I-Zellweger Syndrome Izimpawu kanye nokubikezela

I-Zellweger syndrome yisifo esingavamile, esizuzwa njengezifo eziphathelene ne-peroxisomes, i-organelles etholakala cishe kuwo wonke amangqamuzana omzimba. I-Peroxisomes inomthwalo wemisebenzi eminingi ebalulekile yamaseli, kufaka phakathi i-energy metabolism, okusho ukuthi i-Zellweger syndrome ingathinta kakhulu umzimba. Funda ukuthi i-Zellweger syndrome ithinta kanjani umzimba, kanye nokwelashwa kanye nokhetho lokululeka ngezofuzo.

I-Zellweger Spectrum Disorders

I-Zellweger syndrome yinkinga enkulu kakhulu yeqembu lezinkinga ezibizwa ngokuthi yi-Zellweger spectrum disorders. Ngenkathi ukuphazamiseka kulesisindo kwakucatshangwa ukuthi yizinhlangano ezihlukene, azihlukaniswa njengezinhlobo ezahlukene zesifo esisodwa. Izinkinga ze-Zellweger spectrum zihlanganisa:

• I-Cerebrohepatorenal Syndrome
• Hyperpipecolic acidemia
• Izifo ze-Infantile Refsum
• I-Neonatal Adrenoleukodystrophy
• I-Zellweger Syndrome

Izinkinga zihlanganyela izimpawu eziningi, kodwa akubona bonke abantu abazoba nazo zonke izimpawu ezifanayo noma imiphumela emibi kuye ngokuthi bawela kuphi.

Izimpawu

I-Zellweger syndrome ilinganiselwa ukuthi yenzeke ku-1 kubo bonke abazalwa ngokuzalwa kuka-50 000 kuya ku-100,000. Bobabili abesilisa nabesifazane bangazalwa nalesi simo. Lithinta izingxenye eziningi zomzimba, kufaka phakathi:

• Inhloko nobuso: ikhanda elikhulisiwe; ikhanda eliphakeme; i-fontanelle enkulu ye-anterior ("indawo elula"); ama-earlobes angalungile; ubuso obheke phansi

• Uhlelo lobuchopho nesisindo : ukuthuthukiswa okungavamile kobuchopho okuholela ekubhekeni ; ukuzwa nokukhubazeka kombono; ukuphuza kanzima kwengqondo nokulibaziseka kwentuthuko; i-reflexes enciphisa noma engekho
• Isibindi: umsebenzi wesibindi okhululekile; i-jaundice
• Izinso: ama-cyst; i-hydronephrosis
• Imisipha namathambo: ithoni ephansi kakhulu (hypotonia); ukukhubazeka kwamathambo ezandleni, emilenzeni nasezinyaweni

Ukuxilongwa

Ukuma okwehlukile kwekhanda nokubukeka kwezingane ezelwe nge-Zellweger syndrome kunikeza inkomba yokuxilongwa. I-Zellweger syndrome ibangela ukwakheka kwe-fatty-chain chain-acids (VLCFA), ngakho-ke ukuvivinywa kwe-VLCFA kungasiza ukuqinisekisa ukuxilongwa. Lokhu kanye nezinye izivivinyo eziphilayo ezikhethekile kakhulu eziphilayo kanye nezakhi zofuzo zingenziwa kwezinye izikhungo zokuhlola.

Ukwelapha

Naphezu kocwaningo lwentuthuko olwenzile ekuqondeni i-Zellweger syndrome, akukho ukwelashwa okwamanje okwamanje, futhi izinsana ezalwa nesifo ngokuvamile ziyafa ngonyaka wokuqala wokuphila. Ukunakekelwa kwezokwelapha kugxile ekwelapheni izimpawu ezikhona, ezifana nokukhubazeka kwesibindi nokuhlukumeza. Ukushintsha inani le-VLCFA ekudleni akuboniswanga ukuthi ukwelashwa okuphumelelayo.

Ngaphezu kwalokho, ukwelashwa ngokomzimba, emsebenzini, nokukhuluma kungasiza ngokudla nokududuza izinkinga.

Ukululekwa nge-Genetic

Ukutholakala kokuqala kwe-Zellweger syndrome kanye nezinye izifo ze-spectrum ze-Zellweger kungenzeka ngokuhlolwa kofuzo. I-Zellweger syndrome izuzwe njengefa ngokweqile ngokweqile , okusho ukuthi izingane ziyakhula uma abazali bobabili bephethe izakhi zofuzo. Uma kunjalo, ingane ngayinye yesikhathi esizayo inamathuba angu-25 okuzalwa ngeZellweger syndrome.

Abacebisi bezakhi zofuzo bangakusiza ukukhuluma ngengozi yakho.

_Imithombo:

_{Chedrawi, A, & Clark, G. (2002). Izifo ze-Peroxisomal. eMedicine.}

_{Grayer, J. (2005). Ukuqashelwa kwe-Zellweger syndrome kwasebuntwaneni. Adv Neonatal Care, 5 (1), 5-13.}