Yintoni iZellweger syndrome kunye nendlela yokuyinyanga

Umxholo

• Iimpawu zesifo
• Yintoni ebangela isifo
• Unyango lwenziwa njani

Isifo seZellweger sisifo esinqabileyo semfuza esibangela utshintsho kumathambo nasebusweni, kunye nomonakalo omkhulu kumalungu abalulekileyo anjengentliziyo, isibindi kunye nezintso. Ukongeza, ukunqongophala kwamandla, ukuva ubunzima kunye nokubanjwa kuqhelekile.

Iintsana ezinesi sifo zihlala zibonisa iimpawu kunye neempawu kwiiyure zokuqala ezimbalwa okanye kwiintsuku ezimbalwa emva kokuzalwa, ke ugqirha wabantwana unokucela ukuba kwenziwe uvavanyo lwegazi kunye nomchamo ukuqinisekisa isifo.

Nangona lungekho unyango lwesi sifo, unyango luyanceda ukulungisa ezinye zeenguqu, lwandisa amathuba okusinda kwaye luvumela ukuphucula umgangatho wobomi. Nangona kunjalo, kuxhomekeke kuhlobo lotshintsho kumzimba, ezinye iintsana zinomndilili wokuphila zingaphantsi kweenyanga ezi-6.

Iimpawu zesifo

Iimpawu ezibonakalayo zomzimba kaZellweger syndrome zibandakanya:

• Iflethi ubuso;
• Impumlo ebanzi kunye neflethi;
• Ibunzi elikhulu;
• Inkalakahla;
• Amehlo ajonge phezulu;
• Intloko inkulu kakhulu okanye incinci kakhulu;
• Amathambo okakayi ahlukene;
• Ulwimi olukhulu kunesiqhelo;
• Ulusu lusongelwe entanyeni.

Ukongeza, utshintsho oluninzi lunokwenzeka kumalungu abalulekileyo anje ngesibindi, izintso, ingqondo kunye nentliziyo, ethi, ngokuxhomekeke kubukhali bokungalungi, inokubusongela ubomi.

Kuqhelekile ukuba kwiintsuku zokuqala zobomi, usana alunamandla emisipha, kunzima ukuncancisa, ukuxhuzula kunye nokuva nzima nokubona.

Yintoni ebangela isifo

Isifo sibangelwa kukutshintsha kwemvelo kwemfuza kwii-PEX genes, oko kuthetha ukuba ukuba kukho iimeko zesifo kwiintsapho zabazali bobabini, nokuba abazali abanaso esi sifo, kukho amathuba angama-25% okuba umntwana onesifo sikaZellweger.

Unyango lwenziwa njani

Akukho luhlobo lonyango lwe-Zellweger syndrome, kwaye kwimeko nganye, ugqirha wabantwana kufuneka avavanye utshintsho olwenziwe sisifo elusaneni kwaye acebise olona nyango lululo. Olunye ukhetho lubandakanya:

• Ubunzima bokuncancisa: ukubeka ityhubhu encinci ngqo esiswini ukuvumela ukutya kungene;
• Utshintsho entliziyweni, kwizintso okanye kwisibindi: ugqirha unokukhetha ukwenza utyando ukuzama ukulungisa okungalunganga okanye ukusebenzisa iziyobisi ezithomalalisa iimpawu;

Nangona kunjalo, kwiimeko ezininzi, utshintsho kumalungu abalulekileyo, anjengesibindi, intliziyo nengqondo, alunakulungiswa emva kokuzalwa, abantwana abaninzi baphelela ekusileleni kwesibindi, ukopha okanye iingxaki zokuphefumla ezisongela ubomi kwiinyanga ezimbalwa zokuqala.

Ngokwesiqhelo, amaqela onyango olu hlobo lwee-syndromes adityaniswa noochwephesha bezempilo ukongeza koogqirha babantwana, ezinje ngee-cardiologists, i-neurosurgeons, i-ophthalmologists kunye ne-orthopedists, umzekelo.