TRPV4基因相关疾病的遗传学诊断与管理

doi:10.12372/jcp.2023.22e1621

摘要/Abstract

摘要：

TRPV4基因相关疾病是一类具有相同致病基因但表型高度异质的疾病。根据其症状可分为两组不同的疾病：神经肌肉病和骨骼发育不良。在分子病因明确之前，TRPV4基因相关疾病常被临床归类为多个相互独立的疾病。因此，基因检测对TRPV4基因相关疾病的诊断和管理具有重要意义。文章介绍了TRPV4基因特点、相关疾病的种类和特征、遗传学检测、基因型-表型关联性以及诊断后的管理，为TRPV4基因相关疾病的诊断和治疗提供思路。

Abstract:

TRPV4 disorders are a group of disorders with the same disease-causing gene but highly heterogeneous phenotypes. TRPV4 disorders can be divided into two different subgroups: neuromuscular disorders and skeletal dysplasia. TRPV4 disorders were clinically classified as multiple independent disorders before their molecular basis was discovered. Therefore, genetic testing is of great significance for the diagnosis and management of TRPV4 disorders. This paper reviews the characteristics of TRPV4 and each disorder, genetic testing methods, genotype-phenotype correlation information and management after diagnosis, providing ideas for the diagnosis and treatment of TRPV4 disorders.

Key words: TRPV4 disorders, neuromuscular disorders, skeletal dysplasia, genetic diagnosis, genotype-phenotype correlation

胡旭昀, 郝婵娟. TRPV4基因相关疾病的遗传学诊断与管理[J]. 临床儿科杂志, 2023, 41(2): 86-91.

HU Xuyun, HAO Chanjuan. Genetic diagnosis and management of TRPV4 disorders[J]. Journal of Clinical Pediatrics, 2023, 41(2): 86-91.

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