[MCQ] Polycystic Kidney Disease and Other Inherited Tubular Disorders- Part 1

I. Start the exam by click the “Start” button

See all quizzes of Polycystic Kidney Disease and Other Inherited Tubular Disorders at here:

Polycystic Kidney Disease and Other Inherited Tubular Disorders- Part 1| Polycystic Kidney Disease and Other Inherited Tubular Disorders- Part 2

1. Which of the following statements is false about polycystic
kidney disease ?
A. ADPKD is seen predominantly in childhood
B. ARPKD is mainly a disease of adults
C. They infrequently cause kidney failure
D. All of the above

2. Which of the following statements about ‘Autosomal dominant
polycystic kidney disease (ADPKD)’ is false ?
A. ADPKD-1 gene is on chromosome 16p13.3
B. ADPKD-2 gene is on chromosome 4q21-23
C. Cysts are distributed throughout cortex & medulla
D. Erythropoietin production is low

3. Which of the following statements about ‘Autosomal dominant
polycystic kidney disease (ADPKD)’ is false ?
A. Standard diagnostic criteria is at least 3 to 5 cysts in each kidney
B. Cysts may be found in brain, thyroid
C. Mitral valve prolapse found in 25% of patients
D. Intracranial aneurysms present in 5 to 10 % of patients
4.  Which of the following is a PKD-1 encoded protein ?
A. Fibrocystin
B. Polycystin-1
C. Caveolin 3
D. FMR-1 protein

5.  In ADPKD, cyst formation begins ?
A. In utero
B. In early childhood
C. In adoloscence
D. In adulthood

6.  What percentage of total nephrons are involved in ADPKD ?
A. < 1 %
B. < 2 %
C. < 3 %
D. < 5 %

7. Extrarenal manifestation of ADPKD is ?
A. Intracranial aneurysm
B. Cardiac valvular abnormalities
C. Colonic diverticulae
D. All of the above

8. In ADPKD, cysts can also develop in ?
A. Liver
B. Pancreas
C. Arachnoid membranes
D. All of the above

9.  Diagnostic criteria for ADPKD in young include ?
A. >=2 in one & 1 cysts in other kidney
B. >=3 in one & 1 cysts in other kidney
C. >=2 in one & 2 cysts in other kidney
D. >=3 in one & 2 cysts in other kidney

10.  Diagnostic criteria for ADPKD in > 60 year old include ?
A. >=1
B. >=2
C. >=3
D. >=4

11.  Autosomal recessive polycystic kidney disease (ARPKD) gene is called ?
A. ARPKD-1
B. ARPKD-2
C. PKHD1
D. PKHD2

12.  Protein expressed by PKHD1 is termed ?
A. Nephrocystin
B. Inversin
C. Fibrocystin
D. Polycystin-3

13.  Fibrocystin is found in ?
A. Cortical & medullary collecting ducts
B. Thick ascending limb of Henle’s loop
C. Biliary & pancreatic duct epithelia
D. All of the above

14.  Which of the following statements about ‘Autosomal recessive polycystic kidney disease (ARPKD)’ is false ?
A. Distal tubules & collecting ducts are dilated
B. Portal hypertension & esophageal varices are frequent
C. Unilateral abdominal mass is common
D. Death in neonates is due to pulmonary hypoplasia
Enlarged kidneys are detected soon after birth as bilateral abdominal masses.
15.  Which of the following is the most common genetic cause of ESRD in childhood ?
A. Autosomal recessive polycystic kidney disease
B. Medullary sponge kidney (MSK)
C. Bartter’s syndrome
D. Nephronophthisis (NPHP)

16.  Senior-Loken syndrome, besides juvenile nephronophthisis, best relates to ?
A. Intracranial aneurysm
B. Retinitis pigmentosa
C. Colonic diverticulae
D. All of the above

17.  Presence of hyperuricemia and gout point towards the diagnosis of which of the following ?
A. Autosomal recessive polycystic kidney disease
B. Medullary cystic kidney disease 2
C. Bartter’s syndrome
D. Nephronophthisis (NPHP)

18.  Renal tuberous sclerosis (TS) may occur in which of the following forms ?
A. Renal cysts
B. Renal angiomyolipomas
C. Renal cell carcinoma
D. All of the above

19.  Deafness is invariably associated with which type of Bartter’s syndrome ?
A. Type 1
B. Type 2
C. Type 3
D. Type 4

20.  Which of the following is false for Bartter’s syndrome ?
A. Inherited as autosomal recessive trait
B. Due to abnormality in renal tubule transport proteins
C. Prostaglandin E production is low
D. Metabolic abnormalities similar to diuretic abuse

21. Hyperprostaglandin E syndrome is related to ?
A. Bartter’s syndrome
B. Gitelman’s syndrome
C. Liddle’s syndrome
D. All of the above

22.  Protein affected in Bartter’s syndrome is ?
A. NKCC2
B. ROMK
C. Barttin
D. All of the above

23.  Which of the following electrical situations occur in Bartter’s syndrome ?
A. Loss of lumen-positive electrical transport potential
B. Loss of lumen-negative electrical transport potential
C. Loss of cell-positive electrical transport potential
D. Loss of cell-negative electrical transport potential

24.  Gitelman’s syndrome is due to mutations in ?
A. Apical loop-diuretic sensitive Na-K-Cl co-transporter
B. Apical potassium channel
C. Thiazide-sensitive Na-Cl co-transporter (NCCT)
D. Basolateral chloride channel ClC-Kb

25. Gitelman’s syndrome is distinguished from Bartter’s syndrome by ?
A. Hypokalemia
B. Metabolic alkalosis
C. Elevated renin and aldosterone levels
D. Hypomagnesemia
26.  Gitelman’s syndrome is distinguished from Bartter’s syndrome by ?
A. Hypokalemia
B. Metabolic alkalosis
C. Elevated renin and aldosterone levels
D. Hypocalciuria