1.
N Engl J Med
; 380(26): 2586-2587, 2019 06 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31242376
2.
N Engl J Med
; 380(12): 1150-1157, 2019 03 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30893535
RESUMO
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. (Funded by the National Institutes of Health and the University of Washington.).