Department of Nephrology, National Clinical Research Center for Child Health, The Children's Hospital, Zhejiang University School of Medicine, #57 Zhugan Lane, Hangzhou, 310006, China.
Chigene (Beijing) Translational Medical Research Center Co. Ltd, E2 Biomedical Park, No. 88 Kechuang Sixth Ave, Yizhuang, Beijing, China.
World J Pediatr. 2021 Feb;17(1):52-57. doi: 10.1007/s12519-020-00357-1. Epub 2020 Apr 4.
Dent disease is a rare tubulopathy characterized by manifestations of proximal tubular dysfunction, which occurs almost exclusively in males. It mainly presents symptoms in early childhood and may progress to end-stage renal failure between the 3rd and 5th decades of human life. According to its various genetic basis and to clinical signs and symptoms, researchers define two forms of Dent disease (Dent diseases 1 and 2) and suggest that these forms are produced by mutations in the CLCN5 and OCRL genes, respectively. Dent diseases 1 and 2 account for 60% and 15% of all Dent disease cases, and their genetic cause is generally understood. However, the genetic cause of the remaining 25% of Dent disease cases remains unidentified.
All relevant peer-reviewed original articles published thus far have been screened out from PubMed and have been referenced.
Genetic testing has been used greatly to identify mutation types of CLCN5 and OCRL gene, and next-generation sequencing also has been used to identify an increasing number of unknown genotypes. Gene therapy may bring new hope to the treatment of Dent disease. The abuse of hormones and immunosuppressive agents for the treatment of Dent disease should be avoided to prevent unnecessary harm to children.
The current research progress in classification, genetic heterogeneity, diagnosis, and treatment of Dent disease reviewed in this paper enables doctors and researchers to better understand Dent disease and provides a basis for improved prevention and treatment.
Dent 病是一种罕见的管状病变，其特征为近端肾小管功能障碍的表现，几乎仅发生于男性。它主要在儿童早期出现症状，在人类生命的第 3 至 5 个十年之间可能进展至终末期肾衰竭。根据其不同的遗传基础以及临床症状和体征，研究人员定义了两种 Dent 病（Dent 病 1 和 2），并提示这两种形式分别由 CLCN5 和 OCRL 基因的突变引起。Dent 病 1 和 2 占所有 Dent 病病例的 60%和 15%，其遗传原因通常被理解。然而，其余 25%的 Dent 病病例的遗传原因仍未确定。
所有相关的已发表的同行评议的原始文章都已从 PubMed 筛选出来并被引用。
遗传测试已被广泛用于鉴定 CLCN5 和 OCRL 基因突变类型，下一代测序也已被用于鉴定越来越多的未知基因型。基因治疗可能为 Dent 病的治疗带来新的希望。为了防止对儿童造成不必要的伤害，应避免滥用激素和免疫抑制剂来治疗 Dent 病。
本文综述了 Dent 病的分类、遗传异质性、诊断和治疗方面的最新研究进展，使医生和研究人员能够更好地了解 Dent 病，并为改善预防和治疗提供了依据。
