CILIOPATHIES (KIDNEY)
CILIOPATHIES OLD NAME: CHRONIC TUBULOINTERSTITIAL DISORDERS cilia in kidney located in: Proximal convoluted tubule (PCT) Distal convoluted tubule (DCT) Collecting duct But not in the loop of henle because its primary function is reabsorption of water. - Motile cilia → Lungs, Embryonic development (affected in kartagener syndrome) - Non motile cilia → collecting ducts of kidney , Retinal pigmentary epithelium(RPE) ciliopathy autosomal dominant polycystic kidney disease(ADPKD) autosomal recessive polycystic kidney disease(ARPKD) Medullary sponge kidney ADTKD (Tubulointerstital kidney disease) aka medullary cystic kidney disease (MCKD) Nephronophthisis Medullary sponge kidney disease Sporadic Developmental malformation of cilia cystic dilatation of collecting duct incidental diagnosis - 50-60 years clinical presentation Renal stones - calcium oxalate (recurrent stones) Renal UTI/Pyelonephritis/ tenderness at costovertebral junction Hematuria...