APKD Flashcards
Group of genetically heterogeneous disorders and a leading cause of kidney failure
Polycystic Kidney Disease
The most common life-threatening monogenic disease
autosomal dominant form of polycystic kidney disease (ADPKD)
Characterized by PROGRESSIVE FORMATION OF EPITHELIAL LINED CYSTS IN THE KIDNEY
ADPDK
The MC phenotype shared by many ciliopathies
kidney cysts
Frequent symptom in ~60% of patients with ADPKD
back or flank pain
Risk factors in ESRD progression in ADPKD
early diagnosis of ADPKD hypertension gross hematuria multiple pregnancies large kidney size
The MC extrarenal complication
liver cysts derived from the biliary epithelia
Sufficient for diagnosis among at-risk subjects between 15 and 29 years of age with a sensitivity value of 96% and specificity value of 100%
presence of at least 2 renal cysts (unilateral or bilateral)
More sensitive than ultrasonography and can detect cysts of smaller size
CT scan and T2-MRI, with and without contrast enhancement
Specific treatment strategies to ADPKD
slowing renal disease progression
lowering cardiovascular risk
Responsible for all the clinical presentations of ARPKD
PKHD1