick, Roberd M. ;

McCullough, Marjorie L. ;

Um, Caroline Y. ;

Flanders, W. Dana ;

Jenab, Mazda ;

Weiderpass, Elisabete ;

Gylling, Bjorn ;

Gram, Inger T. ;

Heath, Alicia K. ;

Colorado-Yohar, Sandra ;

Dahm, Christina C. ;

Bueno-de-Mesquita, Bas ;

Perez-Cornago, Aurora ;

Trichopoulou, Antonia ;

Tumino, Rosario ;

Kuhn, Tilman ;

Fedirko, Veronika .

INTERNATIONAL JOURNAL OF CANCER, 2020, 147 (10) :2725-2734

[48] Association of vitamin D-binding protein and vitamin D3 with insulin and homeostatic model assessment (HOMA-IR) in overweight and obese females [J].

Setayesh, Leila ;

Casazza, Krista ;

Moradi, Nariman ;

Mehranfar, Sanaz ;

Yarizadeh, Habib ;

Amini, Abbas ;

Yekaninejad, Mir Saeed ;

Mirzaei, Khadijeh .

BMC RESEARCH NOTES, 2021, 14 (01)

[49] Vitamin D-binding protein is inversely associated with the incidence of gastrointestinal and ear infections in school-age children [J].

Palframan, K. M. ;

Robinson, S. L. ;

Mora-Plazas, M. ;

Marin, C. ;

Villamor, E. .

EPIDEMIOLOGY AND INFECTION, 2018, 146 (15) :1968-1974

[50] A monoclonal antibody sandwich ELISA for vitamin D-binding protein (VDBP) is unaffected by Gc-globulin phenotype peptides and actin and demonstrates reduced levels in sepsis and non-sepsis intensive care patients [J].

Hong, Katrina ;

Florkowski, Christopher M. ;

Doogue, Matthew P. ;

Elder, Peter A. ;

Lewis, John G. .

CLINICA CHIMICA ACTA, 2018, 484 :7-13

← 1 2 3 4 5 →