I-Zellweger Syndrome Izimpawu kunye neNgcebiso

I-Zellweger syndrome yintlupheko engabonakaliyo, enexabiso elizuzelayo elichaphazela i-peroxisomes, i-organelles etholakala phantse kuwo onke amaseli omzimba. I-Peroxisomes inoxanduva lweenkqubo ezininzi zeeseli ezibalulekileyo, kubandakanywa umbane we-metabolism, oko kuthetha ukuba iZellweger syndrome inokuchaphazela kakhulu umzimba. Funda malunga nendlela iZellweger syndrome echaphazela ngayo umzimba, kunye neyonyango kunye neendlela zokucebisa ngezofuzo.

Izifo zeSectweger Spectrum Disorders

I-Zellweger syndrome yinkxalabo enkulu yeqela leengxaki ezibizwa ngokuba yiZellweger. Nangona ukuphazamiseka kwiinkalo kwakuye kwacatshangwa ukuba zizinto ezihlukeneyo, azikwahlulwa njengezinto ezahlukeneyo zenkqubo yesifo esinye. Izifo zengxube yeZellweger ziquka:

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

Iziphazamiso zikwabelana ngempawu ezininzi, kodwa akubona bonke abantu abaya kuba nazo zonke iimpawu okanye iimpembelelo ezifanayo kuxhomekeke apho bawa khona kwibala.

Iimpawu

I-Zellweger syndrome iqikelelwa ukuba yenzeke kwi-1 kuwo onke ama-50,000 ukuya ku-100,000 okuzalwa. Bobabini abesilisa nabesifazana banokuzalwa nale meko. Ichaphazela iindawo ezininzi zomzimba, kuquka:

• Intloko kunye nobuso: intloko ekhulisiweyo; ephakamileyo; i-fontanelle enkulu yangaphambili ("indawo epholileyo"); i-earlobes engalunganga; ubuso obukhangelelene

• Ubuninzi kunye nenkqubo yeentlanzi: ukuphuhliswa kwengqondo engavumelekanga okukhokelela ekuthinjeni ; ukuvalelwa kunye nokukhubazeka kombono; ukuphazamiseka kwengqondo kunye nokulibaziseka kokuphuhliswa; i-reflexes ephantsi okanye engekhoyo
• Isibindi: isibindi esandisiweyo esisebenza kakuhle; jaundice
• Iingongoma: ii -cyst cysts; hydronephrosis
• Imizimba kunye namathambo: ithoni ephantsi kakhulu (hypotonia); ukukhubazeka kwethambo ezandleni, emilenzeni nasezinyaweni

Ukuxilongwa

Ubume obunjalo bentloko kunye nobuso bomntwana ozalwe ngeZellweger syndrome kunikeza inkcazelo yokuxilongwa. I-Zellweger syndrome ibangela ukuxhotyiswa kwe-fatty chain-long chain acids (VLCFA), ngoko uvavanyo lweVLCFA lunokunceda ukuqinisekisa ukuxilongwa. Oku kunye neminye imvavanyo ekhethekileyo yezinto eziphilayo kunye nezofuzo zingenziwa kwiindawo ezithile zokuvavanya.

Unyango

Nangona inkqubela yophando eyenziwe ekuqondeni i-Zellweger syndrome, akukho nonyango ekhoyo, kwaye iintsana ezizalwe ngxaki zihlala ziphelile kunyaka wokuqala wobomi. Ukunyamekela unyango kugxininise ekuphatheni iimpawu ezikhoyo, ezinjengobungozi bentsholongwane kunye nokutshatyalaliswa. Ukutshintsha inani le-VLCFA ekudleni akuzange kuboniswe ukuba yinkqubo efanelekileyo yonyango.

Ukongezelela, unyango, umzimba, kunye nonyango lunokunceda ekuncediseni nasekududeni imiba.

Ukululekwa ngeGenesis

Ukufunyanwa kwangaphambili kwe-Zellweger syndrome kunye nezinye izifo zengcezu zeZellweger zinokwenzeka ngokuhlolwa kofuzo. I-Zellweger syndrome izuze ifa lokuziphatha ngokweqile , oku kuthetha ukuba abantwana bayaphuhlisa ukuba ngaba bobabini abazali baphethe i-gene defective. Ukuba ngaba kunjalo, umntwana ngamnye ozayo unokufumana ithuba lokuzalwa ngeZellweger syndrome.

Abacebisi be-Genetic banokukunceda ukuthetha ngengozi yakho.

_Imithombo:

_{Chedrawi, A, & Clark, G. (2002). Izifo zePeroxisomal. eMedicine.}

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