Autosomal Dominant Polycystic Kidney Disease (ADPKD)

These flashcards cover key concepts and clinical details related to Autosomal Dominant Polycystic Kidney Disease (ADPKD), including definitions, genetic factors, clinical manifestations, and treatment options.

What is the definition of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

ADPKD is a multisystem disorder characterized by multiple, bilateral renal cysts and associated cysts in other organs, inherited in an autosomal dominant pattern.

Which genes are primarily affected in ADPKD?

Mutations in PKD-1 (on chromosome 16) and PKD-2 (on chromosome 4) affect the disease.

What is the prevalence of genetically affected individuals for ADPKD at birth?

1 in 400 to 1 in 1000.

What are common clinical manifestations of ADPKD?

Flank pain, hematuria, hypertension, nocturia, polyuria, and possible progression to end-stage renal disease (ESRD).

What is the role of polycystin-1 and polycystin-2 in ADPKD?

They function as a complex involved in cell signaling and maintaining renal tubular integrity; their dysfunction leads to uncontrolled cell proliferation.

How does PKD-1 mutation compare to PKD-2 in terms of disease severity?

PKD-1 mutations are more common and associated with a more aggressive form of the disease.

What is the most common manifestation of ADPKD?

Hypertension.

What is the average rate of decline in GFR for patients progressing to ESRD with ADPKD?

4.4 to 5.9 ml/min per year.

What complications may arise due to renal enlargement in ADPKD?

Compression of local structures, possibly leading to complications such as inferior vena cava (IVC) compression.

How does one diagnose ADPKD using renal ultrasound based on age?

Criteria vary by age: 2 cysts in each kidney for ages 40-59, and 4 or more for ages 60 and older.

What treatment is indicated for nephrolithiasis in ADPKD?

Treatment is similar to that for patients without ADPKD, usually through dietary changes, medications, or procedures as necessary.

What is the recommended approach for hypertension management in ADPKD?

ACE inhibitors or angiotensin receptor blockers (ARBs) are typically used to manage hypertension.