Debré-de-toni-fanconi syndrome E72.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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

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

Manifestation
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Childhood, occasionally adulthood.

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

Laboratory
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Phosphaturia, aminoaciduria, glycosuria.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020