Debré-de-toni-fanconi syndromeE72.0

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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DefinitionThis section has been translated automatically.

Primary, hereditary, idiopathic reabsorption disorder of the renal tubules with dystrophy and short stature and combined fat and glycogen storage in the liver.

EtiopathogenesisThis section has been translated automatically.

Disruption of the reabsorption of glucose, inorganic phosphate and amino acids in the kidney.

ManifestationThis section has been translated automatically.

Childhood, occasionally adulthood.

Clinical featuresThis section has been translated automatically.

Spontaneous and pseudofractures (demineralisation of the skeleton), rickets, anaemia, short stature.

LaboratoryThis section has been translated automatically.

Phosphaturia, aminoaciduria, glycosuria.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer