Tumors and Polycystic kidney diseases Flashcards
Diagnosis
Autosomal recessive polycystic kidney disease (ARPKD)
Description and Diagnosis
- Elongated cysts that fill most of parenchyma and are radially arranged
- Autosomal recessive polycystic kidney disease (ARPKD)
Diagnosis
Multicystic renal dysplasia
Description and Diagnosis
- Large cysts lined by cuboidal epithelium and fibrotic parenchyma
- Multicystic renal dysplasia
Diagnosis
Autosomal dominant polycystic kidney disease (ADPKD)
Description and Diagnosis
- Multiple small cysts, none of which is more than 2 cm in diameter
- Cystic change associated with chronic renal dialysis
Diagnosis
Simple renal cyst
Description and Diagnosis
- Very small cysts that involve the inner medullary and papillary regions of the kidney
- Medullary sponge kidney
Autosomal dominant polycystic kidney disease (ADPKD)
(Presentation)
- Usually presents after the age of 30
- Could be presented with:
* Pain
* Hematuria
* Stones
* Infection
* Hypertension
Autosomal dominant polycystic kidney disease (ADPKD)
(Associations)
- Hepatic cysts (most common site outside kidneys and without fibrosis)
- Ovarian cysts
- Berry aneurysms
- Mitral valve prolapse (MVP)
- Diverticulosis
Autosomal dominant polycystic kidney disease (ADPKD)
(Causes)
- Mutation of PKD1 on Chrom. 16 (85%) that encodes for polycystin 1
- Mutation of PKD2 0n Chrom. 4 (15%) that encodes for polycystin 2
- The cysts will be in cortex and medulla
Autosomal dominant polycystic kidney disease (ADPKD)
(Diagnosis)
CT scan and U/S
Autosomal dominant polycystic kidney disease (ADPKD)
(Treatment)
- Hypertension control with ACEIs and ARBs
- Urgent treatment of UTIs
- Dialysis and renal transplantation
Autosomal dominant polycystic kidney disease (ADPKD)
(Most common cause of death)
End-stage renal disease
Autosomal recessive polycystic kidney disease (ARPKD)
(Causes)
- Mutation of PKHD1 gene that encodes for fibrocystin that is expressed on cilia of renal tubular and bile duct epithelial cells
- Cystic dilatation of collecting ducts
Autosomal recessive polycystic kidney disease (ARPKD)
(Presentation)
- Oliguric renal failure in utero that can lead to Potter sequence
- Systemic and portal hypertension from congenital hepatic fibrosis and progressive renal insufficiency
Simple cysts
(Features on U/S)
- Echo free or anechoic
- Smooth and thin walls
- Sharp demarcations
- Good through to back transmission
Complex cysts
(Features on U/S)
- Mixed echogenicity
- Irregular and thick walls
- Lower density on back wall
- Debris in the cyst
Note: these cysts are potentially malignant and should be excised
Medullary cystic kidney disease (MCKD)
(Autosomal dominant tubulointerstitial kidney disease)
(Causes)
- Mutation of MUC1 on Chrom. 1 that encodes for mucin-1 protein that coats the surface of tubules and protects them in the ascending loop of Henle and DCT
- Mutation of UMOD on Chrom. 16 that encodes for uromodulin protein
Medullary cystic kidney disease (MCKD)
(Autosomal dominant tubulointerstitial kidney disease)
(Presentation)
- Pallor, nausea and anorexia
- Polydipsia and polyuria
- Also in case of UMOD mutation also there will be hyperuricemua that may cause pruritis
Renal cell carcinoma
(Risk factors)
- Cigarette smoking
- Obesity
- Chronic analgesic use
- Asbestos exposure
- Chronic renal failure
- Aquired cystic disease
- von Hippel-Lindau disease
Renal cell carcinoma
(Presentation)
- Most common in men 50-70 years
- Classic triad (10%): hematuria, flank pain and palpable mass
- Paraneoplastic syndromes including polycythemia, hypertension, Cushing syndrome, hypercalcemia, feminization or musculinization
- Secondary amyloidosis, leukemoid reaction or eosinophilia
- Left varicocele due to invasion of left renal vein
Renal cell carcinoma
