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CPR EXAM 2 > Renal Path 3a > Flashcards

Renal Path 3a Flashcards

1
Q

Congenital disorders of the kidney

A

Agenesis (r/o unilateral prior to renal biopsy or nephrectomy; bilateral incompatible with life)

Hypoplasia —often unilateral

Ectopic kidney

Horseshoe kidney — usually fused at lower pole; often asymptomatic

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2
Q

In cases of unilateral agenesis of the kidney, the existing kidney commonly exhibits hypertrophy, increasing the risk of _____

A

HTN

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3
Q

Most common anatomic site for ectopic kidney

A

Just above pelvic brim or within the pelvis

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4
Q

Cystic diseases of the kidney

A

Multicystic renal dysplasia

Polycystic kidney disease (AD in adults, AR in kids)

Medullary cystic disease (includes medullary sponge kidney and nephronophthisis)

Acquired (dialysis-associated) cystic disease

Localized (simple) renal cysts

Renal cysts in hereditary malformation syndromes

Glomerulocystic disease

Extraparenchymal renal cysts (pyelocalyceal, hilar lymphangitic)

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5
Q

Inheritance, morphology, clinical features, and outcomes associated with adult polycystic kidney disease

A

Autosomal dominant

Large multicystic kidneys, liver cysts, berry aneurysms

Hematuria, flank pain, UTI, renal stones, HTN

Chronic renal failure beginning at age 40-60 years

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6
Q

Inheritance, morphology, clinical features, and outcomes associated with infant/childhood polycystic kidney

A

Autosomal recessive

Enlarged, cystic kidneys at birth

Hepatic fibrosis

Variable outcome, death in infancy or childhood

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7
Q

Inheritance, morphology, clinical features, and outcomes associated with medullary sponge kidney

A

No inheritance pattern

Medullary cysts on excretory urography

Hematuria, UTI, recurrent renal stones

Benign outcome

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8
Q

Inheritance, morphology, clinical features, and outcomes associated with familial juvenile nephronophthisis

A

Autosomal recessive

Corticomedullary cysts, shrunken kidneys

Salt wasting, polyuria, growth retardation

Outcome: progressive renal failure in childhood

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9
Q

Inheritance, morphology, clinical features, and outcomes associated with adult-onset nephronophthisis

A

Autosomal dominant

Corticomedullary cysts, shrunken kidneys

Salt wasting, polyuria

Results in chronic renal failure in adulthood

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10
Q

Inheritance, morphology, clinical features, and outcomes associated with simple kidney cysts

A

No inheritance pattern

Single or several cysts with normal-sized kidneys

Clinically: rare microscopic hematuria

Benign outcome

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11
Q

Inheritance, morphology, clinical features, and outcomes associated with acquired renal cystic disease

A

No inheritance pattern

Cystic degeneration in end-stage kidney disease

Clinically: hemorrhage, erythrocytosis, neoplasia

Outcome depends on dialysis

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12
Q

Inheritance, morphology, clinical features, and outcomes associated with multicystic renal dysplasia

A

No inheritance pattern

Irregular kidneys with cysts of various size, cartilage

Clinically associated with abdominal mass; other renal anomalies

Outcome: renal failure if bilateral; surgically curable if unilateral (normal life expectancy)

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13
Q

T/F: autosomal dominant polycystic kidney disease is universally unilateral

A

False — it is universally bilateral!

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14
Q

Specific genetics of autosomal dominant (adult) polycystic kidney disease

A

Occurs in individuals of Northern European descent. Manifestation requires mutation of both alleles of either PKD gene

85% ADPKD: defective PKD1 gene, chromosome 16 (codes for polycystin 1)

15% ADPKD: defective PKD2 gene, chromosome 4 (codes for polycystin 2)

Note that defective PKD2 gene has slightly better prognosis; PKD1 has higher likelihood of developing ESRF

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15
Q

Possible mechanism for cyst formation in ADPKD and their potential complications

A

Mutations in polycystin 1, 2, or fibrocystin of nephrocystins

Altered mechanosensation by tubular cilia or altered calcium flux

Altered tubular epithelial growth and differentiation

Abnormal ECM, cell proliferation, and fluid secretion

Cyst formation

Cysts may lead to glomerular or vascular damage as well as interstitial inflammation/fibrosis

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16
Q

Major clinical characteristics of ADPKD

A

5-10% of pts evolve to chronic renal failure

Insidious onset in 4th, 5th, or 6th decade with renal insufficiency (HTN, azotemia)

May exhibit abdominal pain, hemorrhage, hematuria

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17
Q

What patient populations with ADPKD may have a more aggressive clinical course?

