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Tytuł:
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Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases.
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Autorzy:
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Laakso S; Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Stenbäckinkatu 9, Helsinki, Finland. .; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland. .; Folkhälsan Research Center, Helsinki, Finland. .
Xiaoyu T; Department of Orthopedics, Kuopio Musculoskeletal Research Unit, University of Eastern Finland, and, Kuopio University Hospital, Kuopio, Finland.
Blouin S; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria.
Keplinger P; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.
Välimäki VV; Department of Orthopedics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Kröger H; Department of Orthopedics, Kuopio Musculoskeletal Research Unit, University of Eastern Finland, and, Kuopio University Hospital, Kuopio, Finland.
Mäkitie O; Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Stenbäckinkatu 9, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Hartmann MA; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria.
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Źródło:
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Calcified tissue international [Calcif Tissue Int] 2023 Jun; Vol. 112 (6), pp. 675-682. Date of Electronic Publication: 2023 Mar 22.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Publication: New York Ny : Springer Verlag
Original Publication: Berlin, New York, Springer International.
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MeSH Terms:
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Bone Density*
Polyendocrinopathies, Autoimmune*/genetics
Adult ; Humans ; Male ; Child, Preschool ; Female ; Bone and Bones ; Cortical Bone ; Bone Matrix
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References:
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Contributed Indexing:
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Keywords: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; Autoimmune regulator; Bone histomorphometry; Quantitative backscattered electron imaging
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Entry Date(s):
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Date Created: 20230322 Date Completed: 20230522 Latest Revision: 20230620
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Update Code:
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20240105
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PubMed Central ID:
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PMC10198912
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DOI:
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10.1007/s00223-023-01077-0
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PMID:
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36944707
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Autoimmune polyendocrine syndrome type-1 (APS1) is characterized by autoimmune manifestations affecting different organs from early childhood on. Immunological abnormalities, the resulting endocrinopathies, and their treatments may compromise bone health. For the first time in APS1, we analyzed transiliac bone biopsy samples by bone histomorphometry and quantitative backscattered electron imaging in three adult patients (female P1, 38 years; male P2, 47 years; male P3, 25 years). All had biallelic mutations in the autoimmune regulator gene and in addition to endocrinopathies, also significant bone fragility. Histomorphometry showed bone volume in the lower normal range for P1 (BV/TV, - 0.98 SD) and P3 (- 1.34 SD), mainly due to reduced trabecular thickness (TbTh, - 3.63 and - 2.87 SD). In P1, osteoid surface was low (OS/BS, - 0.96 SD); active osteoblasts and double labeling were seen only on cortical bone. P3 showed a largely increased bone turnover rate (BFR/BV, + 4.53 SD) and increased mineralization lag time (Mlt, + 3.40 SD). Increased osteoid surface (OS/BS, + 2.03 and + 4.71 SD for P2 and P3) together with a large proportion of lowly mineralized bone area (Trab CaLow, + 2.22 and + 9.81 SD for P2 and P3) and focal mineralization defects were consistent with abnormal mineralization. In all patients, the density and area of osteocyte lacunae in cortical and trabecular bone were similar to healthy adults. The bone tissue characteristics were variable and included decreased trabecular thickness, increased amount of osteoid, and abnormal mineralization which are likely to contribute to bone fragility in patients with APS1.
(© 2023. The Author(s).)
