Fanconi, syndrome or disease
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(Toni-Debré-Fanconi syndrome, Lignac-Fanconi syndrome, infantile nephropathic cystinosis, phospho-gluco-aminated diabetes)
Proximal renal tubulopathy often secondary to various genetic metabolic diseases affecting the metabolism of cystine (cystinosis), fructose (fructosemia), galactose (galactosemia), glycogen (glycogen storage diseases), or tyrosine (tyrosinemia). Sometimes, the cause is acquired : intoxication by heavy metals, immunosuppressive drugs, gentamycin, myeloma, amyloidosis.
Clinic: glycosuria, aminoaciduria, loss of bicarbonate and phosphate, renal failure. Hepatomegaly. Dwarfism. Hypokalemia. Rachitism.
Anesthetic implications:
check electrolytes. Careful positioning (risk of fracture).
Updated: May 2019