Recessive Polycystic Kidney Disease

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1. Which one of the the following is true about the recessive polycystic kidney disease:  

a. It is also called infantile polycystic renal disease

b. It is characterized by cystic dilation of the renal tubules

c. It is often associates with congenital hepatic fibrosis.

d. It is commonly prenatally visualized, but it can have a later manifestation in some cases

e. All of the above

 

2. A third trimester ultrasound in infantile polycystic kidney usually can reveal the following, except:

a. Multiple microcysts

b. Hyperechogenic kidney

c. Oligohydramnios

d. Normal shaped kidney

e. Small dysplastic kidneys

 

3. Recessive polycystic kidney disease:  

a. is characterised by unilateral symmetrical enlargement of the kidneys

b. occurs approximately in 1:10,000 births

c. is an autosomal dominant disorder

d. liver changes including bile ductal proliferation with portal fibrosis are also present

e. has never been demonstrated in the first trimester

 

4. The diagnosis of recessive polycystic kidney disease includes

a. Loss of corticomedullary differentiation

b. Bilateral renal enlargement

c. Oligohydramnios

d. Absent of urinary bladder

e. All of the above

 

5. The recurrence risk in a case of infantile polycystic kidney disease is

a. 25%

b. 50%

c. 75%

d. 100%

e. unknown

 

6. All of the the following are important in the differential diagnosis of infantile polycystic kidney disease except:

a. Autosomal dominant polycystic kidney disease

b. Tuberous sclerosis

c. Beckwith-Wiedemann

d. Hydronephrosis

e. Meckel-Gruber

 

7. All of the following are complications of recessive polycystic kidney disease, except

a. Hypertension

b. Renal failure

c. Hepatic fibrosis

d. Hydronephrosis

e. Portal hypertension

 

8. All of the following is true in the genetics of infantile polycystic kidney disease, except

a. appears to be genetically homogeneous

b. is caused by a single gene with multiple mutant allele that leads to different degrees of renal and hepatic involvement with very different phenotypes

c. the gene location for autosomal recessive polycystic kidney disease is located on chromosome 6p21

d. prenatal DNA diagnosis is not available in the first trimester

e. families at risk should have blood samples collected for DNA analysis prior to comtempling a future pregnancy

 

9. Which one of the following is true about the prognosis of the recessive polycystic kidney disease

a. depends on the gestational age at which renal changes become visible

b. depends on the presence of oligohydramnios

c. is much better if they survive beyond the neonatal period

d. the mortality is high during the first year of life

e. all of the above

 

10. Which of the following is true about the infantile polycystic kidney disease

a. The recurrence risk is unknown

b. It has an high risk for associated malformations

c. Invasive fetal interventions have been developped for the treatment

d. The disease manifests first in infancy but it may present later

e. Long-term outcome of children escaping early failure is largely known.

 


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