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Kidney syndromes

Physiology
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Kidney

syndrome

Primary affected

site

Channel

Genetics

Acidosis 

/ alkalosis

Fanconi

syndrome 

Proximal convoluted

tubule (PCT)

-

-

Metabolic

acidosis

Bartter

syndrome 

Thick ascending loop

of henle (TAL)

Na-K-2Cl 

Autosomal

recessive 

Metabolic

alkalosis 

Gitelman’s

syndrome

Distal convoluted

tubule (DCT)

Thiazide sensitive NCCT

(Na-Cl cotransporter)

Autosomal

recessive 

Metabolic

alkalosis 

Liddle

syndrome 

Collecting duct

(CD)

ENaC

(Epithelial sodium channel) 

Autosomal

dominant

Metabolic

alkalosis 





Fanconi syndrome 

Bartter syndrome 

Gitelman syndrome 

Liddle syndrome 

Proximal convoluted

tubule (PCT)

Thick ascending

loop of henle (TAL)

Distal convoluted tubule

(DCT)

Collecting duct (CD)

-

Na-K-2Cl

Thiazide sensitive NCCT

(Na-Cl cotransporter)

Gain of function of ENaC

(Epithelial sodium channel)

-

Autosomal recessive 

Autosomal recessive 

Autosomal dominant (AD)

Metabolic acidosis 

Metabolic alkalosis

Metabolic alkalosis 

Metabolic alkalosis