Citation, DOI, disclosures and article data
Citation:
Iqbal S, Sharma R, Dent disease. Reference article, Radiopaedia.org (Accessed on 28 May 2023) https://doi.org/10.53347/rID-94874
Dent disease is a very rare inherited renal disorder that is characterized by proximal tubule dysfunction.
Dent disease is X-linked recessive and thus is seen predominantly in males. There are two types 1-4:
- type 1: caused by the CLCN5 gene mutation
- type 2: caused by the OCRL1 gene mutation, thus there is an association with Lowe syndrome
History and etymology
The condition is named after Charles Enrique Dent (1911-1976) who described the first case in 1964 6.
- 1. Jin Y, Huang L, Quan X, Mao J. Dent Disease: Classification, Heterogeneity and Diagnosis. World J Pediatr. 2021;17(1):52-7. doi:10.1007/s12519-020-00357-1 - Pubmed
- 2. Sakakibara N, Nagano C, Ishiko S et al. Comparison of Clinical and Genetic Characteristics Between Dent Disease 1 and Dent Disease 2. Pediatr Nephrol. 2020;35(12):2319-26. doi:10.1007/s00467-020-04701-5 - Pubmed
- 3. Dent Disease - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders).
- 4. Devuyst O & Thakker R. Dent's Disease. Orphanet J Rare Dis. 2010;5(1):28. doi:10.1186/1750-1172-5-28 - Pubmed
- 5. Drovandi S, Servetti M, Angeletti A et al. Atypical Presentation of Dent Disease in a Patient with Interstitial Xp11.22 Deletion. J Nephrol. 2021. doi:10.1007/s40620-020-00959-y - Pubmed
- 6. Dent C & Friedman M. Hypercalcuric Rickets Associated with Renal Tubular Damage. Arch Dis Child. 1964;39(205):240-9. doi:10.1136/adc.39.205.240 - Pubmed
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