• Clark M Henderson, Susan L Fink, Hanan Bassyouni, Bob Argiropoulos, Lindsay Brown, Thomas J Laha, Konner J Jackson, Raymond Lewkonia, Patrick Ferreira, Andrew N Hoofnagle, and Julien L Marcadier.
• 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.

AbstractA 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. (Funded by the National Institutes of Health and the University of Washington.).Copyright © 2019 Massachusetts Medical Society.

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