The group of disorder of endocytosis includes protein receptor defects. Those disorders present with tubular massive proteinuria. Also the loss of hormones and protein-bound lipophilic hormones and vitamins may cause symptoms.
The two groups of metabolic and endocytotic proximal tubular diseases show a significant overlap. As endocytosis is an energy consuming process, any disturbances of cell metabolism that cause a deficit in energy will ensue disturbances of endocytosis. On the other hand, disturbances in the catabolism of endocytotic substances will lead to accumulation of metabolites that can not be further catabolized and these degradation products will hamper other metabolic processes. Thus eventually endocytotis and metabolic disturbances present with renotubular Fanconi syndrome though proteinuria is more prominent in endocytotic disorders.
Proximal tubular damage syndrome | |
With endocytotic disturbances of proximal tubule the Fanconi syndrome is dominated by massive pro6teinuria. |
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OMIM.ORG article Omim 600073 |