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Renal > Cystic Kidney Disease > Flashcards

Cystic Kidney Disease Flashcards

1
Q

Name the types of cystic kidney disease

A 
Hereditary 
Hereditary polycystic kidney diseases
•	ADPKD
•	ARPKD
Cystic diseases of the renal medulla
•	Medullary cystic disease and nephronophthisis
•	Medullary sponge kidney
Miscellaneous hereditary renal cystic disorders
•	Tuberous sclerosis
•	Von Hippel-Lindau Disease

Developmental
• Agenesis (failure to develop) of one kidney
• Hypoplastic (incomplete development) kidneys
• Renal dysplasia: disordered anatomic and histologic structure

Acquired
• CKD
• Dialysis
• Aging (Cysts usually in proximal tubules, benign, < 3 cm size)

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2
Q

Explain the pathogenesis of cyst formation

A

o Normal growth: balance between cell proliferation and apoptosis
o Polycystic kidneys: dysregulated processes → cysts form with undifferentiated or immature epithelia
o Increased burden of apoptosis → destroys functional parenchyma, allows cystic epithelia to proliferate
o BM next to cyst thickens
o Inflammatory cells in interstitium
o Cyst may separate or stay attached
o Transepithelial fluid secretion → fluid accumulates in cyst
o In hereditary disease:

• Na+/K+ ATPase pump abnormally on apical membrane (instead of basolateral) → fluid secretion

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3
Q

Autosomal Dominant PKD: Inheritance

A

Autosomal dominant
-Most common type of hereditary kidney disease worldwide

  • PKD-1 (85% cases) = on chromosome 16; codes for Polycystin-1 (membrane receptor in adherens junctions and focal adhesions); more severe form
  • PKD-2 (15%) = on chromosome 4; Polycystin-2 (transmembrane Ca2+ ion channel); less severe form
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4
Q

Autosomal Dominant PKD: Age of onset

A

30-50

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5
Q

Autosomal Dominant PKD: Clinical Signs

A

-Variable presentation

Renal symptoms:

  • Cysts anywhere in nephron
  • Bilaterally and uniformly cystic and enlarged kidneys
  • Hematuria (microscopic or gross)
  • Decreased urine concentration → Nocturia
  • HT (RAAS activation due to stretched arterioles)
  • Flank pain (acute or chronic) from stones (20-30%; uric acid & oxalate) or cysts increasing in size or rupture
  • UTI/ pyelonephritis
  • Polycythemia (from increased EPO production)
  • Anemia

Non-renal symptoms:

  • GI: colonic diverticula, abdominal wall hernia
  • Liver cysts (50%), usually benign; normal liver function tests
  • Subarachnoid hemorrhage: berry aneurysm
  • Mitral valve disease
  • Drooping upper eyelids
  • Seminal vesicle, pancreatic, splenic cysts
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6
Q

Autosomal Dominant PKD: Mean age of progression

A

PKD1: 53 yrs
PKD2: 69 yrs

Factors affecting progression rate:

  • Gene involved
  • Male gender
  • HT
  • UTI’s
  • Drugs (NSAIDs
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7
Q

Autosomal Dominant PKD: diagnosis

A
  • Family history
  • UA, serum creatinine, anemia, polycythemia
  • Imaging: US, CT, MRI:

• 60: 4 cysts/ kidney
-Genetic testing: living-related kidney donors, equivocal imaging, desire to know

-If no cyst at age 30 = no risk of disease

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8
Q

Autosomal Dominant PKD: treatment

A

-No curative treatment

Pre-ESRD:

  • BP and proteinuria control
  • ACEI/ARB to prevent hyper-filtration/ fibrosis
  • Avoid contact sports

ESRD:

  • Transplantation
  • Dialysis
  • Nephrectomy
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9
Q

Autosomal Recessive PKD: Inheritance

A

Autosomal recessive, with variable expression

  • PKDH-1 on chromosome 6; codes for Fibrocystin (transmembrane protein)
  • Mutation → abnormal C-terminal, affects intracellular signaling
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10
Q

Autosomal Recessive PKD: Age of onset

A

-Childhood (1st year of life)

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11
Q

Autosomal Recessive PKD: Clinical Signs

A
  • Fusiform dilation of collecting ducts
  • Liver cysts, fibrosis, dilation, hyperplasia of bile ducts → portal HT
  • Periportal fibrosis, lung abnormalities (pulmonary hypoplasia)
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12
Q

Autosomal Recessive PKD: Mean age of progression

A

-High mortality (9-24% die within 1st yr)

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13
Q

Autosomal Recessive PKD: Diagnosis

A

-US (antenatal in severe cases)

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14
Q

Autosomal Recessive PKD: Treatment

A
  • Supportive
  • Control HT (ACEI, CCB, BB, diuretics)
  • Dialysis
  • Transplantation
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15
Q

Nephronophthisis (NPHP): Inheritance

A

Autosomal Recessive

  • 8 genes: NPHP 1-8
  • Codes for protein Nephrocystin
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16
Q

