التفاصيل البيبلوغرافية
| العنوان: |
Unmeasurable low vitamin D levels caused by a novel, homozygote loss-of-function variant in the group-specific component gene. |
| المؤلفون: |
Nygaard, Rie Harboe1 (AUTHOR), Lauritzen, Esben Stistrup2,3 (AUTHOR) esbelaur@rm.dk, Sikjær, Tanja2,3 (AUTHOR), Højskov, Carsten Schriver1 (AUTHOR), Rejnmark, Lars2 (AUTHOR), Møller, Holger Jon1,4 (AUTHOR) |
| المصدر: |
European Journal of Endocrinology. Jun2024, Vol. 190 Issue 6, pK53-K56. 4p. |
| مصطلحات موضوعية: |
*VITAMIN D, *NUCLEOTIDE sequencing, *DIETARY supplements, *WESTERN immunoblotting, *CONSANGUINITY, *HYPOKINESIA, *OSTEOMALACIA |
| مستخلص: |
A 29-year-old female, born to consanguineous parents, was found with unmeasurable levels of vitamin D (<10 nmol/L) after routine biochemical screening during her first pregnancy. She did not respond to either oral or intramuscular vitamin D supplementation and was an otherwise healthy young woman, with no signs of rickets, osteomalacia, osteoporosis, or secondary hyperparathyroidism. Western blot analysis revealed total lack of vitamin D binding protein, and next generation sequencing confirmed a novel, pathogenic homozygote loss-of-function mutation in exon 13 of the group-specific component gene , that encodes the poly A tail for vitamin D binding protein. She was therefore diagnosed with hereditary DBP deficiency, and vitamin D supplementation was diminished to life-long regular vitamin D supplementation (25 μg per day). This case is extremely interesting, as it expands our knowledge of vitamin D physiology and supports the free hormone hypothesis, given that the patient was asymptomatic despite no measurable levels of vitamin D. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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