From the Departments of Laboratory Medicine (C.M.H., S.L.F., T.J.L., K.J.J., A.N.H.) and Medicine (A.N.H.) and the Kidney Research Institute (A.N.H.), University of Washington, Seattle; and the Department of Endocrinology and Metabolism (H.B.) and the Alberta Children's Hospital Research Institute (B.A.), University of Calgary, and the Division of Medical Genetics, Alberta Children's Hospital (R.L., P.F., J.L.M.), Calgary, and the Department of Pathology, Children's & Women's Health Centre of British Columbia, Vancouver (L.B.) - all in Canada.
N Engl J Med. 2019 Mar 21;380(12):1150-1157. doi: 10.1056/NEJMoa1807841.
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 () 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. (Funded by the National Institutes of Health and the University of Washington.).
一位 58 岁的女性，患有严重的致残性强直性脊柱炎，其父母为近亲结婚，她被发现存在明显的严重维生素 D 缺乏，且对补充治疗无反应。液相色谱-串联质谱法显示循环中无维生素 D 结合蛋白，染色体微阵列证实了编码该蛋白的特异性成分（Gc）基因的纯合缺失。先天性维生素 D 结合蛋白缺乏导致血钙正常和骨代谢相对轻度紊乱，但在此例中伴有严重的自身免疫性疾病。（由美国国立卫生研究院和华盛顿大学资助）。
