Wilms

Question 1

Denys-Drash

Gene Defect:Syndrome

Answer 1

Denys-Drash syndrome is a rare disorder characterized by early-onset nephropathy leading to renal failure, pseudohermaphroditism in males, and a high risk of developing Wilms Tumor. The gene defect associated with Denys-Drash syndrome is WT1, located on locus 11p13.

Question 1

Beckwith-Wiede mann Syndrome Clinical Characteristics: Gene Defect:

Answer 1

It’s commonly associated with macroglossia, omphalocele, visceromegaly, and hypoglycemia. The gene defect in Beckwith-Wiedemann syndrome is associated with WT2, specifically the loci IGF2 and H19.

Question 2

Clinical Vignette:
You have a 2-year-old patient whose younger sister was recently diagnosed with Fanconi anemia D1. The family is anxious about his risk for Wilms Tumor.

Multiple-Choice Options:
A) WT1
B) BRCA2
C) WT2
D) BUB1B

Answer 2

Correct Answer:
B) BRCA2

Explanation:
Fanconi anemia D1 is associated with a gene defect in BRCA2, as per the table.

Memory Tool:
“Fanconi-BRCA” - Fanconi anemia D1 has a gene defect in BRCA2.

Reference Citation:
Table 53.4, paragraph 1

Rationale for Question:
Understanding the specific gene defects related to each syndrome enables better genetic counseling and targeted treatment plans.

Question 3

Clinical Vignette:
A 1-year-old child with Perlman syndrome is brought to your clinic for evaluation. What should you counsel the parents regarding the genetic locus?

Multiple-Choice Options:
A) Locus 11p13
B) Locus 15q15
C) Locus is known
D) Locus is unknown

Answer 3

Correct Answer:
D) Locus is unknown

Explanation:
Perlman syndrome is associated with a high risk of developing Wilms Tumor, but the genetic locus is currently unknown, as per the table.

Memory Tool:
“Perlman-Perplexed” - We are still perplexed about the genetic locus for Perlman syndrome.

Reference Citation:
Table 53.4, paragraph 1

Rationale for Question:
The unknown genetic locus impacts the ability to provide complete genetic counseling, so it is important for healthcare providers to be aware of this.

Question 4

Clinical Vignette:
A 4-year-old male with Simpson-Golabi-Behmel syndrome comes to your clinic. His parents are concerned about the risk of developing Wilms Tumor.

Multiple-Choice Options:
A) Risk is 2%
B) Risk is 5%–10%
C) Risk is 10%
D) Risk is more than 20%

Answer 4

orrect Answer:
C) Risk is 10%

Explanation:
Simpson-Golabi-Behmel syndrome is associated with a 10% risk of developing Wilms Tumor in males, as per the table.

Memory Tool:
“Simp-“Ten”-“ - Simpson-Golabi-Behmel has a “Ten” percent risk for males.

Reference Citation:
Table 53.4, paragraph 1

Rationale for Question:
Gender-specific risk factors are crucial for proper counseling and risk assessment, especially in syndromes like Simpson-Golabi-Behmel where the risk is specific to males.

Question 5

orrect Answer:
C) Risk is 10%

Explanation:
Simpson-Golabi-Behmel syndrome is associated with a 10% risk of developing Wilms Tumor in males, as per the table.

Memory Tool:
“Simp-“Ten”-“ - Simpson-Golabi-Behmel has a “Ten” percent risk for males.

Reference Citation:
Table 53.4, paragraph 1

Rationale for Question:
Gender-specific risk factors are crucial for proper counseling and risk assessment, especially in syndromes like Simpson-Golabi-Behmel where the risk is specific to males.

Answer 5

orrect Answer:
C) Risk is 10%

Explanation:
Simpson-Golabi-Behmel syndrome is associated with a 10% risk of developing Wilms Tumor in males, as per the table.

Memory Tool:
“Simp-“Ten”-“ - Simpson-Golabi-Behmel has a “Ten” percent risk for males.

Reference Citation:
Table 53.4, paragraph 1

Rationale for Question:
Gender-specific risk factors are crucial for proper counseling and risk assessment, especially in syndromes like Simpson-Golabi-Behmel where the risk is specific to males.

Question 6

Clinical Vignette:
A 2-year-old boy is diagnosed with isolated hemihypertrophy. His parents are concerned about the risk of Wilms Tumor. What would be your counseling advice on the risk?

Multiple-Choice Options:
A) High risk (>20%)
B) Moderate risk (5%)
C) Moderate risk (5%–10%)
D) Low risk

Answer 6

Correct Answer:
C) Moderate risk (5%–10%)

Explanation:
Isolated hemihypertrophy falls under the moderate-risk category for developing Wilms Tumor, with a risk range of 5%–10%, according to the table.

Memory Tool:
“He-“Me”-hypertrophy” - The “me” represents a moderate (M) risk for Wilms Tumor.

Reference Citation:
Table 53.4, paragraph 1

Rationale for Question:
It’s essential to understand the risk category for conditions like hemihypertrophy, as these are less commonly associated with Wilms Tumor compared to other syndromes.

Question 7

Clinical Vignette:
A 3-year-old girl with Beckwith-Wiedemann syndrome is in your clinic. Her parents inquire about the genes involved in this syndrome. What would you tell them?

Multiple-Choice Options:
A) Only WT1 is affected
B) Both IGF2 and H19 are affected
C) Only BUB1B is affected
D) Both WT1 and WT2 are affected

Answer 7

Correct Answer:
B) Both IGF2 and H19 are affected

Explanation:
Beckwith-Wiedemann syndrome involves changes in the WT2 locus, specifically affecting the IGF2 and H19 genes, as per the table.

Memory Tool:
“Beck-“W2”-demann” - Think of W2 for Beckwith-Wiedemann, which corresponds to the IGF2 and H19 genes.

Reference Citation:
Table 53.4, paragraph 1

Rationale for Question:
Knowing the specific genes involved in a syndrome allows for targeted genetic testing and risk assessment.