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  #1  
Old 09-24-2012
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DNA WT-1 Gene Suppression

A 3 yr old male child presented to the physician for evaluation by his parents....their complaints are he is unable to reach milestones as per age and decreased urine frequency/day since 2 months..on further examination physician notifies hypoplastic gonads in the child and there is no abnormalities with facial features, eyes and ears but has his B.P- 130/80mmhg...on genetic analysis physician finds the baby has suppression of WT-1 gene...
what is the diagnosis a physician could suspect of?

a) wilms tumor
b) WAGR complex
c) beckwidh weidmann syndrome
d) denys drash syndrome
e) normal child with temper tantrums
f) child abuse
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Old 09-24-2012
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Default D. denys drash syndrome

I am confused between C and D. As don't know anything about them.
But if i have to give one answer will go with D.
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Old 09-24-2012
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my asnwer D
pseudohermaphroditism + wilms tumor
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Old 09-24-2012
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Default source - google

Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of congenital nephropathy, Wilms tumor, and intersex disorders resulting from mutations in the Wilms tumor suppressor (WT1) gene. Nephropathy is a constant feature; in the incomplete forms of the syndrome, the nephropathy is present with either Wilms tumor or intersex disorders, but the vast majority of patients with Denys-Drash syndrome are destined to develop Wilms tumor in any residual renal tissue.


The characteristic nephropathy in Denys-Drash syndrome is termed diffuse mesangial sclerosis. This condition clinically manifests as an early onset nephrotic syndrome and progresses to renal failure during the first 3 years of life. Among the intersex disorders, pure gonadal dysgenesis with male pseudohermaphroditism is the classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered.
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Old 09-24-2012
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Ans: D
WARG should have Absent iris( aniridia); Beck Wiedemann Syndrome should have enlarged body organs and hemihypertrophy of extremeties. Denys drash syndrome has a triad of Wilms tumor; Nephropathy and Gonadal dysgenesis.
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Old 09-25-2012
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Correct Answer D is right

yes, the correct answer is D) denys drash syndrome

WT1 is tumor suppressor gene associated with wilms tumor in children.it normally regulates nuclear trancription activity...all the following options are associated with wilm's tumor

wilms tumor------oliguria,painful mass,hypertension(due to renin) in early childhood(4-6yrs)

WAGR complex----Wilms tumor,Anirides(absent iris),Genitourinary anomalies(hypoplastic gonads can be seen..,but no visual abnormalities is given in question) ,Retardation

Beckwith-Weidmann syndrome-----Wilms tumor, hemihypertrophy of extremities, enlarged body organs in size

Denys Drash syndrome-------Wilms tumor(with WT1 gene expression), intersexual disorders(pseudohermaphrodites), acute tubular necrosis leading to oliguria

normal child with temper tantrums-------most commonly present with nocturia(regression)....not oliguria

child abuse-----oliguria is not associated.......may be associated with chronic child neglect.....
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  #7  
Old 09-25-2012
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Default Nice question

Quote:
Originally Posted by venky2600 View Post
yes, the correct answer is D) denys drash syndrome

WT1 is tumor suppressor gene associated with wilms tumor in children.it normally regulates nuclear trancription activity...all the following options are associated with wilm's tumor

wilms tumor------oliguria,painful mass,hypertension(due to renin) in early childhood(4-6yrs)

WAGR complex----Wilms tumor,Anirides(absent iris),Genitourinary anomalies(hypoplastic gonads can be seen..,but no visual abnormalities is given in question) ,Retardation

Beckwith-Weidmann syndrome-----Wilms tumor, hemihypertrophy of extremities, enlarged body organs in size

Denys Drash syndrome-------Wilms tumor(with WT1 gene expression), intersexual disorders(pseudohermaphrodites), acute tubular necrosis leading to oliguria

normal child with temper tantrums-------most commonly present with nocturia(regression)....not oliguria

child abuse-----oliguria is not associated.......may be associated with chronic child neglect.....
Again a nice question to compare few similar possibilities.
But i after reading explanation i was wondering-
WT-1 is a tumor suppressor gene right? causes wilms tumor
but you wrote
In DDS there is WT-1 gene expression. Is that mean in beckwith syndrome we have wilms tumor without WT-1 expression?
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Quote:
Originally Posted by koolkiller88 View Post
Again a nice question to compare few similar possibilities.
But i after reading explanation i was wondering-
WT-1 is a tumor suppressor gene right? causes wilms tumor
but you wrote
In DDS there is WT-1 gene expression. Is that mean in beckwith syndrome we have wilms tumor without WT-1 expression?

Denys Drash syndrome-------Wilms tumor(with WT1 gene suppression)

it's a typo

beckwith weidmann disease doesn't express WT1 gene suppression.....it occurs mostly sporadically or by imprinting of 11 chromosome(same chromosome as wilms)
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Old 09-25-2012
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Quote:
Originally Posted by venky2600 View Post
Denys Drash syndrome-------Wilms tumor(with WT1 gene suppression)

it's a typo

beckwith weidmann disease doesn't express WT1 gene suppression.....it occurs mostly sporadically or by imprinting of 11 chromosome(same chromosome as wilms)
Oh thanks for the new info! All I remember of Beckwith is the hemihypertrophy it causes!
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Quote:
Originally Posted by dockhi View Post
Oh thanks for the new info! All I remember of Beckwith is the hemihypertrophy it causes!
k...google it you can get more...but high yield is hemihypertrophy and wilms tumor with hypoglycemia i think....
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Old 09-25-2012
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Quote:
Originally Posted by venky2600 View Post
Denys Drash syndrome-------Wilms tumor(with WT1 gene suppression)

it's a typo

beckwith weidmann disease doesn't express WT1 gene suppression.....it occurs mostly sporadically or by imprinting of 11 chromosome(same chromosome as wilms)
ya make sense but 1 more question
WT-1 is a tumor suppressor gene. So depend on 2 hit hypothesis.
1 genetic factor and 1 sporadic factor.
So according to above statement expression of wilm's tumor in beckwith syndrome is just dependent on sporadic factor???

May be i am going mad
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Post

Quote:
Originally Posted by koolkiller88 View Post
ya make sense but 1 more question
WT-1 is a tumor suppressor gene. So depend on 2 hit hypothesis.
1 genetic factor and 1 sporadic factor.
So according to above statement expression of wilm's tumor in beckwith syndrome is just dependent on sporadic factor???

May be i am going mad
nice doubt indeed.......in BWS sporadic cases no two hit hypothesis is seen(from google)
i'm not much deep into this one to know it dude.....
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Old 09-26-2012
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Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of congenital nephropathy, Wilms tumor, and intersex disorders resulting from mutations in the Wilms tumor suppressor (WT1) gene. Nephropathy is a constant feature; in the incomplete forms of the syndrome, the nephropathy is present with either Wilms tumor or intersex disorders, but the vast majority of patients with Denys-Drash syndrome are destined to develop Wilms tumor in any residual renal tissue.

The characteristic nephropathy in Denys-Drash syndrome is termed diffuse mesangial sclerosis.This condition clinically manifests as an early onset nephrotic syndrome and progresses to renal failure during the first 3 years of life. Among the intersex disorders, pure gonadal dysgenesis with male pseudohermaphroditism is the classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered.
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