3. Introduction
Inherited kidney stone disease
Diseases are
I. Dent’s disease
II. X-linked recessive nephrolithiasis
III. X-linked recessive hypophosphataemic rickets
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4. Characteristics of gene product
CLCN-5
Encodes for putative renal chloride channel proteins
Functions are
I. Control membrane excitability
II. Transepithelial transport
III. Regulation cell volume
Mutation in this gene cause abnormalities
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11. Conclusion
Molecular genetic studies of CLCN5 demonstrated that
mutations, which resulted in a functional loss, were
associated with Dent's disease, XRN and X-linked
recessive hypophosphatemic rickets (XLRH). Thus,
hereditary disorders of nephrolithiasis are due to
mutations of the novel chloride channel, CLCN5.
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12. Reference
Lloyd, S. E., Pearce, S. H., Fisher, S. E., & Steinmeyer, K.
(1996). A common molecular basis for three inherited
kidney stone diseases. Nature, 379(6564), 445.
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