Yan-Yan Jin1, Li-Min Huang1, Xiao-Fang Quan2, Jian-Hua Mao3. 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. 2. Chigene (Beijing) Translational Medical Research Center Co. Ltd, E2 Biomedical Park, No. 88 Kechuang Sixth Ave, Yizhuang, Beijing, China. 3. 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. maojh88@zju.edu.cn.
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.
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.
Authors: Lada Beara-Lasic; Andrea Cogal; Kristin Mara; Felicity Enders; Ramila A Mehta; Zejfa Haskic; Susan L Furth; Howard Trachtman; Steven J Scheinman; Dawn S Milliner; David S Goldfarb; Peter C Harris; John C Lieske Journal: Pediatr Nephrol Date: 2019-03-10 Impact factor: 3.714
Authors: Ashish K Solanki; Ehtesham Arif; Thomas Morinelli; Robert C Wilson; Gary Hardiman; Peifeng Deng; John M Arthur; Juan Cq Velez; Deepak Nihalani; Michael G Janech; Milos N Budisavljevic Journal: Kidney Int Rep Date: 2018-06-18