Pathology
Bartter's syndrome, which is associated with renal salt wasting and hypokalemic alkalosis, is due to the defective transport of chloride ions and associated ions in the thick ascending loop of Henle. CLCNKB has been implicated.
Another inherited disease that affects the kidney organs is Dent's Disease, characterised by low molecular weight proteinuria and hypercalciuria where mutations in CLCN5 are implicated.
Thomsen disease is associated with dominant mutations and Becker disease with recessive mutations in CLCN1.
Cystic fibrosis is caused by a mutation in the DF508 region of the CFTR gene, which prevents the proper folding of the protein and subsequent degradation, resulting in decreased numbers of chloride channels in the body. This causes the build up of mucus in the body and chronic infections.
Read more about this topic: Chloride Channel
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