Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5 |
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Authors: | Brakemeier S Si H Gollasch M Höffler D Buhl M Köhler R Hoyer J Eichler I |
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Affiliation: | Department of Nephrology--Charité, Universit?tsmedizin Berlin, Germany. |
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Abstract: | 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. |
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