Nephronophthisis (NPHP): age of onset

A

Childhood

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17
Q

Nephronophthisis (NPHP): Clinical signs

A
  • Impaired urinary concentrating ability
  • Disruptions of tubular BM
  • Tubulointerstitial fibrosis and renal cysts
  • Salt and water wasting
  • Medullary cysts
  • HT
  • Growth retardation
  • Small kidneys
  • Anemia

Extra renal:

  • Hepatic fibrosis
  • Retinal Disease
  • Bone Disease
18
Q

Nephronophthisis (NPHP): mean age of progression

A

Before age 20

19
Q

Nephronophthisis (NPHP): treatment

A
  • Dialysis

- Transplantation

20
Q

Medullary Cystic Kidney Disease (MCKD): inheritance

A 
Autosomal dominant (Rare)	
-Chromosomal 1q21 and 16p12
21
Q

Medullary Cystic Kidney Disease (MCKD): age of onset

A

Early adulthood

22
Q

Medullary Cystic Kidney Disease (MCKD): clinical signs

A
  • Impaired urinary concentrating ability
  • Disruptions of tubular BM
  • Tubulointerstitial fibrosis and renal cysts
  • Salt and water wasting
  • Polyuria, polydipsia
  • Hyperuricemia and gout
  • Small kidneys
  • Medullary cysts
23
Q

Medullary Cystic Kidney Disease (MCKD): mean age of progression

A

Age 20-60

24
Q

Medullary Cystic Kidney Disease (MCKD): diagnosis

A
  • Family history
  • Clinical suspicion
  • US
  • Renal biopsy
  • Genetic testing
25
Q

Medullary Cystic Kidney Disease (MCKD): treatment

A
  • Dialysis

- Transplantation

26
Q

Medullary Sponge Kidney: inheritance

A

Hereditary (some autosomal dominant inheritance pattern) or Developmental
-Common disease

-More frequent in women

27
Q

Medullary Sponge Kidney: age of onset

A

-Average age of diagnosis = 27 years

28
Q

Medullary Sponge Kidney: clinical signs

A
  • Cystic dilation of terminal Collecting Duct (pericalyceal region, renal pyramids) = brush-like appearance
  • Typically diffuse and bilateral cysts
  • Most patients asymptomatic
  • Common complications: kidney stones, hematuria, UTI
29
Q

Medullary Sponge Kidney: mean age of progression

A
  • Benign course (NO progression to renal failure)
30
Q

Medullary Sponge Kidney: diagnosis

A
  • Accidental
  • Renal stones
  • Hematuria (microscopic)
  • UTIs
  • Decreased concentrating ability
31
Q

Medullary Sponge Kidney: treatment

A

-Symptomatic, based on complications

32
Q

Tuberous Sclerosis or TS Complex (TSC): inheritance

A
  • Autosomal dominant neurocutaneous disease
  • *Majority of cases due to new mutations
  • Mutation in hamartin or tuberin proteins
33
Q

Tuberous Sclerosis or TS Complex (TSC): age of onset

A

-Typically diagnose <7 years

34
Q

Tuberous Sclerosis or TS Complex (TSC): clinical signs

A
  • Hamartomeas and angiomyolipomas (tubers) deposited in body (skin, brain, kidneys, etc)
  • Benign tumors
  • Brain symptoms: seizures, mental retardation, adenoma sebaceum

Renal manifestations:

  • Angiomyolipomas: bilaterally, large amounts; when >4 cm → pain, bleeding into a lesion, hematuria
  • Benign cysts (20-30%)
  • HT (renin-dependent)
  • CKD
  • Renal cell carcinoma
35
Q

Tuberous Sclerosis or TS Complex (TSC): mean age of progression

A

Progressive disease:
-25% die <25 years

-Common causes of death: CNS tumors and kidney failure

36
Q

Tuberous Sclerosis or TS Complex (TSC): diagnosis

A

-Imaging: CT, US

37
Q

Tuberous Sclerosis or TS Complex (TSC): treatment

A
  • BP and renal function monitoring
  • Renal US or CT to monitor
  • Symptomatic treatment
  • Surgical resection of concerning tumors
38
Q

Von Hippel-Lindau Syndrome: inheritance

A
  • Autosomal dominant
  • Very rare
  • Gene on short arm of chromosome 3
  • Follows 2-hit model
39
Q

Von Hippel-Lindau Syndrome: clinical signs

A
  • Multiple visceral cysts: pheochromocytomas, liver, kidney, and pancreas cysts
  • Cysts = pre-malignant (40% develop clear-cell renal carcinoma)
  • hemangioblastomas of CNS and retina
40
Q

Von Hippel-Lindau Syndrome: mean age of progression

A

-High mortality (49 years)

41
Q

Von Hippel-Lindau Syndrome: diagnosis

A
  • CT, MRI, US = detect primary tumors

- Genetic testing

42
Q

Von Hippel-Lindau Syndrome: treatment

A
  • Regular renal surveillance

- Renal-sparing removal of renal mass (surgical treatment)

Renal (12 decks)

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