A

African-Americans (correlation with sickle cell trait)

M > F

Those with concomitant HTN

[overall increased incidence of nephrolithiasis and UTI in these pts]

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18
Q

Clinically significant extra-renal manifestations of ADPKD

A

40% have hepatic cysts

4-10% die of subarachnoid hemorrhage secondary to ruptured berry aneurysms in circle of willis

25% have mitral valve prolapse

82% have diverticular dz of the colon

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19
Q

Specific genetics with autosomal recessive polycystic kidney disease (ARPKD)

A

In most cases, the defective gene is PKHD 1 on chromosome 6, which encodes the large novel protein fibrocystin

Numerous mutations occur which probably account for the spectrum/diversity of clinical presentations

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20
Q

Characteristic gross appearance of kidneys with ARPKD

A

Characteristically slightly enlarged, exhibiting numerous small (1-2mm) LINEAR/radial-arrayed cysts derived from dilated collecting ducts

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21
Q

4 major clinical subtypes of ARPKD including most common types

A

Perinatal (MOST common): >90% of ducts are cystic, minimal hepatic fibrosis, survival only a few hours; death associated with concomitant hypoplastic lungs

Neonatal: ~60% renal CDs are cystic; mild hepatic fibrosis. Generally survive several months but die from renal failure

Infantile: ~20% CDs are cystic; hepatic fibrosis/hepatic failure, portal HTN, and systemic HTN common; 90% survive neonatal period but nearly all die in childhood

Juvenile: <10% CDs are cystic; hepatic fibrosis is PROGRESSIVE; most salient clinical problem is portal HTN with esophageal varices. Most do not survive to adolescence

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22
Q

As a group, now considered to be the most common GENETIC cause of ESRD in adolescents and young adults

A

Nephronophthisis-Medullary cystic disease

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23
Q

Clinical features of nephronophthisis-medullary cystic disease

A

3 forms recognized: sporadic, familial/juvenile (MOST COMMON), and renal-retinal dysplasia

Generally affect distal tubules — associated with inability to concentrate urine; present initially with polyuria and polydipsia

Renal failure occurs secondary to progressive cortical/tubulointerstitial damage

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24
Q

Mutations in ____ and _____ have been identified as causing medullary cystic disease

A

MCKD1; MCKD2

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25
Q

What are some anomalies often noted with multicystic renal dysplasia?

A

Most cases have an absent ureter (agenesis), ureteropelvic obstruction or other lower GU anomalies

[these are rather common masses to find in perinatal period]

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26
Q

Pathologic morphology features of multicystic renal dysplasia

A

Extensive multiple, variably sized cysts with intervening rather poorly-differentiated mesenchyme, often with cartilage formations and immature collecting ducts

Note on histology: markedly disorganized architecture, dilated tubules with cuffs of primitive stroma, no glomeruli and an island of cartilage (H&E stain)

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27
Q

5-10% of americans experience kidney stone formation (80% are unilateral). What populations are most at risk?

A

Men > women

Familial predisposition

Peak age of onset = 3rd decade (age 20-30)

Other predisposing factors: increased concentration of stone constituents, changes in urine pH, decreased urine volume, presence of bacteria

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28
Q

Complications of nephrolithiasis

A

Intense pain/renal colic

Ulceration and bleeding or ureter (or calyceal) mucosa

Obstruction of urinary flow

Small stones are hazardous because they can ente the ureter; these small jagged stones cause severe pain as they may elicit spasms of the ureteral smooth muscle (this is what causes renal colic)

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29
Q

Types of renal stones (note most common)

A

70% are calcium oxalate or phosphate (most common)

15-20% are magnesium ammonium phosphate (struvite)

5-10% are uric acid

1-2% are cystine

30
Q

Benign forms of renal neoplasia (note most common)

A

Renal papillary adenoma (MOST common)

Angiomyolipoma

Oncocytoma

Renal fibroma or hamartoma (renomedullary interstitial cell tumor in adults, mesoblastic nephroma in children)

Juxtaglomerular cell tumor (renin-producing)

Other stromal or mesenchymal tumors — lipoma, leiomyoma, angioma, etc

31
Q

The majority of benign renal neoplasms rarely cause clinical problems and are usually discovered as incidental findings on imaging studies or at autopsy. The majority are also small (many less than a cm). However, occasionally _____ or ______ can measure 10cm or more

A

Oncocytomas; angiomyolipomas

32
Q

What does it mean to say that renal papillary adenomas are defined by size?

A

Considered benign when < 1cm

Neoplasms > 1cm in diameter with adenoma histomorphology now usually classified as low grade RCC (aka potentially malignant)

33
Q

Gross and histological appearance of renal papillary adenoma

What is a cytogenic association?

