Renal cystic diseases are complex and multifaceted disorders that can have genetic or nongenetic bases. The etiology of these disorders is not unique but may be associated with other systemic diseases, acquired or inherited. With significant progress in genetics, several mutated genes have been associated with renal cyst development. Different abnormal protein functions, causing different renal cystic diseases, imply that several molecular mechanisms may lead to the formation of cysts. Cysts can be generated from any tract of the nephron; they usually generate in the distal nephron and in the collecting ducts.1 Autosomal dominant polycystic kidney disease (ADPKD) is the most common cystic disorder, caused by mutations in the genes coding for polycystin-1 and polycystin-2. Renal cysts are also found in 50% of patients with tuberous sclerosis complex (TSC).2 Patients with TSC can develop several disturbances, affecting many organs. Neurologic symptoms are often described, although renal defects can be considered the second most common features in TSC-affected individuals. In this issue of The American Journal of Pathology, Barone et al3 proposed the electrogenic exchanger ClC5 as a possible candidate for mediating chloride secretion into the renal cyst lumen in TSC.
The Electrogenic Chloride Exchanger ClC5 as a Novel Player in Renal Cysts in Tuberous Sclerosis
Tamma, Grazia
Writing – Review & Editing
2023-01-01
Abstract
Renal cystic diseases are complex and multifaceted disorders that can have genetic or nongenetic bases. The etiology of these disorders is not unique but may be associated with other systemic diseases, acquired or inherited. With significant progress in genetics, several mutated genes have been associated with renal cyst development. Different abnormal protein functions, causing different renal cystic diseases, imply that several molecular mechanisms may lead to the formation of cysts. Cysts can be generated from any tract of the nephron; they usually generate in the distal nephron and in the collecting ducts.1 Autosomal dominant polycystic kidney disease (ADPKD) is the most common cystic disorder, caused by mutations in the genes coding for polycystin-1 and polycystin-2. Renal cysts are also found in 50% of patients with tuberous sclerosis complex (TSC).2 Patients with TSC can develop several disturbances, affecting many organs. Neurologic symptoms are often described, although renal defects can be considered the second most common features in TSC-affected individuals. In this issue of The American Journal of Pathology, Barone et al3 proposed the electrogenic exchanger ClC5 as a possible candidate for mediating chloride secretion into the renal cyst lumen in TSC.File | Dimensione | Formato | |
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