Summary of Renal Cystic Diseases Flashcards

1
Q

Multicystic kidney disease

A

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

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2
Q

Nephronophthisis: Tubulointerstitial kidney diseases (small kidneys)

A

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.

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3
Q

Nephronophthisis: Tubulointerstitial kidney diseases (small kidneys)

A

Autosomal recessive:

NPHP1-3, multiple other syndromes associated with small kidneys and often abnormal eye findings (e.g., retinitis pigmentosa)

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4
Q

Autosomal-dominant or spontaneous germ line and somatic mutation: TSC

A

Tuberous sclerosis: hamartomas, AML

TSC/PKD1 continuous gene deletion syndrome: enlarged polycystic kidney disease similar to ADPKD

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5
Q

Autosomal-dominant or spontaneous germ line and somatic mutation: TSC

A

Von Hippel–Lindau disease: associated with multiorgan malignancies including RCC, pheochromocytoma, pancreatic islet cell tumor/cysts, hemangioblastomas

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6
Q

Polycystic kidney disease

A

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.

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7
Q

Polycystic kidney disease

A

Autosomal dominant

Enlarged kidneys; PKD1 reaches ESRD by fourth decade versus sixth decade by PKD2; association with polycystic liver disease

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8
Q

Medullary sponge kidney disease

A

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

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9
Q

Acquired cysts

A

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)

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10
Q

Others:

A

Bengin (multilocular) cystic nephroma (may appear malignant, i.e., Bosniak class III), glomerulocystic kidney disease (familial, sporadic, or infantile manifestation of ADPKD)

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