Summary of Renal Cystic Diseases Flashcards
Multicystic kidney disease
Congenital abnormality of kidney and urinary tract where irregular cysts replace normal renal parenchyma; spontaneous involution of cysts may lead to unilateral atrophic nonfunctioning kidney; association with vesicoureteral reflux
Nephronophthisis: Tubulointerstitial kidney diseases (small kidneys)
Autosomal dominant:
Mutations of uromodulin (Tamm Horsfall protein), mucin 1, prorenin, or HNF-1b; early hyperuricemia and gout are associated with UROMOD and REN mutations.
Nephronophthisis: Tubulointerstitial kidney diseases (small kidneys)
Autosomal recessive:
NPHP1-3, multiple other syndromes associated with small kidneys and often abnormal eye findings (e.g., retinitis pigmentosa)
Autosomal-dominant or spontaneous germ line and somatic mutation: TSC
Tuberous sclerosis: hamartomas, AML
TSC/PKD1 continuous gene deletion syndrome: enlarged polycystic kidney disease similar to ADPKD
Autosomal-dominant or spontaneous germ line and somatic mutation: TSC
Von Hippel–Lindau disease: associated with multiorgan malignancies including RCC, pheochromocytoma, pancreatic islet cell tumor/cysts, hemangioblastomas
Polycystic kidney disease
Autosomal recessive
Kidneys are enlarged in utero and infancy but may reduce in size with age due to fibrosis; association with hepatobiliary fibrosis, ascending cholangitis, ultrasound notable for radially arrayed dilated collecting ducts spanning from cortex to medulla.
Polycystic kidney disease
Autosomal dominant
Enlarged kidneys; PKD1 reaches ESRD by fourth decade versus sixth decade by PKD2; association with polycystic liver disease
Medullary sponge kidney disease
Bilateral multiple spherical cysts (1 to 8 mm) or diffuse linear striations arise from distal convoluted tubules or collecting ducts in that papillae +/− calcium apatite concretions. Classic CT finding of “paintbrush” or “bouquet of flowers” sign
Acquired cysts
Simple cysts: increased with age; may be associated with reduced renal mass, increased body mass index, reduced kidney function
Acquired cystic kidney disease (associated with CKD)
Others:
Bengin (multilocular) cystic nephroma (may appear malignant, i.e., Bosniak class III), glomerulocystic kidney disease (familial, sporadic, or infantile manifestation of ADPKD)