WorksheetsNephrogenetics
Total questions: 20
Worksheet time: 10mins
Name
Class
Date
1.
What is the most common genetic cause of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
a)
PKD1 and PKD2 mutations
b)
NPHS1 and NPHS2 mutations
c)
ACTN4 mutations
d)
COL4A3 and COL4A4 mutations
2.
Which of the following is a primary clinical manifestation of ADPKD?
a)
Hypercalcemia
b)
Hypertension
c)
Hypokalemia
d)
Hypotension
3.
What percentage of ADPKD cases are attributed to mutations in the PKD1 gene?
a)
0.15
b)
0.5
c)
0.75
d)
0.85
4.
Which extra-renal manifestation is commonly associated with ADPKD?
a)
Pulmonary fibrosis
b)
Hepatic cysts
c)
Pancreatic cysts
d)
Cardiac hypertrophy
5.
What is the first-line treatment for managing hypertension in ADPKD patients?
a)
Calcium channel blockers
b)
ACE inhibitors or ARBs
c)
Beta-blockers
d)
Diuretics
6.
Which gene mutation is most commonly associated with Focal Segmental Glomerulosclerosis (FSGS)?
a)
PKD1
b)
NPHS1
c)
COL4A5
d)
PKD2
7.
What is the characteristic finding in a renal biopsy for a patient with FSGS?
a)
Diffuse glomerulosclerosis
b)
Segmental scarring of glomeruli
c)
Interstitial fibrosis
d)
Tubular atrophy
8.
Which of the following is NOT a typical feature of nephrotic syndrome?
a)
Significant proteinuria
b)
Hypoalbuminemia
c)
Edema
d)
Hypercalcemia
9.
Alport's syndrome is most commonly associated with mutations in which gene?
a)
COL4A5
b)
PKD1
c)
NPHS2
d)
ACTN4
10.
Which clinical feature is commonly seen in patients with Thin Basement Membrane Disease (TBMD)?
a)
Proteinuria
b)
Persistent hematuria
c)
Hyperlipidemia
d)
Hearing loss
11.
Which imaging technique is typically used to diagnose ADPKD?
a)
X-ray
b)
Ultrasound
c)
MRI
d)
CT scan
12.
What is the role of polycystin-1 and polycystin-2 in the kidney?
a)
Regulate sodium transport
b)
Form complexes in primary cilia
c)
Promote water reabsorption
d)
Stimulate erythropoietin production
13.
What is a common complication of ADPKD affecting the brain?
a)
Cerebral aneurysms
b)
Stroke
c)
Meningitis
d)
Brain tumor
14.
Which hormone is often involved in the management of hypertension in ADPKD?
a)
Aldosterone
b)
Vasopressin
c)
Renin
d)
Angiotensin II
15.
What is the prevalence of ADPKD in the general population?
a)
1 in 100
b)
1 in 500
c)
1 in 1000
d)
1 in 5000
16.
What protein abnormality is commonly associated with nephrotic syndrome?
a)
Albuminuria
b)
Hematuria
c)
Proteinuria
d)
Glucosuria
17.
What is the main structural change in the glomerulus in FSGS?
a)
Diffuse thickening
b)
Segmental sclerosis
c)
Global sclerosis
d)
Glomerular hypertrophy
18.
Which treatment is commonly used for FSGS?
a)
Antibiotics
b)
Corticosteroids
c)
Diuretics
d)
Antihypertensives
19.
What is the genetic basis of Alport's syndrome?
a)
X-linked
b)
Autosomal recessive
c)
Autosomal dominant
d)
Mitochondrial
20.
Which type of collagen is affected in Alport's syndrome?
a)
Type I
b)
Type II
c)
Type IV
d)
Type V
100 %
