mediocre
Forum Elite
Topics: 37
Posts: 229
|
A 30-year-old woman presented with a history of nephrotic syndrome diagnosed when she was 4 years old. There was no family history of renal disease. An initial renal biopsy performed showed minimal-change disease. She was treated with steroids and was determined to be steroid-dependent. Subsequent trials of cyclosporin and cyclophosphamide failed to improve her condition and she was referred for additional evaluation.
She has a second renal biopsy. Light microscopic examination showed a patchy but striking vacuolar change in the renal tubular cells, with large nodular aggregates of foamy cells. Intracellular accumulation of several glycosphingolipids was suspected.
Which one of the following is likely?
. TuberculosisB. Diabetic nephropathy C. Glycogen storage disease D. Fibromuscular dysplasia E. Anderson Fabry disease
___________________
"Do not worry if you have built your castles in the air. They are where they should be. Now put the foundations under them." - Henry David Thoreau
|
| new_n_lost
Politically InCorrect
Topics: 650
Posts: 6,058
|
B. Diabetic nephropathy. >> judging from the second biopsy cos by exclusion the only other choice i could think of in under 60secs was Choice C but they would also represent with other issues wouldnt
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| Aashi
Forum Moderator
Topics: 112
Posts: 919
|
mediocre wrote:
Light microscopic examination showed a patchy but striking vacuolar change in the renal tubular cells, with large nodular aggregates of foamy cells. Intracellular accumulation of several glycosphingolipids was suspected.
Fabry disease----------------> Deficiency of alpha-galactosidase A---------------->Its deficiency leads to the intracellular accumulation of several glycosphingolipids------------->on light microscopy ,reveals enlarged, foamy-appearing podocytes and tubular epithelial cells------------------>E
Edited by Aashi on 01/21/08 - 03:13 PM
___________________
"Obstacles are those frightful things you see when you take your EYES off your goal."
|
| Ivonne
Forum Guru
Topics: 51
Posts: 1,394
|
Is it a different Fabry's? the one I remember is x linked recessive where females carriers are rarely affected because of random inactivation of x chromosome in each cell.
Don't shoot me moderators
___________________
If you beleive you can do it then you WILL DO IT!! (by Mymeghhi)
|
| new_n_lost
Politically InCorrect
Topics: 650
Posts: 6,058
|
Ivonne wrote:Is it a different Fabry's? the one I remember is x linked recessive where females carriers are rarely affected because of random inactivation of x chromosome in each cell.
Don't shoot me moderators
lol No Civilian targets 
Exactly my thoughts.. and if this is Fabry its very weird one like Fabio
Plus Fabry with a MCD at 4 yrs ???
Edited by new_n_lost on 01/21/08 - 03:47 PM
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| new_n_lost
Politically InCorrect
Topics: 650
Posts: 6,058
|
What i do know is this that Minimal Change disease progress into Focal Segmental GS. Now the lady had it since age 4 so anything can related to it can be possible. If it were Fabry then considering the possiblity of an atypical presentation there wouldnt be a childhood history.
Moi 2 Cents
Although i m sure Genius Girl with exotic scenery is gonna prove me wrong as always 
Edited by new_n_lost on 01/21/08 - 04:37 PM. Reason: Chked a grammer
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| Aashi
Forum Moderator
Topics: 112
Posts: 919
|
Ivonne wrote:Is it a different Fabry's? the one I remember is x linked recessive where females carriers are rarely affected because of random inactivation of x chromosome in each cell. Don't shoot me moderators
The answer to your q is in your question itself Ivonne, females are RARELY AFFECTED, but not 100% UNAFFECTED-------> yes its X linked reccessive, the altered gene is carried on a mother’s X chromosome, --------->sons have a 50 percent chance of INHERITING the disorder AND daughters have a 50 percent chance of being a carrier AND Some women who carry the genetic mutation may have SYMPTOMS of the disease
Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene
Edited by Aashi on 01/21/08 - 04:26 PM
___________________
"Obstacles are those frightful things you see when you take your EYES off your goal."
|
| Aashi
Forum Moderator
Topics: 112
Posts: 919
|
new_n_lost wrote:What i do know is this that Minimal Change disease progress into Focal Segmental GS. Now the lady had it since age 4 so anything can related to it can be possible. If it were Fabry then considering the possiblity of an atypical presentation there would be a childhood history.
Moi 2 Cents Although i m sure Genius Girl with exotic scenery is gonna prove me wrong as always
LOL
The S/S of Fabry disease usually begin later in life and are milder iIN FEMALES than in their affected male relatives.
I might be wrong in picking fabry's as an answer here, But i cant think of a better answer other than fabry's as a dx for the above question..
___________________
"Obstacles are those frightful things you see when you take your EYES off your goal."
|
| Ivonne
Forum Guru
Topics: 51
Posts: 1,394
|
You are right Aashi (as always ) and you made me read an article of Fabry's disease that fit the description in the Qstem and specially the biopsy and a recommendation that i wont forget:
If the family history suggests a diagnosis of Fabry disease, genetic testing and counseling should be offered to all family members, regardless of their sex. http://www.emedicine.com/neuro/TOPIC579.HTM
___________________
If you beleive you can do it then you WILL DO IT!! (by Mymeghhi)
|
| Tiff
Forum Guru
Topics: 54
Posts: 563
|
Ok. I was thinking something entirely different. I chose renal tuberculosis.
Presents again in like 20-25 years. And doesn't it have accumulated glycosphingolipids? And with renal TB aren't there phagocytic vacuoles?
|
| Misrati
Forum Junior
Topics: 10
Posts: 48
|
yes , E : only XR fabry's that fits the the scenario and GPL "ceramide trihhexoside" been accumulated .
|
| Tiff
Forum Guru
Topics: 54
Posts: 563
|
Glycosphingolipids may be present in TB but don't think they're accumulated. think that's a stretch and not the most obvious. Now, leaning towards Fabry's since it is certain that glycosphingolipids - ceramide trihexoside. Also since it's X-linked recessive, females could show absolutely no symptoms, mild symptoms, or severe and this patient may just be showing mild symptoms.
|
| new_n_lost
Politically InCorrect
Topics: 650
Posts: 6,058
|
Well someone will have to explain how does steriod dependent MCD since the age of 4 constitute as mild symptoms in Fabry cos thats the stretch someone will have to walk me thru.
Edited by new_n_lost on 01/23/08 - 07:45 AM
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| jerker
Forum Newbie
Topics: 0
Posts: 12
|
steroids dependent since age 4.why cant lead to diabetes at this age now??
|
|
| |
| | | | | | | | | | | | | | |
