Question 1

The majority of Polycystic kidney disease (PCKD) patients have what kind of genetic defect?&#10;A) PKD3&#10;B) PKD1&#10;C) PKD2&#10;D) PKD4

Accepted Answer

80 to 90% have the PKD1 genetic defect which encodes for the membrane protein polycystin-1.

Question 2

A 30-year-old African American male patient is being evaluated for the possible diagnosis of Polycystic kidney disease. What are the most common renal sequalae associated with the disease?&#10;A) Hypertension, fever, flank pain&#10;B) Hematuria, renal insufficiency, palpable mass&#10;C) Hypertension, flank pain, renal insufficiency&#10;D) Renal insufficiency, hematuria, palpable mass

Accepted Answer

Hypertension, flank pain, and renal insufficiency are the most common renal sequelae.

Question 3

The most common cause of mortality in those with polycystic kidney disease is which one of the following?&#10;A) Cardiovascular disease&#10;B) Renal disease&#10;C) Pulmonary complications&#10;D) Infection

Accepted Answer

Hypertension is the most common early manifestation. Long standing hypertension can lead to glomerular damage, kidney failure, aneurysms, cardiac valve disease and complications in pregnancy.

Question 4

Patients with polycystic kidney disease have an increased risk of kidney stones. Most common calculi found in Autosomal dominant polycystic kidney disease (ADPKD) patients are what type?&#10;A) Uric Acid&#10;B) Struvite&#10;C) Cystine&#10;D) Calcium Phosphate

Accepted Answer

Most calculi in patients with ADPKD consist of uric acid with or without calcium oxalate, most likely due to decreased excretion of ammonia, acidic urinary pH, and decreased citrate concentration.

Question 5

An ADPKD patient was concerned about the extra-renal manifestations that presents with polycystic kidney disease. Choose which is not one of the common extra-renal manifestations found in this disease.

A) Liver
B) Pancreas
C) Seminal vesicles
D) Lungs

Accepted Answer

Extra-renal manifestations may arise related to the liver, pancreas, seminal vesicles, arachnoid membrane, and spinal meninges.

Question 6

What is the most common valvular disorder seen in 25% of affected individuals with Autosomal dominant polycystic kidney disease (ADPKD)?&#10;A) Aortic Stenosis&#10;B) Mitral Valve Prolapse&#10;C) Mitral Stenosis&#10;D) Tricuspid Regurgitation

Accepted Answer

The most common valvular disorder is mitral valve prolapse, which is observed in 25% of affected individuals.

Question 7

By what means is the diagnosis of PCKD confirmed?&#10;A) Computed tomography (CT)&#10;B) Magnetic Resonance (MRI)&#10;C) Abdominal ultrasound&#10;D) Molecular genetic testing

Accepted Answer

Even though imaging is an invaluable tool, diagnosis of PCKD is confirmed by molecular genetic testing.

Question 8

Which one of the following is not what makes ARPKD distinguishable from ADPKD?&#10;A) They have different gross configurations&#10;B) They both have distinct microscopic pathology&#10;C) ARPKD have other mutations besides PKD1 and PKD2&#10;D) ARPKD patients do not have affected parents

Accepted Answer

Autosomal recessive polycystic kidney disease is associated with bilateral renal cysts that have a different gross configuration as well as a distinct microscopic pathology from those observed in the autosomal dominant variant. Those persons affected with ARPKD do not have affected parents. Collectively, these features make ARPKD distinguishable from ADPKD.

Question 9

What is the most common potentially lethal single-gene disorder in the United States?&#10;A) Autosomal dominant PCKD&#10;B) Autosomal recessive PCKD&#10;C) X-linked PCKD&#10;D) Mitochondrial PCKD

Accepted Answer

Inheritance of PCKD most commonly follows an autosomal dominant pattern, in which it is known as autosomal dominant polycystic kidney disease (ADPKD). This variant is the most common potentially lethal single-gene disorder in the United States, with a prevalence of 1 case in every 500 people.

Question 10

Routine evaluation after initial diagnosis of PCKD includes all of the following except?&#10;A) Monitoring blood pressure&#10;B) Evaluating renal function and structure&#10;C) Monitoring lung function&#10;D) Evaluating liver structure and blood lipids

Accepted Answer

Routine evaluation after initial diagnosis of PCKD includes monitoring blood pressure, evaluating renal function and structure, evaluating liver structure, evaluating blood lipids, and screening for valvular and aortic disease.

Deck 20: Polycystic Kidney Disease