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Published on: March 29, 2018
Dent's disease: clinical features and molecular basis
Félix Claverie-Martín1, Elena Ramos-Trujillo, Víctor García-Nieto
1Unidad de Investigación, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain. fclamar@gobiernodecanarias.org
Pediatric Nephrology (Berlin, Germany)
|October 12, 2010
Summary
Dent's disease is a kidney disorder causing protein in the urine and progressive kidney failure. Mutations in CLCN5 or OCRL1 genes disrupt protein reabsorption in the kidney tubules.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Dent's disease is an X-linked recessive renal tubulopathy.
- Characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure.
- Associated with mutations in CLCN5 or OCRL1 genes, impacting proximal tubule function.
Purpose of the Study:
- To provide an overview of Dent's disease phenotypic characteristics.
- To summarize molecular data enhancing understanding of disease mechanisms.
- To review the role of ClC-5 and OCRL1 in proximal tubule protein reabsorption.
Main Methods:
- Literature review of Dent's disease.
- Analysis of phenotypic variability.
- Summary of genetic mutations and their functional consequences.
Main Results:
- Low-molecular-weight proteinuria (LMWP) is the most consistent feature.
- Clinical manifestations exhibit significant variability.
- Mutations in CLCN5 (encoding ClC-5) account for two-thirds of cases; OCRL1 mutations are less common.
- Both ClC-5 and OCRL1 are crucial for the endocytic reabsorption of LMW proteins in proximal tubules.
Conclusions:
- Dent's disease results from impaired endocytic reabsorption in proximal tubules.
- Understanding the molecular basis of Dent's disease is crucial for diagnosis and potential therapies.
- Further research into ClC-5 and OCRL1 function can elucidate mechanisms of renal tubulopathies.
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