2024 年成骨不全症和骨脆性综合征的双重命名法。

IF 3.3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM
Calcified Tissue International Pub Date : 2024-12-01 Epub Date: 2024-06-28 DOI:10.1007/s00223-024-01248-7
David Owen Sillence
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引用次数: 0

摘要

2023 年,经过与主要利益相关者的广泛磋商,国际骨骼发育不良协会(ISDS)的专家命名工作组发布了新的《骨骼遗传性疾病二级命名法》。共划定了与 552 个基因相关的约 770 个实体。从这些实体中,确定了 40 多个基因可导致不同形式的成骨不全症(OI)和骨脆性和/或家族性骨质疏松症。为了帮助临床医生和非专业人士,并为 OI 患者以及临床医生和科学家提供大量基质生物学和基因组学知识,我们推荐了一种双元分类法。本综述回顾并解释了 OI 从 1970 年简单的 Congenita 和 Tarda 亚分类到 I-IV 型 Sillence 分类的演变过程。近 30 年来,I 型胶原多肽的定性和定量缺陷一直被假定为 OI 遗传异质性的原因,直到 5 型 OI(一种非胶原性疾病)被确认。从那时起,基质生物学和基因组学的进步证实了胶原蛋白转录和翻译后机制以及钙化组织稳态和完整性机制的惊人复杂性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.

A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.

In 2023 following extensive consultation with key stakeholders, the expert Nosology Working Group of the International Skeletal Dysplasia Society (ISDS) published the new Dyadic Nosology for Genetic Disorders of the Skeleton. Some 770 entities were delineated associated with 552 genes. From these entities, over 40 genes resulting in distinct forms of Osteogenesis Imperfecta (OI) and Bone Fragility and/or Familial Osteoporosis were identified. To assist clinicians and lay stake holders and bring the considerable body of knowledge of the matrix biology and genomics to people with OI as well as to clinicians and scientists, a dyadic nosology has been recommended. This combines a genomic co-descriptor with a phenotypic naming based on the widely used Sillence nosology for the OI syndromes and the many other syndromes characterized in part by bone fragility.This review recapitulates and explains the evolution from the simple Congenita and Tarda subclassification of OI in the 1970 nosology, which was replaced by the Sillence types I-IV nosology which was again replaced in 2009 with 5 clinical groups, type 1 to 5. Qualitative and quantitative defects in type I collagen polypeptides were postulated to account for the genetic heterogeneity in OI for nearly 30 years, when OI type 5, a non-collagen disorder was recognized. Advances in matrix biology and genomics since that time have confirmed a surprising complexity both in transcriptional as well as post-translational mechanisms of collagens as well as in the many mechanisms of calcified tissue homeostasis and integrity.

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来源期刊
Calcified Tissue International
Calcified Tissue International 医学-内分泌学与代谢
CiteScore
8.00
自引率
2.40%
发文量
112
审稿时长
4-8 weeks
期刊介绍: Calcified Tissue International and Musculoskeletal Research publishes original research and reviews concerning the structure and function of bone, and other musculoskeletal tissues in living organisms and clinical studies of musculoskeletal disease. It includes studies of cell biology, molecular biology, intracellular signalling, and physiology, as well as research into the hormones, cytokines and other mediators that influence the musculoskeletal system. The journal also publishes clinical studies of relevance to bone disease, mineral metabolism, muscle function, and musculoskeletal interactions.
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