A

Cortical, discrete, yellow-gray, small, may be multiple

Histology: acidophilic cytoplasm, papillae (may see psammoma bodies), thin fibrovascular cores

Cytogenetics: trisomy 7 and 17

34
Q

Type of renal tumor arising from [type A] intercalated cells of renal cortical collecting ducts (involved in acid-base homeostasis)

A

Renal oncocytoma

35
Q

Renal oncocytomas represent 5-15% of primary renal epithelial neoplasms (oncocytes are enlarged cells with pink cytoplasm with glassy appearance). Most are sporadic, but familial cases do exist. What are features of a familial form of renal oncocytoma?

A

Multicentricity, bilaterality, or oncocytosis (increased cytoplasmic change)

36
Q

What type of benign renal tumor is highly clinically significant because it may appear similar to renal cell carcinoma, especially clear cell or chromophobe variant?

A

Renal oncocytoma

37
Q

Gross and histologic appearance of renal oncocytoma

A

Typically mahogany brown and well-circumscribed, often with central stellate scar; may be quite large (>10-15cm)

Histo: abundant acidophilic, granular cytoplasm (mitochondria); may show alveolar, nesting, tubular or solid pattern

38
Q

What type of renal tumor has strong association with tuberous sclerosis?

A

Renal angiomyolipoma

39
Q

What patient population tends to get renal angiomyolipoma? What are some genetic associations?

A

Present in adults, typically middle-aged, Females more likely

Associated with loss of TSC1 or TSC2 tumor suppressor genes

40
Q

Clinical significance of renal angiomyolipoma

A

DDx with RCC; on occasion may spontaneously rupture with massive retroperitoneal and/or intraabdominal hemorrhage, so initial presentation may be shock

41
Q

Renal angiomyolipoma is associated with loss of TSC1 or 2 tumor suppressor genes

TSC = tuberous sclerosis complex

What is the inheritance pattern for this, and what tumor lesions are associated?

A

Autosomal dominant inheritance

Tumors or lesions of brain, skin, kidney, heart, lungs, eyes

Brain: intraventricular hamartomas
Skin: angiofibromas
Kidneys: angiomyolipomas
Heart: rhabdomyomas
Lungs: leiomyomas
Eyes: leisch nodules
42
Q

Demographics of RCC

A

Unusual but nevertheless MOST COMMON of adult kidney cancers (85%)

Affects adults in 6th-8th decade, Males more common

43
Q

Risk factors and inheritance patterns for RCC

A

Risk factors: cigarette smoking, HTN, obesity, estrogens, asbestos, chronic renal disease, tuberous sclerosis, acquired cystic disease

Most are sporadic, but 4% are hereditary (autosomal dominant, affect younger pts)

Other genetic associations: VHL syndrome, hereditary clear cell carcinoma, hereditary papillary carcinoma

44
Q

Classifications of renal cell carcinoma include clear cell, papillary carcinoma, chromophobe renal carcinoma, Xp11 translocation carcinoma, collecting [Bellini] duct carcinoma, and medullary carcinoma

Describe clear cell type

A

MOST COMMON — 70-80%

Non-papillary

Clear cytoplasm (some granular)

Sporadic in 95% of cases

Of the familial ~98% have Chr 3 short arm deletions/translocations (**VHL tumor suppressor gene)

45
Q

Classifications of renal cell carcinoma include clear cell, papillary carcinoma, chromophobe renal carcinoma, Xp11 translocation carcinoma, collecting [Bellini] duct carcinoma, and medullary carcinoma

Describe papillary carcinoma in terms of incidence, general prognosis and genetics associated

A

10-15% of RCC cases; Has papillary growth pattern

Relatively better prognosis

Genetics: trisomy 7, 16, 17; lost Y (MET proto-oncogene)

46
Q

Classifications of renal cell carcinoma include clear cell, papillary carcinoma, chromophobe renal carcinoma, Xp11 translocation carcinoma, collecting [Bellini] duct carcinoma, and medullary carcinoma

Describe chromophobe type in terms of incidence, histology, general prognosis, and cells from which it arises from

A

5% of RCC cases

Pale eosinophilic cytoplasm, nuclear halos

Relatively better prognosis

Arises from [type B] intercalated cells of renal cortex collecting ducts (compare to type A in oncocytoma)

47
Q

Classifications of renal cell carcinoma include clear cell, papillary carcinoma, chromophobe renal carcinoma, Xp11 translocation carcinoma, collecting [Bellini] duct carcinoma, and medullary carcinoma

Describe collecting [bellini] duct carcinoma in terms of location and general prognosis

A

Medullary location

Poor prognosis

48
Q

Sporadic clear cell RCC often involves deletions on chromosome ____ —> loss of ______ which codes for proteins that degrade many growth factors (i.e., tumor suppressor)

A

3; VHL

49
Q

RCC classic triad of most common presenting signs/symptoms

A

Hematuria
Costovertebral pain
Palpable flank mass

Note that all 3 are present in only 10% of RCC pts

50
Q

Clinical course of RCC

A

Tends to reach large size and widespread metastases before local signs/symptoms

Then generalized non-specific symptoms like weight loss, malaise, weakness, FEVER

RCC is considered one of the great “mimics” in medicine d/t propensity to cause numerous symptoms unrelated to kidney — including hormonal effects causing many paraneoplastic and other unusual manifestations

51
Q

2 most important factors in prognosis of RCC

A

Stage

Histologic type:
Chromophobe has better prognosis

Papillary and clear cell have avg prognosis

CD, sarcomatoid, and medullary have worse prognosis

52
Q

Typical mode of spread of RCC

A

Typically hematogenous, not lymphatic (d/t early invasion of renal vein)

53
Q

What type of RCC may mimic adrenal gland on histology?

