porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo2015336-39porozendo-8922Research ArticleСтатьиArticlesСЛУЧАЙ ТЯЖЕЛОГО СЕМЕЙНОГО ДЕФИЦИТА ВИТАМИНА DA CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCYПИГАРОВАЕ АPigarovaE A

к.м.н., ведущий научный сотрудник отделения нейроэндокринологии и остеопатий

kpigarova@gmail.comАБДУЛЬВАПОВАЗ НAbdulvapovaZ N

аспирант

-ПЕТРУШКИНАА АPetrushkinaA A

студентка 6 курса

-РОЖИНСКАЯЛ ЯRozhinskayaL Ya

д.м.н., профессор главный научный сотрудник отделения нейроэндокринологии и остеопатий

-ФГБУ «Эндокринологический научный центр» Минздрава РоссииМосковский государственный университет имени М.В.Ломоносова201515122015183№3 (2015)3639Copyright © ПИГАРОВА Е.А., АБДУЛЬВАПОВА З.Н., ПЕТРУШКИНА А.А., РОЖИНСКАЯ Л.Я., 20152015ПИГАРОВА Е.А., АБДУЛЬВАПОВА З.Н., ПЕТРУШКИНА А.А., РОЖИНСКАЯ Л.Я.Pigarova E.A., Abdulvapova Z.N., Petrushkina A.A., Rozhinskaya L.Y.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/8922

Ряд заболеваний, связанных с развитием синдрома гипокальцемии, при различных патофизиологических причинах может протекать со сходными биохимическими нарушениями. В некоторых случаях единственным биохимическим параметром, позволяющим дифференцировать нозологические формы, является определение уровней метаболитов витамина D в крови, поэтому крайне важно своевременное проведение этих измерений. Также следует учитывать генетические аспекты метаболизма витамина D, особенно в случаях семейного характера проявлений, а также вклад социальных факторов в развитие дефицита витамина D. Мы описываем двух пациентов, брата и сестру, у которых симптомы персистирующего дефицита витамина D уводили диагностический поиск в сторону редких наследственных синдромов.

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.

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The authors declare that there are no conflicts of interest present.