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Author Topic: Differentiating between Fanconis syndrome and Gitelmans syndrome
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Post Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 14, 2011, 15:12
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How would you distinguish between these 2 syndromes, given that both would lead to relatively low blood pressures and potassium wasting in the urine?

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Post Re: Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 14, 2011, 15:15
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Most patients with Fanconi's syndrome will lose a tremendous amount of sodium and potassium in the urine, since 85-90% of re-absorption of both ions occurs in the proximal tubule. Although not as severe as Fanconi's syndrome, patients with Gitelman's syndrome can have sodium and potassium wasting as well, leading to mild hypotension and hypokalemia.

However, there are other species that are also re-absorbed in the proximal tubule that will be lost in the urine in Fanconi's syndrome, and not in Gitelman's. The biggest would be glucose. Patients with Fanconi's syndrome would have normal serum glucose levels (as in Gitelman's syndrome) but have glycosuria (not seen in Gitelman's).

I think this would be the best method of distinguishing the two syndromes. Here's a link to a good review on Gitelman's syndrome.

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Post Re: Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 16, 2012, 13:41
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Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic alkalosis with hypocalciuria, and hypomagnesemia and caused by loss of function mutations of the thiazide-sensitive sodium-chloride symporter (also known as NCC, NCCT, or TSC) located in the distal convoluted tubule.
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Post Re: Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 16, 2012, 14:38
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wouldnt the ph level be elevated in this case?

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Post Re: Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 16, 2012, 20:13
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Here's a nice summary article that details all the biochemical abnormalities found in Gitelmans syndrome.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518128/pdf/1750-1172-3-22.pdf

Yes, the serum pH would be elevated in Gitelmans syndrome.

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