Isifo seFanconi

I-Fanconi syndrome kukuphazamiseka kwemibhobho yezintso apho izinto ezithile zihlala zingena kwigazi zizintso ezikhutshwa ziye kumchamo endaweni yoko.

I-Fanconi syndrome inokubangelwa yimfuza engalunganga, okanye inokubangela kamva ebomini ngenxa yomonakalo wezintso. Ngamanye amaxesha unobangela wesifo seFanconi akaziwa.

Izizathu eziqhelekileyo zesifo seFanconi ebantwaneni ziziphene zemfuza ezichaphazela ukubanakho komzimba wokwephula iikhompawundi ezithile ezinje:

• ICystine (icystinosis)
• I-Fructose (ukunganyamezelani kwe-fructose)
• IGalactose (galactosemia)
• I-Glycogen (isifo sokugcina isifo se-glycogen)

ICystinosis sesona sizathu siqhelekileyo sesifo seFanconi ebantwaneni.

Ezinye izizathu kubantwana zibandakanya:

• Ukubonakaliswa kwizinyithi ezinzima ezifana nelothe, i-mercury, okanye i-cadmium
• Isifo seLowe, isifo esingaqhelekanga semfuza yamehlo, ingqondo kunye nezintso
• Isifo sikaWilson
• Isifo samazinyo, isifo esingaqhelekanga semfuza sezintso

Kubantu abadala, isifo seFanconi sinokubangelwa zizinto ezahlukeneyo ezonakalisa izintso, kubandakanya:

• Amayeza athile, kubandakanya i-azathioprine, i-cidofovir, i-gentamicin, kunye ne-tetracycline
• Ukutshintshwa kwezintso
• Ukukhanya kokuhanjiswa kwesifo
• I-myeloma eninzi
• Amyloidosis yamabanga aphantsi

Iimpawu zibandakanya:

• Ukugqithisa izixa ezikhulu zomchamo, ezinokukhokelela ekuphelisweni komzimba
• Ukunxanwa okugqithisileyo
• Intlungu ebuhlungu yethambo
• Ukuqhekeka ngenxa yobuthathaka bamathambo
• Ubuthathaka bemisipha

Iimvavanyo zaselebhu zingabonisa ukuba uninzi lwezi zinto zilandelayo zinokulahleka kumchamo:

• Ii-amino acid
• IBicarbonate
• Iswekile
• Magnesium
• Iphosphate
• Potassium
• Isodium
• Uric acid

Ukuphulukana nezi zinto kungakhokelela kwiingxaki ezahlukeneyo. Olunye uvavanyo kunye novavanyo lomzimba lunokubonisa iimpawu zoku:

• Ukuphelelwa ngamanzi emzimbeni ngenxa yokuchama kakhulu
• Ukungaphumeleli ukukhula
• Osteomalacia
• Iirockets
• Chwetheza i-acidic tubular acidosis

Izifo ezininzi ezahlukeneyo zinokubangela isifo seFanconi. Unobangela oyintloko kunye neempawu zayo kufuneka ziphathwe ngokufanelekileyo.

Ukuxelwa kwangaphambili kuxhomekeke kwisifo esisisiseko.

Fowunela umboneleli wakho wezempilo ukuba ngaba unamanzi emzimbeni okanye ubuthathaka bemisipha.

Isifo sikaDe Toni-Fanconi-Debre

• I-anatomy yezintso

IBonnardeaux A, iBichet DG. Ukuphazamiseka okuzelwe njengelifa kwisifo sezintso. Ku: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, ii-eds. Brenner kunye noMphathi weZintso. Ngomhla we-11. IPhiladelphia, PA: Elsevier; 2020: isahl 44.

Umphathi JW. I-Fanconi syndrome kunye nokunye ukuphazamiseka kwesifo sephepha. Ku: Feehally J, Floege J, Tonelli M, Johnson RJ, ii-eds. I-Clinical Nephrology epheleleyo. Umhla wesi-6. IPhiladelphia, PA: Elsevier; I-2019: isahluko 48.