FS - Fanconi Syndrome/Basenji

Race liée: 

Kidney failure

Description: 
Generalized proximal tubule reabsorption deficiency
Symptomes: 
Nutrients loss in the urine, increased urination and excessive drinking, chronic kidney failure
Age d'aparition: 
Between 4 and 8 years old
Fréquence: 
Not available
Gène impliqué: 
FAN1
Mutation testée: 
321bp deletion
Transmission: 
Autosomal Recessive
Brevet: 
-