Genetic disorders of proximal tubular function
The group of disorders of proximal tubular function comprises unspecific metabolic disorders which represent a renotubular Fanconi syndrome and specific defects of tubular transport.
Proximal tubule has a unique role among renal tubules. It has to retrieve the essential components of the primary ultrafiltrate. Those include proteins, lipids with vitamins and hormones, glucose, amino acids, bicarbonate, phosphate, and urate. Most of these transport processes are energy dependent therefore it comes as no surprise that metabolic cellular damage results in an unspecific disturbance of all these transport functions, the renotubular Fanconi syndrome. Besides this unspecific tubular injury all of these transporters can be deficient by a specific genetic mutation. These deficiencies result in isolated urine or serum abnormalities.
None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.[^]
OMIM.ORG articleOmim 230400 [^]