renal cyst disorders and renal neoplasms Flashcards
ADPKD
autosomal dominant polycystic kidney disease. mutation in PKD1 (chromosome 16) or PKD2 (chromosome 4). innumerable cysts causes bilateral enlarged kidneys with cysts that develop over time (presents in adulthood). presents with flank pain, hematuria, HTN (incr. renin), urinary infection, and progressive renal failure.
death from complications of chronic kidney disease or HTN.
associated with berry aneurysms (often a cause of death), mitral valve prolapse, and benign hepatic cysts.
mnemonic: cysts in liver, cysts in the brain (cystic dilatation of blood vessel, hepatic cysts
ARPKD
autosomal recessive kidney disease. infantile presentation in the parenchyma. associated with congenital hepatic fibrosis (cysts in the liver + cysts in the kidney). significant renal failure in utero can lead to Potter sequence. concerns beyond neonatal period include HTN, portal HTN, progressive renal insufficiency.
medullary cystic disease
inherited disease causing tubulointerstitial FIBROSIS, SHRUNKEN kidney, and progressive renal insufficiency with inability to concentrate urine. cysts are in the MEDULLARY COLLECTING DUCTS. see shrunken kidneys on ultrasound. poor prognosis.
simple vs. complex renal cysts
simple usually found in outer cortex and are filled with ultrafiltrate. very common and account for the majority of renal masses. found incidentally; usually asymptomatic.
complex cysts: those that are septated, enhanced, or have solid components. require f/u or removal d/t risk of renal cell carcinoma
renal cell carcinoma: definition, histo, risk factors (non-genetic), clinical manifestations
malignant tumor that arises from the proximal tubule cells. appears as polygonal clear cells filled with accumulated lipids and carbohydrates. gross: large yellow tumor. most common in men 50-70 yrs old; incr. incidence with smoking and obesity.
clinical manifestations: hematuria, palpable mass, and flank pain. (though it is rare to get all three). May also cause fever or weight loss.
paraneoplastics from ectopic hormone production: secondary polycythemia (EPO), HTN (renin), hypercalcemia (PTHrP), cushing (ACTH). rarely may present with left sided varicocele.
invades renal vein, then IVC. spreads hematogenously. mets to lung and bone. if it goes to a lymph node, it will go to retroperitoneal lymph node.
What is the typical clinical course of renal cell carcinoma? Genetic predispositions to RCC? Paraneoplastic syndromes? treatment?
most common primary renal malignancy. silent cancer because it commonly presents as metastatic neoplasm (esp. to lung and bone). associated with gene deletion on chromosome 3 (von Hippel Lindau- usually a tumor suppressor gene that inhibits hypoxia inducible factor 1a. VHL mutations cuase high IGF1 (promotes growth) and increased hypoxia inducible factor, which increase VEGF and PDGF).
paraneoplastic syndromes: ectopic EPO, ACTH, PTHrP
tx: resection if localized. immunotherapy or targeted therapy for advanced/metastatic disease.
renal oncocytoma
benign epithelial tumor. well-circumscribed mass with a central scar. large eosinophilic cells with abundant mitochondria without perinuclear clearing (vs. chromophobe renal cell carcinoma)
presents with painless hematuria, flank pain, and an abdominal mass.
tx: nephrectomy
Wilms tumor
aka nephroblastoma. made of blasthema. most common renal malignancy of childhood (ages 2-4). contains embryonic glomerular structures. presents with huge, palpable flank mass and/or hematuria and/or HTN.
loss of function mutations of tumor suppressor genes WT1 or WT2 on chromosome 11.
usually sporatic, but syndromic tumors do exist:
1. WAGR: wilms tumor, aniridia, genitourinary malformation, and intellectual disability (MR). associated with deletion of WT1 gene.
2. Denys-Drash syndrome: Wilms tumor, progressive renal disease, male pseudohermaphroditism (testes + female external genitalia). associated with mutations of WT1 gene.
3. Beckwith-Wiedermann syndrome: Wims tumor, neonatal hypoglycemia, muscular hemihypertrophy, and organomegaly, including tongue. associtiated with mutations in the WT2 gene cluster, esp. IGF-2.
transitional cell carcinoma: definition, affected sites, risk factors, types, clinical course
most common tumor of the urinary tract system (renal calyces, renal pelvis, ureters, bladder). painless hematuria without casts suggests bladder cancer.
associated with smoking (number 1 risk factor. esp. polycyclic aromatic hydrocarbons), aniline dyes, naphthylamine (hydrocarbon in cigarette smoke), azo dyes, phenacetin and cyclophosphamide
arises via flat or papillary pathways: flat develop into a high grade flat tumor and then invades. associated with early p53 mutations. papillary: develops into a low-grade papillary tumor that progresses to a high grade tumor and then invades. NOT associated with early p53 mutations.
transitional cell carcinoma is often mutlifocal and recurs because of field defect- the whole epithelium has been hit with carcinogens for a long time.
squamous cell carcinoma of the bladder: risk factors
chronic irritation of the urinary bladder causes squamous metaplasia, which causes dysplasia and squamous cell carcinoma. risks: schistosoma haematobium infection, chronic cystitis, smoking, and chronic nephrolithiasis. presents with painless hematuria.
angiomyolipoma
hamartoma made of blood vessels, smooth muscle, and adipose tissue. incr. freq in tuberous sclerosis. tuberous sclerosis is a disease of hamartomas in the CNS and skin (hamartoma = benign neoplasm that looks like its tissue of origin but is disorganized), angiofibromas, mitral regurg, ash-leaf spotts, cardiac rhabdomyoma, intellectual disabililty, renal angiomyolipoma, seizures, shagreen patches. higher incidence of supependymal astrocytomas and ungual fibromas.
Von hippel lindau
autosomal dominant disorder associated with inactivation of the VHL gene (a tumor suppressor gene that reduces hypoxia inducible factor (HIF favors VEGF and PDGF) and reduces IGF-1. IGF-1 is a growth factor.
presents with increased risk for hemangioblastoma of the cerebellum (high vascularity with hyperchromatic nuclei; may make EPO –> secondary polycythemia) and renal cell carcinoma. may also see hemangiomas in the skin, mucosa, organs. Pheochromocytomas also seen.
adenocarcinoma of the lower urinary tract
malignant proliferation of glands, usually involving the bladder. arises from a urachal remnant (tumor develops at the dome of the bladder. recall that the urachus connects the dome of the bladder to the yolk sac through the umbilical cord. it is lined by glandular cells), cystitis glandularis, or exstrophy (congenital failure to form the caudal portion of the anterior abdominal and bladder walls)
dysplastic kidney
non-inherited congenital malformation of the renal parenchyma characterized by cysts and abnormal tissue (esp. cartilage). usually unilateral, but often bilateral on the boards (to force you to distinguish between dysplastic kidney and inherited polycystic kidney disease)
