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Dent disease: classification, heterogeneity and diagnosis

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Abstract

Background

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.

Data sources

All relevant peer-reviewed original articles published thus far have been screened out from PubMed and have been referenced.

Results

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.

Conclusions

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.

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Funding

The study was supported by National Natural Foundation of China (81470939 & 81770710), Natural Science Foundation of Zhejiang Province (LH14H050002, LY15H050001, LQ18H050001), and Ai You Foundation.

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Authors and Affiliations

  1. 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

    Yan-Yan Jin, Li-Min Huang & Jian-Hua Mao

  2. Chigene (Beijing) Translational Medical Research Center Co. Ltd, E2 Biomedical Park, No. 88 Kechuang Sixth Ave, Yizhuang, Beijing, China

    Xiao-Fang Quan

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  1. Yan-Yan Jin
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  2. Li-Min Huang
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JYY wrote the initial draft. HLM revised the manuscript. QXF and MJH reviewed and revised the manuscript. All authors approved the final version.

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Correspondence to Jian-Hua Mao.

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Jin, YY., Huang, LM., Quan, XF. et al. Dent disease: classification, heterogeneity and diagnosis. World J Pediatr 17, 52–57 (2021). https://doi.org/10.1007/s12519-020-00357-1

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