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Discussion Starter · #1 ·
An elderly man with known proximal renal tubule dysfunction presents to your office for evaluation of the etiology if this problem. Included on your differential diagnosis are renal tubule acidosis type II, isolated hypouricemia, and Fanconi syndrome. You know that for Fanconi syndrome there is a decrease is Na/K ATPase in the proximal renal tubule. You test the urine for abnormalities. If the patient has Fanconi's anemia, which of the following would you expect?

A) High levels of chloride, no glucose or amino acids
B) High levels of chloride and calcium, no glucose or amino acids
C) High levels of sodium and glucose, no amino acids
D) High levels of glucose and amino acids
E) No effect
 

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Fanconi's syndrome and Fanconi's anemia are two different entities. Fanconi's anemia is a type of inherited immunodeficiency and dysfunction of DNA repair and is found in children (thus, it's not expected in an elderly pt).

Fanconi's syndrome affects indeed the PCT and results in secretion of glucose, aminoacids, uric acid, phosphate and HCO3- through the PCT, instead of reabsorption that normally happens in this portion of the nephron. A possible cause of Fanconi's syndrome may be the consumption of expired tetracyclines.

So, answer D must be the correct one.
 

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Discussion Starter · #3 ·
ya u r absolutely correct..... but y did they give the word "fanconi anaemia" in last sentence???
they want us to assume that the pt is having fanconi anaemia:rolleyes: (If the patient has Fanconi's anemia, which of the following would you expect?).....
i literally had to read Q 3 times....:redcheeks;...was bit confusing for me....:eek:
 

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I don't think that an individual with Fanconi anemia would make it to be an elderly one; pt's with Fanconi anemia are expected to live up to their 20's at most.

On the other hand, there is no specific renal disturbance in Fanconi anemia, except, let's say, when the pt suffers from paraproteinemia in the context of a secondary hematologic malignancy; then one should expect paraproteinuria or findings of intrinsic acute renal failure (low urine osmolarity and high urine sodium concentration).

Nevertheless, I believe this must be some kind of typing error.
 

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Discussion Starter · #5 ·
thanks

I don't think that an individual with Fanconi anemia would make it to be an elderly one; pt's with Fanconi anemia are expected to live up to their 20's at most.

On the other hand, there is no specific renal disturbance in Fanconi anemia, except, let's say, when the pt suffers from paraproteinemia in the context of a secondary hematologic malignancy; then one should expect paraproteinuria or findings of intrinsic acute renal failure (low urine osmolarity and high urine sodium concentration).

Nevertheless, I believe this must be some kind of typing error.
ya....it must be an error...
thanks for ur explanation....ur basics r quite clear...:D
 
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