Ducki Czesław, Wojtkiewicz Marta, Bartoszewicz Marcin, Fiedor Piotr
Mazovian Specialized Health Center in Pruszków, Partyzantów 2/4, 05-802 Pruszków, Poland.
University of Economics and Human Sciences in Warsaw, Okopowa 59, 01-043 Warsaw, Poland.
Biomedicines. 2025 Feb 22;13(3):558. doi: 10.3390/biomedicines13030558.
Patients suffering from rare diseases are particularly vulnerable to vitamin D deficiency. The role of vitamin D status in rare disease management remains insufficiently investigated and employed in routine clinical practice. This review analyses current data on vitamin D status in selected rare diseases of organs involved in vitamin D metabolism: skin (epidermolysis bullosa, morphea), liver (autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis), kidney (Alport syndrome, Fabry disease), and cystic fibrosis as a model of a systemic rare disease. Additionally, this review critically examines potential drug-vitamin D interactions in the context of rare disease patient polypharmacy. Evidence suggests that vitamin D deficiency is prevalent in rare disease patient populations, often at once exacerbating and being simultaneously exacerbated by the underlying condition. Vitamin D deficiency correlates with worse clinical outcomes and lower quality of life across the examined diseases. Immunoregulatory properties of vitamin D appear relevant for rare diseases with autoimmune components. An urgent need for developing disease-specific clinical practice guidelines, implementing routine vitamin D monitoring in rare disease patient care, and introducing tailored supplementation under the principles of precision medicine is emphasized.
患有罕见病的患者特别容易缺乏维生素D。维生素D状态在罕见病管理中的作用在常规临床实践中仍未得到充分研究和应用。本综述分析了参与维生素D代谢的特定罕见病器官中维生素D状态的现有数据：皮肤（大疱性表皮松解症、硬斑病）、肝脏（自身免疫性肝炎、原发性胆汁性胆管炎、原发性硬化性胆管炎）、肾脏（阿尔波特综合征、法布里病），以及作为系统性罕见病模型的囊性纤维化。此外，本综述还批判性地研究了在罕见病患者联合用药情况下潜在的药物 - 维生素D相互作用。有证据表明，维生素D缺乏在罕见病患者群体中普遍存在，往往会同时加剧潜在疾病并被其加剧。在所有研究的疾病中，维生素D缺乏与更差的临床结局和更低的生活质量相关。维生素D的免疫调节特性似乎与具有自身免疫成分的罕见病相关。强调迫切需要制定针对特定疾病的临床实践指南，在罕见病患者护理中实施常规维生素D监测，并在精准医学原则下引入个性化补充治疗。
