Discussion Board


Registration is recommended, but not required, to use the Nephrology On-Demand Discussion Board.


Welcome Guest 

Show/Hide Header

Welcome Guest, please login or register.

Pages: [1]
 ReplyRSS feed   
Author Topic: Differentiating between Fanconis syndrome and Gitelmans syndrome
Guest

Posts: 163
Permalink
Post Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 14, 2011, 15:12
Quote

How would you distinguish between these 2 syndromes, given that both would lead to relatively low blood pressures and potassium wasting in the urine?

Nurse Practitioner

Guest

Posts: 163
Permalink
Post Re: Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 14, 2011, 15:15
Quote

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.

Faculty

Guest

Posts: 163
Permalink
Post Re: Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 16, 2012, 13:41
Quote

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.

Guest

Posts: 163
Permalink
Post Re: Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 16, 2012, 14:38
Quote

wouldnt the ph level be elevated in this case?

buy facebook fans

Guest

Posts: 163
Permalink
Post Re: Differentiating between Fanconis syndrome and Gitelmans syndrome
on: July 16, 2012, 20:13
Quote

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.

Quick Reply:


Enter Security Code: (required)
Pages: [1]
 ReplyRSS feed   
Mingle Forum by cartpauj
Version: 1.0.34 ; Page loaded in: 0.021 seconds.


Share