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发育异常、畸形与畸形之间的区别——迈向髋关节发育障碍的正确诊断与治疗

Distinction Between Dysplasia, Malformation, and Deformity-Towards the Proper Diagnosis and Treatment of Hip Development Disorders.

作者信息

Dygut Jacek, Piwowar Monika

机构信息

Medicare Clinic, Brook House, Lime Tree Court, Cardiff Gate Business Park, Mulberry Dr, Cardiff CF23 8AB, UK.

Department of Bioinformatics and Telemedicine, Medical College, Jagiellonian University, 31-034 Kraków, Poland.

出版信息

Diagnostics (Basel). 2025 Jun 18;15(12):1547. doi: 10.3390/diagnostics15121547.

DOI:10.3390/diagnostics15121547
PMID:40564867
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12191916/
Abstract

(1) Background: This publication focuses on processes that disrupt the proper development of the hip. Four pathomechanisms underlying human developmental defects are described in the literature, i.e., dysplasia, malformation, disruption, and deformity. In the case of hip development, arguably the greatest challenge involves confusion between dysplasia and deformity, which often leads to misdiagnosis, incorrect nomenclature, and incorrectly chosen treatment. (2) Methods: A review of the scientific literature was performed. (3) Results: The paper presents a description of hip joint development disorders in the context of their pathomechanisms. An attempt was made to answer the question of whether these disorders are rooted in a primary disorder of tissue growth, resulting in incorrect anatomy, or are the result of anatomical deformations with secondary modifications in tissue structures-of a degenerative or adaptive nature-based on Delpech-Hueter-Volkmann growth and remodeling laws. In addition, the emphasis is placed on the presence of so-called clinically and diagnostically mute cases. We suggest augmenting diagnostic procedures with genetic tests to increase the sensitivity of screening. (4) Conclusions: Based on the arguments, a new division of developmental hip disorders is proposed.

摘要

(1) 背景:本出版物聚焦于干扰髋关节正常发育的过程。文献中描述了人类发育缺陷的四种病理机制,即发育异常、畸形、中断和畸形。就髋关节发育而言,最大的挑战可能在于发育异常和畸形之间的混淆,这常常导致误诊、命名错误以及治疗选择不当。(2) 方法:对科学文献进行了综述。(3) 结果:本文在病理机制的背景下描述了髋关节发育障碍。试图回答这些障碍是源于组织生长的原发性障碍,导致解剖结构异常,还是基于德尔佩什 - 许特尔 - 福尔克曼生长和重塑定律,是具有退行性或适应性的组织结构继发性改变的解剖畸形的结果。此外,重点关注了所谓临床和诊断上无明显症状的病例。我们建议通过基因检测增强诊断程序,以提高筛查的敏感性。(4) 结论:基于这些论据提出了发育性髋关节疾病的新分类。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/e9a4c031579c/diagnostics-15-01547-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/0fff0f6da888/diagnostics-15-01547-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/262b6e680e66/diagnostics-15-01547-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/fd11aae40e6b/diagnostics-15-01547-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/e9a4c031579c/diagnostics-15-01547-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/0fff0f6da888/diagnostics-15-01547-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/262b6e680e66/diagnostics-15-01547-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/fd11aae40e6b/diagnostics-15-01547-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd42/12191916/e9a4c031579c/diagnostics-15-01547-g004.jpg

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J Orthop Surg Res. 2023 Jun 24;18(1):452. doi: 10.1186/s13018-023-03932-0.
3
Genome-Wide Association Study and Transcriptome of Japanese Patients with Developmental Dysplasia of the Hip Demonstrates an Association with the Ferroptosis Signaling Pathway.
全基因组关联研究和日本发育性髋关节发育不良患者的转录组研究表明与铁死亡信号通路相关。
Int J Mol Sci. 2023 Mar 6;24(5):5019. doi: 10.3390/ijms24055019.
4
Secondary (Late) Developmental Dysplasia of the Hip with Displacement: From Case Studies to a Proposition for a Modified Diagnostic Path.继发性(晚期)发育性髋关节发育不良伴脱位:从病例研究到改良诊断路径的提议
Diagnostics (Basel). 2022 Jun 15;12(6):1472. doi: 10.3390/diagnostics12061472.
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Genetic Predisposition to Developmental Dysplasia of the Hip.髋关节发育不良的遗传易感性。
J Arthroplasty. 2020 Jan;35(1):291-300.e1. doi: 10.1016/j.arth.2019.08.031. Epub 2019 Aug 19.
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Biomed Res Int. 2019 Aug 4;2019:7213681. doi: 10.1155/2019/7213681. eCollection 2019.
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