Fanconi syndrome

Fanconi syndrome o se faʻaletonu o le fatugaʻo tubes i nisi o mea e masani ona mitiia i totonu o le toto ala i fatugaʻo ua faʻasaʻolotoina i le miaga nai lo.

Fanconi syndrome e mafai ona mafua mai i sese genes, pe ono mafua mulimuli ane i le olaga ona o le fatugaʻo faʻaleagaina. O isi taimi e le o iloa le mafuaʻaga o le Fanconi syndrome.

Masani mafuaʻaga o le Fanconi syndrome i tamaiti o le kenera faaletonu e aafia ai le tino o le mafai gafatia lalo nisi vaega e pei o:

• Cystine (cystinosis)
• Fructose (fructose faʻapalepale)
• Galactose (galactosemia)
• Glycogen (glycogen teuina faʻamaʻi)

Cystinosis o le mafuaʻaga masani a Fanconi syndrome i tamaiti.

Isi mafuaʻaga i tamaiti aofia ai:

• Faʻaalia i mamafa metala e pei o taʻimua, mercury, po o cadmium
• Lowe syndrome, o se seasea tupuʻaga faaletonu o mata, faiai, ma fatugaʻo
• Wilson faamaʻi
• Faʻamaʻi o le maʻi, o se faʻamaʻi masani o fatugaʻo

I tagata matutua, Fanconi syndrome mafai ona mafua mai i le tele o mea e faʻaleagaina le fatugaʻo, aofia ai:

• Nisi vailaʻau, aofia ai azathioprine, cidofovir, gentamicin, ma tetracycline
• Tuiina fatugaʻo
• Moli filifili teuina filifili
• Myeloma tele
• Amyloidosis Peraimeri

Faʻailoga aofia ai:

• Taliaina tele aofaiga o miaga, lea e mafai ona taitai atu ai i le leai se vai
• Sili fiainu
• Tiga o ponaivi tiga
• Fractures ona o ponaivi vaivai
• Vaivaiga maso

O suʻesuʻega a le fale suʻesuʻe e ono faʻaalia ai o le tele o mea nei e leiloa i le miaga:

• Amino acid
• Bicarbonate
• Kulukose
• Magnesium
• Phosphate
• Potasiuma
• Sodium
• Uric acid

O le leiloa o nei vailaʻau e mafai ona mafua ai le tele o faʻafitauli. O isi suʻega ma suʻega faʻaletino e ono faʻaalia ai faʻailoga o:

• Faʻamaligiina ona o tele urination
• Le manuia tuputupu aʻe
• Osteomalacia
• Rickets
• Ituaiga 2 renal tubular acidosis

Ole tele o faʻamaʻi eseʻese e mafua ai le Fanconi syndrome. O le mafuaʻaga mafuaʻaga ma ona faʻailoga e tatau ona togafitia pe a talafeagai.

O le vavalo e faʻamoemoe i le maʻi autu.

Valaʻau i lau fomaʻi pe a fai e iai sau faʻaletonu poʻo vaivaiga vaivaiga.

De Toni-Fanconi-Debré syndrome

• Anatomia fatugaʻo

Bonnardeaux A, Bichet DG. Tofiina faaletonu o le tubule Fatugao. I: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner ma Rector's Le Fatugaʻo. 11th lomiga. Filatelefia, PA: Elsevier; 2020: chap 44.

Fomaʻi JW. Fanconi syndrome ma isi faʻalavelave faʻafuaseʻi o le tubule. I le: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Faʻamatalaga auʻiliʻi. 6th ed. Filatelefia, PA: Elsevier; 2019: chap 48.