A

Clear cell RCC aka hypernephroma

54
Q

Characteristic morphology of papillary RCC

A

Papillae and foamy macrophages in stalk

55
Q

Characteristic histology of chromophobe RCC

A

Pale, eosinophilic cells arranged in solid sheets; well-defined cell membranes and faintly granular cytoplasm with perinuclear clear halos; tend to concentrate around blood vessels

56
Q

What rare type of RCC is composed of spindle cells simulating a mesenchymal neoplasm?

A

Sarcomatoid RCC — note that a sarcomatoid component may arise in any RCC, implying a poor prognosis

57
Q

What rare type of RCC shows branching tubules lined by highly atypical cuboidal cells?

A

Collecting duct carcinoma

58
Q

Urothelial carcinoma of the kidney may be multiple and 50% of pts have concomitant tumors in the ____

A

Bladder

59
Q

Clinical presentation and prognosis of urothelial (transitional cell) carcinoma of kidney

A

Painless hematuria

Usually small when discovered; location related to degree and persistence of hematuria

May block urinary outflow and lead to palpable hydronephrosis and flank pain

Frequently infiltrates wall of pelvis/calyces

Generally poor prognosis

60
Q

4th most common childhood malignancy behind acute leukemia (1), neuroblastoma (2), and retinoblastoma (3)

A

Wilms tumor (used to be called nephroblastoma)

61
Q

Population affected by wilms tumor

A

Asians > Whites > Blacks

Generally childhood tumor, peak cases at age 2-5

62
Q

Clinical presentation of wilms tumor

A

Typically discovered as large abdominal mass by parent or medical practitioner and may exhibit pain, microscopic hematuria, HTN

63
Q

5-10% of Wilms tumors are bilateral, indicating familial inheritance. What are some associated genetic changes and syndromes?

A

Group 1: WAGR syndrome (Wilms-Aniridia-Genital-Retardation)

Group 2: Denys-Drash Syndrome

Group 3: Beckwith-Wiedemann syndrome

Groups 1 and 2 associated with Chr11, WT1 mutations, or loss and 2nd hit

Group 3 is non-WT1, possibly WT2; IGF2

NOTE THAT THE VAST MAJORITY (90%) OF WILMS TUMOR PTS ARE SPORADIC CASES

64
Q

In terms of WAGR syndrome wilms tumors, the most commonly observed GU malformation in affected males is ________, whereas females may be affected by ______

A

Undescended testes; streak gonads or uterine malformation

65
Q

Denys Drash syndrome pts with Wilms tumor also often have what other type of tumor?

A

Gonadal tumors

66
Q

Beckwith Wiedemann pts with Wilms tumor also often have what 2 other syndromic associations?

A

Hemihypertrophy

Macroglossia

67
Q

Histopathology of Wilms tumor

A

Many associated with nephrogenic rests (precursor lesion) — note that when these are present, additional tumors or bilaterality are distinct possibilities

Typical triphasic (favorable) histomorphology: mimics germinal development of normal kidney with 3 cell types — blastemal, epithelial (tubules), and stromal; no significant anaplasia

Anaplastic (unfavorable) histomorphology: may be focal or diffuse (extreme cellular pleomorphism and atypia); note that focal anaplasia does not always confer poor prognosis but diffuse does! Anaplasia tends to be associated with p53 mutations and resistance to chemotherapy

68
Q

Gross appearance of wilms tumor

A

Well-circumscribed margins

Tan-to-gray color

Large, expansile tumor in lower pole of kidney

69
Q

Most critical prognostic element in wilms tumor

A

Presence or absence of DIFFUSE ANAPLASIA

[note that today, wilms tumor is curable in majority of children; other prognostic factors include histologic elements and stage at dx as well as p53, 11q, and 16q deletions, 1q gain; older age tends to have better prognosis]

70
Q

Metastatic disease TO the kidney is uncommon but often a terminal event. It is frequently multifocal and bilateral. Cancers of what organs tend to metastasize to the kidneys?

A 
Lung
Melanoma
Breast
GI
Pancreas

CPR EXAM 2 (52 decks)

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