A hallmark of many ciliopathies are renal cysts, ultimatelydisrupting kidney architecture and resulting in end-stagerenal disease as the most common cause of mortality. Yetdespite being the largest demand for renal replacementtherapy (ie. dialysis, kidney transplantation) in youngpatients, the exact etiology of nephronophthisis (NPHP)and polycystic kidney disease is still largely unknown. Manygene products associated with NPHP and related disordersdo not directly affect cilia, but appear to be important intubular architecture, lumen formation, and polarized exocytosis.Personalized therapy to delay disease progression isbeginning to explore gene replacement therapy, throughuse -for example- of induced pluripotent stem cells (iPSCs).For patients with nonsense mutations in ciliopathy genes,read-through drugs such as PTC124 and modified aminoglycosidesmight hold future promise. Furthermore, severaldrug screens in cell-based, zebrafish, and murine modelshave suggested new pathways preserving kidney function.Although much of this work has yet to be validated inhuman patients, this overview will discuss the approachescurrently being employed in the context of improving ciliopathytreatment options.
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