[Clinical features, diagnostics and treatment of FGF23 secreting tumors: series of 40 clinical cases].

Autor:	Gronskaia SA; Endocrinology Research Center., Belaya ZE; Endocrinology Research Center., Rozhinskaya LY; Endocrinology Research Center., Melnichenko GA; Endocrinology Research Center., Dubovitskaya TA; Endocrinology Research Center., Mamedova EO; Endocrinology Research Center., Rodionova SS; N.N. Priorov National Medical Research Center of Traumatology and Orthopaedics., Buklemishev YV; N.N. Priorov National Medical Research Center of Traumatology and Orthopaedics., Pigarova EA; Endocrinology Research Center., Degtyarev MV; Endocrinology Research Center., Babaeva DM; Endocrinology Research Center., Vladimirova VP; Endocrinology Research Center., Tarbaeva NV; Endocrinology Research Center., Serzhenko SS; Endocrinology Research Center., Grigoriev AY; Endocrinology Research Center., Dzeranova LK; Endocrinology Research Center., Karpenko VY; N.N. Priorov National Medical Research Center of Traumatology and Orthopaedics., Karasev AL; N.N. Priorov National Medical Research Center of Traumatology and Orthopaedics., Fedotov RN; A.I. Yevdokimov Moscow State University of Medicine and Dentistry., Uliyanova IN; Endocrinology Research Center., Toroptsova NV; V.A. Nasonova Research Institute of Rheumatology., Lesnyak OM; North-Western State Medical University named after I.I. Mechnikov., Mokrysheva NG; Endocrinology Research Center., Dedov II; Endocrinology Research Center.
Jazyk:	ruština
Zdroj:	Problemy endokrinologii [Probl Endokrinol (Mosk)] 2023 Nov 10; Vol. 69 (5), pp. 25-38. Date of Electronic Publication: 2023 Nov 10.
DOI:	10.14341/probl13221
Abstrakt:	Introduction: Tumor-induced osteomalacia is an acquired rare disease manifested by hypophosphatemic osteomalacia due to excessive secretion of fibroblast growth factor 23 (FGF23). FGF 23 is a non-classical hormone secreted by bone tissue (osteocytes) and regulates phosphorus metabolism.The aim of this work is to present clinical experience in the diagnosis, treatment and rehabilitation of patients with tumor-induced osteomalacia. Materials and Methods: 40 patients with clinically-confirmed tumor-induced osteomalacia were included in the study, 34 of whom had the tumor localized, 27 underwent surgical treatment and 21 achieved stable remission. Results: The median age was 48 [41; 63] years, 43% were men, the time left from the the onset of the disease was 8 [4; 10] years. Biochemical findings were hypophosphatemia 0.47 [0.4; 0.53] mmol/l, a decrease in the tubular reabsorption phosphate 62 [52; 67]%, and an increase in alkaline phosphatase of 183 [112; 294] units/l. At the time of diagnosis, 100% had multiple pathological fractures, only 10% could move independently, and 77.5% classified the pain as unbearable (8-10 points according to the 10-point pain syndrome scale ). Among the methods used to detect tumors, the most sensitive were scintigraphy with tectrotide with SPECT/CT 71.4% (20/28) and MRI 90% (18/20). In 35% of cases, the tumor was localized in soft tissues and in 65% in bone tissue; The tumor was most often detected in the lower extremities, followed by the head in frequency of localization. 18 patients currently have no remission and they receive conservative treatment (phosphorus and alfacalcidol n=15 and burosumab n=3). In case of achieving remission (n=21), regression of clinical symptoms and restoration of bone and muscle mass was observed. Extensive excision of the tumor without prior biopsy resulted in the best percentage of remission - 87%. Conclusion: Tumor-induced osteomalacia is characterized by severe damage to bone and muscle tissue with the development of multiple fractures, muscle weakness and severe pain syndrome. In laboratory diagnostics, attention should be paid to hypophosphatemia, a decrease in the tubular reabsorption phosphate index and increased alkaline phosphatase. The use of functional diagnostic methods with a labeled somatostatin analogue to the subtype 2 receptor and MRI with contrast enhancement are the most accurate methods of topical diagnostics. In case of localization of the tumor, a wide excision without a preliminary biopsy is recommended.
Databáze:	MEDLINE
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