Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Endocytotic disturbances of proximal tubular function

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.

Differentials

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.

Symptoms

Proximal tubular damage syndrome
With endocytotic disturbances of proximal tubule the Fanconi syndrome is dominated by massive pro6teinuria.

Systematic

Genetic disorders of proximal tubular function
Endocytotic disturbances of proximal tubular function
Donnai-Barrow syndrome
LRP2
Imerslund-Grasbeck syndrome
AMN
CUBN
Fanconi renotubular syndrome
Metabolic disturbances of proximal tubular function
Specific disturbances of proximal tubular transport

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OMIM.ORG article

Omim 600073 [^]
Update: April 29, 2019