msyamp
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good question. i too used to have confusion between fanconi syndrome and fanconi anemia.
in fanconi syndrome we have decreased absorbtion of all the solutes in the proximal tubule leading to glucosuria, phosphaturia, aminoaciduria, bicarbonaturia, and proteinuria. it is due to energy ATP problem.
cystinosis is most commonly associated with it.
other associations are galacosimia, fructosse intolerance, tyrosinemia lead poisoning , glcogen storages ,wilsons tetrayclins and amioglycosides.
now Fanconi anemia.
it is a inherited bone marrow failure. all cell types decreased. AR, absent radii. etc
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| malinda
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thanx buddy.
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| anjushree
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fanconi syn AR INHERITENCE
present with rickets /osteomalasia
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| anjushree
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Fanconi anemia------inc risk to malignancy----?AML
Peculiar susceptibility to DNA cross linking agents-----chromosome damage &death due to exposure to certain chemical agents
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| DrVirgo
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I just came across this in Kaplan:
Aldolase B deficiency causes: "proximal renal tubule disorder resembling Fanconi syndrome"
The patient has Fructosuria, hypoglycemia, lactic acidosis after fructose ingestion, vomiting, apathy, diarrhea, liver damage, jaundice.
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| linaorvos
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very good topic, thanks!
Anemia--- Recesive Anemia, aplastic, often shows defects in thumbs, forearms, kidneys, predisposed to AML.
Syndrome----General disfunction of PCT, with Puria, GlucUria, aminoacid uria, and acidocis.. outdated tetras assoc with it.
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