دورية أكاديمية
Challenging diagnosis of a rare disease: hypophosphatemic osteomalacia – case report and literature review
العنوان: | Challenging diagnosis of a rare disease: hypophosphatemic osteomalacia – case report and literature review |
---|---|
المؤلفون: | Agnieszka Nowak, Alicja Partyka, Magdalena Pach, Justyna Dobrzańska, Mariola Dziedzic, Aneta Michalczewska, Agnieszka Fugas, Natalia Wierzejska, Zuzanna Chmielowiec, Karolina Smykiewicz |
المصدر: | Journal of Education, Health and Sport, Vol 72 (2024) |
بيانات النشر: | Kazimierz Wielki University, 2024. |
سنة النشر: | 2024 |
المجموعة: | LCC:Education LCC:Sports LCC:Medicine |
مصطلحات موضوعية: | osteomalacia, tumor-induced osteomalacia, hypophosphatemia, fibroblast growth factor-23, vitamin D, calcium-phosphate management, Education, Sports, GV557-1198.995, Medicine |
الوصف: | Hypophosphatemic osteomalacia is a rare condition caused by different causes, all resulting in disturbances of calcium-phosphate management. One of the most common causes among adults is tumor-induced osteomalacia, which is characterized by increased secretion of fibroblast growth factor-23. Its symptoms are vague, tests necessary for diagnosis are not commonly used by clinicians and some of them are only available in highly specialized centers. Due to these reasons, patients often are misdiagnosed for more common conditions and are left without proper treatment for many years. We present a case of a patient suffering from multiple fractures, diffuse bone pain, and muscle weakness, who was previously misdiagnosed for osteoporosis, primary and secondary hyperparathyroidism. We discuss the pathophysiology of tumor-induced osteomalacia, diagnostic path, differential diagnosis, available forms of treatment and possible complications. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English Spanish; Castilian Polish Russian Ukrainian |
تدمد: | 2391-8306 |
Relation: | https://apcz.umk.pl/JEHS/article/view/51116; https://doaj.org/toc/2391-8306 |
DOI: | 10.12775/JEHS.2024.72.51116 |
URL الوصول: | https://doaj.org/article/cb8c01cbd2b2436aa329b69acf622e8c |
رقم الأكسشن: | edsdoj.b8c01cbd2b2436aa329b69acf622e8c |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 23918306 |
---|---|
DOI: | 10.12775/JEHS.2024.72.51116 |