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Lecture title - Cystic Disease

14 important questions on Lecture title - Cystic Disease

What are the clinical features of ADPKD related to symptoms and renal dysfunction?

Clinical features of ADPKD include:
  • Asymptomatic until the 4th decade.
  • Pain as a symptom due to:
    • Compression of surrounding structures.
    • Rupture of cyst.
  • Heavy dragging sensation.
  • Features of renal dysfunction:
    • Proteinuria.
    • Generalized edema.
    • Hypertension.
    • Tachycardia and tachypnea.

What is the underlying defect in cystic diseases and how do renal cysts appear?

The underlying defect in cystic diseases is in the cilia-centrosome complex of tubular epithelial cells. Renal cysts almost always are avascular and have smooth contours compared to renal tumors and produce fluid. Types of cystic diseases include:
  • Multicystic renal dysplasia
  • Autosomal Dominant polycystic kidney disease (ADPKD)
  • Autosomal Recessive polycystic kidney disease (ARPKD)
  • Medullary Sponge Kidney (MSK)
  • Nephronophthisis-Medullary

What are the extrarenal manifestations of ADPKD in the GIT and CNS?

Extrarenal manifestations in ADPKD include:
  • GIT: Liver cysts, pancreatic cysts.
  • CNS:
    • Intracranial berry aneurysms.
    • Subarachnoid hemorrhage of aneurysm.
    • Headache and features of stroke.
    • Blood-stained CSF (lumbar puncture).
    • Saccular aneurysms of the circle of Willis.
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What gene mutation is associated with ARPKD and what does it code for?

ARPKD involves a mutation in the PKHD1 gene, which is considered a core gene. This gene codes for a putative membrane receptor protein known as Fibrocystin. The mutation leads to the formation of very small numerous cysts.

What are the cardiovascular and prognostic considerations in ADPKD?

Cardiovascular and prognostic considerations in ADPKD include:
  • CVS: Valvular anomalies.
  • Prognosis: Rule out VACTER-L.

Describe the types of Autosomal Polycystic Kidney Disease (APKD) and their characteristics.

Types of APKD depend on heritable factors:
  1. Autosomal Dominant:
    • Cysts are small and few at birth, start increasing in number and size, and show manifestations with age.
  2. Autosomal Recessive:
    • Oligohydramnios (less amniotic fluid), less common cause is PKD.

Describe the macroscopic morphology of ARPKD.

The macroscopic morphology of ARPKD includes:
  • Large kidney
  • Cysts visible on the internal surface
  • Spongy-like appearance

What are the genetic mutations associated with ADPKD and their effects?

ADPKD involves mutations of PKD1 and PKD2 genes:
  • 16p13.3 - PKD1 and 4q21 - PKD2
  • PKD1 mutation is most severe.
  • These genes help in the production of polycystin proteins.
Polycystins are part of 1° cilium, regulating orientation and maturation (differentiation) of cuboidal cells of nephron cells.

What is the pathophysiology of ADPKD related to mutations and cellular effects?

Pathophysiology of ADPKD involves:
  1. Mutations in polycystin 1, 2 or fibrocystin or nephrocystins.
  2. Altered mechanosensation by tubular cilia and altered Ca2+ influx.
  3. Altered tubular epithelial growth and differentiation.
  4. Abnormal ECM, Cell proliferation, Fluid secretion.
  5. Cyst formation which results in glomerular vascular damage and/or interstitial inflammation/fibrosis

What is the microscopic morphology feature of ARPKD?

The microscopic morphology of ARPKD is characterized by a decrease in the number of nephrons.

What is the morphology of kidneys affected by ADPKD?

Macroscopically, kidneys affected by ADPKD are very enlarged (4 kg each), with cysts (3-4 cm) and no intervening parenchyma. Fluid in cysts can be clear, turbid, or hemorrhagic. Features include:
  • Atrophic lining (from tubules to collecting ducts)
  • Glomerular tufts in cystic space
  • Normal parenchyma dispersed among cysts

What are the consequences of cyst formation in ADPKD?

Consequences of cyst formation in ADPKD include:
  • Cyst formation results in either glomerular vascular damage or interstitial inflammation/fibrosis.

List the clinical features associated with ARPKD.

Clinical features of ARPKD include:
  • Features of CKD
  • Liver cirrhosis
  • Liver and renal pathologies
  • Survivability is based on the presence or absence of VACTER-L

How does survivability in ARPKD relate to VACTER-L?

In ARPKD, survivability is based on the presence or absence of VACTER-L. This factor plays a crucial role in determining the outcome for individuals with the condition.

The question on the page originate from the summary of the following study material:

Systemic Pathology

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