Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5
| Autor: | R Köhler, H Si, M Gollasch, Susanne Brakemeier, D Höffler, M Buhl, I Eichler, J. Hoyer |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Renal Tubular Transport Inborn Errors Diagnosis Differential Tubulopathy Chloride Channels Medicine Humans Hypercalciuria Base Pairing Sequence Deletion Dent's disease biology Base Sequence business.industry CLCN5 General Medicine medicine.disease Nephrology biology.protein Nephrocalcinosis Differential diagnosis business Rare disease Kidney disease |
| Zdroj: | Clinical nephrology. 62(5) |
| ISSN: | 0301-0430 |
| Popis: | Dent's disease is an inherited tubulopathy caused by a mutation in the CLCN5 chloride channel gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis or nephrocalcinosis, rickets and eventual-progressive renal failure. Onset of clinical symptoms show a great variability, making a diagnosis at an early stage of the disease often difficult. Given the variably clinical picture, genetic analysis can provide a reliable method to confirm the diagnosis. Here, we report on the case of a patient with progressive renal failure showing signs of a tubular lesion and symptoms of Dent's disease. Although this rare disease was suspected by means of the clinical features, it was genetic analysis that confirmed the diagnosis and revealed a novel mutation in the CLCN5 gene. |
| Databáze: | OpenAIRE |
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