Oncogenic osteomalacia is an orphan disease caused by the overproduction of fibroblast growth factor 23 (FGF23) in tumors, which leads to impaired bone matrix mineralization. Typical laboratory changes are hypophosphatemia, increased alkaline phosphatase, hyperphosphaturia, and decreased tubular phosphate reabsorption index. Surgery is the treatment of choice to eliminate an excessive production of FGF23. If surgical intervention is ineffective or impossible, preparations of phosphorus, calcium, vitamin D are prescribed. We present a clinical case of the stage-bystage diagnosis and treatment of the patient with chronic pain syndrome in the bones and multiple fractures.
Neurofibromatosis type 1 is a hereditary disease that has a multisystem character of organism damage, a wide variability of clinical manifestations, up to the almost complete absence of typical symptoms. Phenotypic manifestations, their expressiveness and heaviness can be varied even among members of the same family with identical mutations. One of the possible clinical manifestations of this pathology is pheochromocytoma, the development of which is associated with a high risk of developing life-threatening conditions. Timely diagnosis of the disease, the choice of treatment tactics for the patient, genetic testing of blood relatives can significantly improve the survival rate and prognosis of the disease. In this article, on the presented clinical examples of patients with a typical and atypical course of type 1 neurofibromatosis in combination with pheochromocytoma, the issues of managing patients with this pathology are outlined.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.