A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY
https://doi.org/10.14341/osteo2015336-39
Abstract
Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders.
References
1. Клинические рекомендации. Дефицит витамина D у взрослых: диагностика, лечение и профилактика. 2015 г. / ОО «Российская ассоциация эндокринологов» - Режим доступа: http://www. endocrincentr.ru/images/material-images/Rek_Vit%20D_2015.pdf(дата обращения: 27.03.2016).
2. Williams textbook of endocrinology.-12th ed. / Shlomo Melmed.. [et al.].
3. Looker AC, Dawson-Hughes B, Calvo MS, Gunter EW, Sahyoun NR. Serum 25-hydroxyvitamin D status of adolescents and adults in two seasonal subpopulations from NHANES III. Bone 2002; 30:771-7.
4. Matsuoka LY, Wortsman J, Chen TC, Holick MF. Compensation for the interracial variance in the cutaneous synthesis of vitamin D. J Lab Clin Med 1995; 126:452-7.
5. Harris SS, Soteriades E, Coolidge JA, Mudgal S, Dawson-Hughes B. Vitamin D insufficiency and hyperparathyroidism in a low income, multiracial, elderly population. J Clin Endocrinol Metab 2000; 85:4125- 30.
6. Brazerol WF, McPhee AJ, Mimouni F, Specker BL, Tsang RC. Serial ultraviolet B exposure and serum 25 hydroxyvitamin D response in young adult American blacks and whites: no racial differences. J Am Coll Nutr 1988; 7:111- 8.
7. Dastani Z, Li R, Richards B. Genetic regulation of vitamin D levels. Calcif Tissue Int. 2013 Feb; 92(2):106-17. doi: 10.1007/ s00223-012-9660-z.
8. Barry EL, Rees JR, Peacock JL et al. Genetic variants in CYP2R1, CYP24A1, and VDR modify the efficacy of vitamin D3 supplementation for increasing serum 25-hydroxyvitamin D levels in a randomized controlled trial. J Clin Endocrinol Metab. 2014 Oct; 99(10):E2133-7. doi: 10.1210/jc.2014-1389.
9. Levine MA, Dang A, Ding C, Fischer PR, Singh R, Thacher T 2007 Tropical rickets in Nigeria: Mutation of the CYP2R1 gene encoding vitamin D 25-hydroxylase as a cause of vitamin D dependent rickets. Bone 40:S60 -S61
10. Casella SJ, Reiner BJ, Chen TC, Holick MF, Harrison HE. A possible genetic defect in 25-hydroxylation as a cause of rickets. J Pediatr 1994; 124:929-32.
11. Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. PNAS 2004 May; 101(20):7711-7715.
12. Al Mutair AN, Nasrat GH, Russell DW. Mutation of the CYP2R1 Vitamin D 25hydroxylase in a Saudi Arabian Family with Severe Vitamin D Deficiency. J Clin Endocrinol Metab 2012 Oct; 97(10):E2022-E2025.
Review
For citations:
Pigarova E.A., Abdulvapova Z.N., Petrushkina A.A., Rozhinskaya L.Ya. A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY. Osteoporosis and Bone Diseases. 2015;18(3):36-39. (In Russ.) https://doi.org/10.14341/osteo2015336-39
Views:
2125
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).
Email this article 
