Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization.

Autor: Vai S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Falchetti A; Endocrinology Unit, Niguarda Hospital, Milan, Italy., Corbetta S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy., Bianchi ML; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Alberio C; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Carrara S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy., Gasperini S; Rare Metabolic Diseases Unit, Paediatrics Clinic, IRCCS Foundation San Gerardo Dei Tintori, Monza, Italy., Pretese R; Rare Metabolic Diseases Unit, Paediatrics Clinic, IRCCS Foundation San Gerardo Dei Tintori, Monza, Italy., Parisi L; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy., Teti A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy. annamaria.teti@univaq.it., Maurizi A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy.
Jazyk: angličtina
Zdroj: Calcified tissue international [Calcif Tissue Int] 2024 Nov; Vol. 115 (5), pp. 661-672. Date of Electronic Publication: 2024 Oct 25.
DOI: 10.1007/s00223-024-01302-4
Abstrakt: Glycogen storage disease (GSD) is the most prevalent inherited disorder of glycogen metabolism for which no causal treatment is available. In recent years, thanks to the improved clinical management, the life expectancy of these patients extended, disclosing previously unidentified adverse conditions in other organs. In this study, we evaluated the clinical bone complications and the cellular responses in 20 patients (aged 14.1 ± 3.4 years) affected by GSD type I. Fragility fractures were reported in 35% of the patients, which were older than unfractured patients. They involved appendicular skeletal segments, while no vertebral deformity was detected. 60% of the patients had a bone mineral density (BMD) "below the expected range for age", and lumbar spine (LS) BMD Z-scores positively correlated with muscle strength. Circulating mineral and bone markers showed reduction in the older subjects, with no increase in the pubertal age. Significant correlations could not be detected between circulating markers and LS BMD Z-scores, except for sclerostin levels, which also correlated with muscle strength. The osteoclasts differentiated from patients' peripheral blood mononuclear cells did not show cell-autonomous alterations. However, circulating osteoclast precursors from healthy individuals cultured in the presence of patients' sera exhibited increased osteoclastogenesis compared to control sera suggesting that GSD type I serum factors could affect osteoclast function in a non-autonomous manner. In contrast, circulating osteoprogenitors were unremarkable.
(© 2024. The Author(s).)
Databáze: MEDLINE
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