Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5.
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.
Brakemeier
S
S
Department of Nephrology--Charité, Universitätsmedizin Berlin, Germany.
Si
H
H
Gollasch
M
M
Höffler
D
D
Buhl
M
M
Köhler
R
R
Hoyer
J
J
Eichler
I
I
D000328:Adult; D020029:Base Pairing / Q000235:genetics; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
C097503:CLC-5 chloride channel; D018118:Chloride Channels