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Nephrology > Tumors and Polycystic kidney diseases > Flashcards

Tumors and Polycystic kidney diseases Flashcards

1
Q

Diagnosis

A

Autosomal recessive polycystic kidney disease (ARPKD)

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2
Q

Description and Diagnosis

A
  • Elongated cysts that fill most of parenchyma and are radially arranged
  • Autosomal recessive polycystic kidney disease (ARPKD)
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3
Q

Diagnosis

A

Multicystic renal dysplasia

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4
Q

Description and Diagnosis

A
  • Large cysts lined by cuboidal epithelium and fibrotic parenchyma
  • Multicystic renal dysplasia
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5
Q

Diagnosis

A

Autosomal dominant polycystic kidney disease (ADPKD)

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6
Q

Description and Diagnosis

A
  • Multiple small cysts, none of which is more than 2 cm in diameter
  • Cystic change associated with chronic renal dialysis
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7
Q

Diagnosis

A

Simple renal cyst

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8
Q

Description and Diagnosis

A
  • Very small cysts that involve the inner medullary and papillary regions of the kidney
  • Medullary sponge kidney
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9
Q

Autosomal dominant polycystic kidney disease (ADPKD)

(Presentation)

A
  • Usually presents after the age of 30
  • Could be presented with:

* Pain

* Hematuria

* Stones

* Infection

* Hypertension

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10
Q

Autosomal dominant polycystic kidney disease (ADPKD)

(Associations)

A
  • Hepatic cysts (most common site outside kidneys and without fibrosis)
  • Ovarian cysts
  • Berry aneurysms
  • Mitral valve prolapse (MVP)
  • Diverticulosis
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11
Q

Autosomal dominant polycystic kidney disease (ADPKD)

(Causes)

A
  • 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
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12
Q

Autosomal dominant polycystic kidney disease (ADPKD)

(Diagnosis)

A

CT scan and U/S

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13
Q

Autosomal dominant polycystic kidney disease (ADPKD)

(Treatment)

A
  • Hypertension control with ACEIs and ARBs
  • Urgent treatment of UTIs
  • Dialysis and renal transplantation
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14
Q

Autosomal dominant polycystic kidney disease (ADPKD)

(Most common cause of death)

A

End-stage renal disease

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15
Q

Autosomal recessive polycystic kidney disease (ARPKD)

(Causes)

A
  • 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
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16
Q

Autosomal recessive polycystic kidney disease (ARPKD)

(Presentation)

A
  • Oliguric renal failure in utero that can lead to Potter sequence
  • Systemic and portal hypertension from congenital hepatic fibrosis and progressive renal insufficiency
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17
Q

Simple cysts

(Features on U/S)

A
  • Echo free or anechoic
  • Smooth and thin walls
  • Sharp demarcations
  • Good through to back transmission
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18
Q

Complex cysts

(Features on U/S)

A
  • 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

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19
Q

Medullary cystic kidney disease (MCKD)

(Autosomal dominant tubulointerstitial kidney disease)

(Causes)

A
  • 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
20
Q

Medullary cystic kidney disease (MCKD)

(Autosomal dominant tubulointerstitial kidney disease)

(Presentation)

A
  • Pallor, nausea and anorexia
  • Polydipsia and polyuria
  • Also in case of UMOD mutation also there will be hyperuricemua that may cause pruritis
21
Q

Renal cell carcinoma

(Risk factors)

A
  • Cigarette smoking
  • Obesity
  • Chronic analgesic use
  • Asbestos exposure
  • Chronic renal failure
  • Aquired cystic disease
  • von Hippel-Lindau disease
22
Q

Renal cell carcinoma

(Presentation)

A
  • 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
23
Q

Renal cell carcinoma

(Metastasis)

A

Spreads hematogenously to:

  • Lungs
  • Bones
24
Q

Renal cell carcinoma

(Treatment)

A
  • 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
25
Q

Description and Diagnosis

A
  • Nests of clear cytoplasmic cells (originates from PCT cells)
  • Renal cell carcinoma (clear cell carcinoma)
26
Q

Description and Diagnosis

A
  • Eosinophilic cytoplasim of the papillary variant
  • Renal cell carcinoma
27
Q

Diagnosis

A

Renal cell carcinoma with invasion of the renal vein

28
Q

Description and Diagnosis

A
  • Nests with thick membranes, eosinophilic cytoplasms with fine reticular pattern and perinuclear halos
  • Renal cell carcinoma (chromophobe variant)
29
Q

Description and Diagnosis

A
  • Well circumscribed mass that is unencapsulated, with central stellate scar
  • Oncocytoma
30
Q

Description and Diagnosis

A
  • Solid nests of tumor cells separated by variable amount of hypocellular hyalinized stroma
  • Oncocytoma
31
Q

Description and Diagnosis

A
  • Closely packed nests of tumor cells with eosinophilic cytoplasm without perinuclear halos (vs chromophobe renal cell carcinoma)
  • Oncocytoma
32
Q

Oncocytoma

(Causes)

A
  • It originates from the intercalated cells of the collecting ducts
  • It consists of epithelial tumor cells (oncocytes) with excessive amount of mitochondria
33
Q

Oncocytoma

(Treatment)

A

Surgical resection to exclude malignancy

34
Q

Nephroblastoma (Wilms tumor)

(Causes)

A
  • 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
35
Q

Nephroblastoma (Wilms tumor)

(Presentation)

A
  • In children age 2-5 years
  • Large, palpable, unilateral flank mass with or without hematuria
36
Q

Nephroblastoma (Wilms tumor)

(Associations)

A
  • Beckwith-Wiedemann syndrome
  • Denys-Drash syndrome
  • WAGR syndrome
  • Perlman syndrome
37
Q

Description and Diagnosis

A
  • Large, lobulated, tan-white mass
  • Nephroblastoma (Wilms tumor)
38
Q

Desdription and Diagnosis

A
  • Triphasic appearance with abundant epithelial component (tubules), nodules of metanephric blastema and scant amount of fibroblastic stroma
  • Nephroblastoma (Wilms tumor)
39
Q

Urothelial Carcinoma

(Risk factors)

A
  • Cigarette smoking
  • Phenacetin
  • Aniline dyes
  • Cyclophosphamide
  • Polycyclic aromatic hydrocarbons or aromatic amines like beta-naphthylamine
40
Q

Diagnosis

A

Urothelial carcinoma

41
Q

Diagnosis

A

Urothelial carcinoma

42
Q

Squamous cell carcinoma of bladder

(Risk factors)

A
  • Schistosoma haematobium infection (middle east and Egypt)
  • Chronic cystitis
  • Cigarette smoking
  • Chronic nephrolithiasis
43
Q

Diagnosis

A

Squamous cell carcinoma of bladder

44
Q

Description

A

Keratin pearls with focal squamous differentiation (can be found in both urothelial and squamous cell carcinomas)

45
Q

Bladder Cancer

(Treatment)

A
  • 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
46
Q

Diagnosis

A

Angiomyolipoma

47
Q

Description and Diagnosis

A
  • Variable amounts of adipose tissue, smooth muscles and thick-walled blood vessels
  • Angiomyolipoma (a hamertoma that can be sporadic or associated with tuberous sclerosis)

Nephrology (7 decks)

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