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Bone, Growth Plate and Mineral Metabolism
Division of Pediatric Endocrinology and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; University Hospital, Stockholm, Sweden.
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Department of Pediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Örebro University, School of Medical Sciences. Division of Pediatric Endocrinology and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; University Hospital, Stockholm, Sweden.ORCID iD: 0000-0002-9986-8138
2021 (English)In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 94, no Suppl. 1, p. 22-22Article in journal, Meeting abstract (Other academic) Published
Abstract [en]

The skeletal research field develops rapidly and has produced several exciting findings in the last year and includes advances in the treatment of rare skeletal disorders and an ever deeper under-standing into the fundamental molecular mechanisms that control skeletal development, metabolism, growth, and mineralization.

The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly antagonize the overactivity of the FGFR3 pathway in achondroplasia continues to be a subject of high inter-est and excitement and in the 2021 yearbook we highlight the dou-ble-blind, randomized placebo-controlled phase 3 study of a CNP analogue (vosoritide) in children with achondroplasia. We also highlight the identification of a novel gene for autosomal domi-nant hypophosphatemic rickets, publication of new growth charts for X-linked hypophosphatemia and two large well-designed pae-diatric vitamin D trials for the prevention of tuberculosis and asthma exacerbation, respectively.

Translational highlights include review on the recent advances of mineral metabolism and biomineralization, in vivo data sug-gesting that modification of the synovial microenvironment may allow endogenous skeletal stem cells to form hyalin cartilage and thereby heal articular cartilage injuries, as well as a study using gene targeting in zebra fish to reveal the pathogenic mechanism by which mutations in CRTAP and P3H1 causes osteogenesis imper-fecta type VII and VIII, respectively.

Advances in the understanding of skeletal biology a study by McDonald et al. that challenges the current dogma on the origin and fate of osteoclasts as they show evidence that multinucleated osteoclasts can fission into daughter cells, a.k.a. osteomorphs, that subsequently are recycled into bone resorbing osteoclasts via a RANKL-dependent process. Additional articles in this section directly and indirectly highlight the critical role of loading and mechanical stress on the growing skeleton. Several of these excit-ing findings will be highlighted in the presentation.

Place, publisher, year, edition, pages
S. Karger, 2021. Vol. 94, no Suppl. 1, p. 22-22
National Category
Pediatrics Endocrinology and Diabetes
Identifiers
URN: urn:nbn:se:oru:diva-94930ISI: 000696302600049OAI: oai:DiVA.org:oru-94930DiVA, id: diva2:1602623
Conference
59th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2021 Online), September 22-26, 2021
Available from: 2021-10-13 Created: 2021-10-13 Last updated: 2021-10-13Bibliographically approved

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