(Metastasis)
Spreads hematogenously to:
- Lungs
- Bones
Renal cell carcinoma
(Treatment)
- Resection if localized
- Immunotherapy like aldesleukin or targeted therapy for advanced/metastatic disease. New tyrosine kinase inhibitors (sorafenib, sunitinib) approved for the treatment (they decrease tumor angiogenesis and cell proliferation)
- Resistant to chemotherapy and radiotherapy
Description and Diagnosis
- Nests of clear cytoplasmic cells (originates from PCT cells)
- Renal cell carcinoma (clear cell carcinoma)
Description and Diagnosis
- Eosinophilic cytoplasim of the papillary variant
- Renal cell carcinoma
Diagnosis
Renal cell carcinoma with invasion of the renal vein
Description and Diagnosis
- Nests with thick membranes, eosinophilic cytoplasms with fine reticular pattern and perinuclear halos
- Renal cell carcinoma (chromophobe variant)
Description and Diagnosis
- Well circumscribed mass that is unencapsulated, with central stellate scar
- Oncocytoma
Description and Diagnosis
- Solid nests of tumor cells separated by variable amount of hypocellular hyalinized stroma
- Oncocytoma
Description and Diagnosis
- Closely packed nests of tumor cells with eosinophilic cytoplasm without perinuclear halos (vs chromophobe renal cell carcinoma)
- Oncocytoma
Oncocytoma
(Causes)
- It originates from the intercalated cells of the collecting ducts
- It consists of epithelial tumor cells (oncocytes) with excessive amount of mitochondria
Oncocytoma
(Treatment)
Surgical resection to exclude malignancy
Nephroblastoma (Wilms tumor)
(Causes)
- Mutation of WT1 on Chrom. 11 in which half of the cases also have a mutation of CTNNB1 gene on Chrom. 3 that encodes for beta-catenin which is involved in regulation and coordination of cell-cell adhesion and gene transcription
- Mutation of WT2 on Chrom. 11
- Mutation of WX on X Chrom.
- Most of cases are idiopathic with no mutations in these genes
Nephroblastoma (Wilms tumor)
(Presentation)
- In children age 2-5 years
- Large, palpable, unilateral flank mass with or without hematuria
Nephroblastoma (Wilms tumor)
(Associations)
- Beckwith-Wiedemann syndrome
- Denys-Drash syndrome
- WAGR syndrome
- Perlman syndrome
Description and Diagnosis
- Large, lobulated, tan-white mass
- Nephroblastoma (Wilms tumor)
Desdription and Diagnosis
- Triphasic appearance with abundant epithelial component (tubules), nodules of metanephric blastema and scant amount of fibroblastic stroma
- Nephroblastoma (Wilms tumor)
Urothelial Carcinoma
(Risk factors)
- Cigarette smoking
- Phenacetin
- Aniline dyes
- Cyclophosphamide
- Polycyclic aromatic hydrocarbons or aromatic amines like beta-naphthylamine
Diagnosis
Urothelial carcinoma
Diagnosis
Urothelial carcinoma
Squamous cell carcinoma of bladder
(Risk factors)
- Schistosoma haematobium infection (middle east and Egypt)
- Chronic cystitis
- Cigarette smoking
- Chronic nephrolithiasis
Diagnosis
Squamous cell carcinoma of bladder
Description
Keratin pearls with focal squamous differentiation (can be found in both urothelial and squamous cell carcinomas)
Bladder Cancer
(Treatment)
- Carcinoma in situ: intravesicular chemotherapy
- Superficial cancers: complete transurethral resection or intravesicular chemotherapy with mitomycin-C or BCG (the TB vaccine)
- Large, high grade recurrent lesions: intravesicular chemotherapy
- Invasive without metastasis: radical cystectomy or radiotherapy for those who are deemed poor candidates for surgery as well as those with unresectable local disease
- Invasive with distant metastasis: chemotherapy alone
Diagnosis
Angiomyolipoma
Description and Diagnosis
- Variable amounts of adipose tissue, smooth muscles and thick-walled blood vessels
- Angiomyolipoma (a hamertoma that can be sporadic or associated with tuberous sclerosis)
