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Genetics
Signs and Symptoms
Molecular Complications
Labs/Imaging
Misc
100
The extent to which a particular gene or set of genes is expressed in the phenotypes of individuals carrying it
What is penetrance?
100
Most common symptoms include
What is flank/abdominal pain, hypertension, hematuria, UTI, kidney stones
100
Gene that causes 15% of cases
What is PKD2?
100
Definitive diagnosis of ADPKD made by this
What is CT/US and/or molecular genetic testing?
100
Reason for later onset
What is progressive kidney failure secondary to cyst growth
200
Chance of a child with one dominant parent inheriting a mutation
What is 50%?
200
Intercellular calcium is responsible for this major cell function
What is cascading signaling pathways?
200
The reason cysts are visible on ultrasounds
What is dark pockets due to sound waves non reflection on fluid?
200
PKD affects this structure in the nephron
What is the renal tubule?
300
Disease whereby PKD is inherited by 2 non dominating alleles?
What is Autosomal recessive PKD?
300
Cause of nail abnormalities in ADPKD patients
What is buildup of nitrogen due to reduced kidney function?
300
The primary signaling affected that disrupts calcium levels
What is cilia mediated signaling?
300
Elevated BUN would be seen in this type of diet
What is the Atkins/Paleo diets (high protein)
300
Why GFR is the best method for early renal damage detection
What is blood urea nitrogen (BUN) and creatinine will not be raised above the normal range until 60% of total kidney function is lost
400
Percent elevated risk of stroke in patient with ADPKD and family history of hemorrhage?
What is 40% higher?
400
The reason ACE inhibitors are an effective treatment for symptoms of PKD
What is hypertension due to the activation of RAAS?
400
Interactions of these two proteins formed by PKD1 disrupt renal function
What is polycystin 1 and 2?
400
Compounding factor in elevated creatinine
What is ACE inhibitor use (increases levels)
400
PKD1 lies on this chromosome
What is 16?
500
Family donors for living kidney transplantation are more common in this form of PKD
What is Autosomal recessive (more likely to be disease free)
500
The reason mutations in PKD1/2 cause the most significant brain complications
What is brain hemorrhages via cerebral aneurysms due to weaker vessel walls as PKD1/2 play a role in maintaining vessel structure
500
Why cysts are commonly found in the liver and beyond as PKD progresses.
What is the existence of PKD1 in all cells?
500
The effect on GFR when hydralazine (vasodilator) is used to treat the elevated BP of ADPKD patients
What is increase GFR?
500
The most sensitive marker of proteinuria
What is elevated urine albumin