Debré-de-toni-fanconi syndrome E72.0
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.
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Manifestation
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Childhood, occasionally adulthood.
Clinic
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Spontaneous and pseudofractures (demineralisation of the skeleton), rickets, anaemia, short stature.
Laboratory
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Phosphaturia, aminoaciduria, glycosuria.
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Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer