Nephrogenetics

What is the most common genetic cause of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

• PKD1 and PKD2 mutations
• NPHS1 and NPHS2 mutations
• ACTN4 mutations
• COL4A3 and COL4A4 mutations

Which of the following is a primary clinical manifestation of ADPKD?

• Hypercalcemia
• Hypertension
• Hypokalemia
• Hypotension

What percentage of ADPKD cases are attributed to mutations in the PKD1 gene?

• 0.15
• 0.5
• 0.75
• 0.85

Which extra-renal manifestation is commonly associated with ADPKD?

• Pulmonary fibrosis
• Hepatic cysts
• Pancreatic cysts
• Cardiac hypertrophy

What is the first-line treatment for managing hypertension in ADPKD patients?

• Calcium channel blockers
• ACE inhibitors or ARBs
• Beta-blockers
• Diuretics

Which gene mutation is most commonly associated with Focal Segmental Glomerulosclerosis (FSGS)?

• PKD1
• NPHS1
• COL4A5
• PKD2

What is the characteristic finding in a renal biopsy for a patient with FSGS?

• Diffuse glomerulosclerosis
• Segmental scarring of glomeruli
• Interstitial fibrosis
• Tubular atrophy

Which of the following is NOT a typical feature of nephrotic syndrome?

• Significant proteinuria
• Hypoalbuminemia
• Edema
• Hypercalcemia

Alport's syndrome is most commonly associated with mutations in which gene?

• COL4A5
• PKD1
• NPHS2
• ACTN4

Which clinical feature is commonly seen in patients with Thin Basement Membrane Disease (TBMD)?

• Proteinuria
• Persistent hematuria
• Hyperlipidemia
• Hearing loss