Yini i-Zellweger syndrome nokuthi ilashwa kanjani

-Delile

• Izici zesifo
• Yini ebangela lesi sifo
• Yelashwa kanjani

I-Zellweger syndrome yisifo esingajwayelekile sofuzo esidala ushintsho emathanjeni nasebusweni, kanye nomonakalo omkhulu ezithweni ezibalulekile njengenhliziyo, isibindi nezinso. Ngaphezu kwalokho, ukuntuleka kwamandla, ukuzwa kanzima nokuquleka nakho kuyinsakavukela.

Izingane ezinalesi sifo zivame ukukhombisa izimpawu nezimpawu emahoreni ambalwa okuqala noma ezinsukwini ezimbalwa ngemuva kokuzalwa, ngakho-ke udokotela wezingane angacela ukuba kwenziwe ukuhlolwa kwegazi nomchamo ukuze kuqinisekiswe ukuxilongwa.

Yize lungekho ikhambi lalesi sifo, ukwelashwa kusiza ukulungisa ezinye zezinguquko, kwandisa amathuba okusinda futhi kuvumela ukwenziwa ngcono kwekhwalithi yempilo. Kodwa-ke, kuya ngohlobo lwezinguquko zomzimba, ezinye izingane zinesilinganiso sokuphila esingaphansi kwezinyanga eziyisithupha.

Izici zesifo

Izici eziyinhloko zomzimba ze-Zellweger syndrome zifaka:

• Ubuso obuyisicaba;
• Ikhala elibanzi nelisicaba;
• Isiphongo esikhulu;
• Ulwanga lweWarhead;
• Amehlo atshekele phezulu;
• Inhloko inkulu kakhulu noma incane kakhulu;
• Kuhlukaniswe amathambo ogebhezi;
• Ulimi olukhulu kunokujwayelekile;
• Isikhumba sigoqeka entanyeni.

Ngaphezu kwalokho, izinguquko eziningana zingenzeka ezithweni ezibalulekile ezifana nesibindi, izinso, ubuchopho nenhliziyo, okuthi, ngokuya ngobukhulu bokungalungi, okungabeka impilo engcupheni.

Kujwayelekile nokuthi ezinsukwini zokuqala zokuphila, ingane iba namandla emisipheni, ubunzima bokuncelisa ibele, ukudlikizela nobunzima bokuzwa nokubona.

Yini ebangela lesi sifo

Lesi sifo sibangelwa ukushintsha kwezakhi zofuzo ngokweqile kwezakhi zofuzo ku-PEX, okusho ukuthi uma kunezimo zesifo emindenini yabazali bobabili, noma ngabe abazali bengenaso lesi sifo, kunamathuba cishe angama-25% okuba ingane ene-Zellweger's syndrome.

Yelashwa kanjani

Alukho uhlobo oluthile lokwelashwa kwe-Zellweger syndrome, futhi esimweni ngasinye, udokotela wezingane udinga ukuhlola izinguquko ezibangelwa yisifo enganeni futhi ancoma ukwelashwa okungcono kakhulu. Ezinye izinketho zifaka:

• Kunzima ukuncelisa: ukufaka ishubhu elincane ngqo kuze kufike esiswini ukuze ukudla kungene;
• Izinguquko enhliziyweni, ezinso noma esibindini: udokotela angakhetha ukuhlinzwa ukuze azame ukulungisa ukungasebenzi kahle noma asebenzise imishanguzo eqeda izimpawu;

Kodwa-ke, ezimweni eziningi, izinguquko ezithweni ezibalulekile, njengesibindi, inhliziyo nobuchopho, azikwazi ukulungiswa ngemuva kokuzalwa, izingane eziningi zigcina zinenkinga yokuhluleka kwesibindi, ukopha noma izinkinga zokuphefumula ezisongela ukuphila ezinyangeni ezimbalwa zokuqala.

Imvamisa, amaqembu okwelashwa alolu hlobo lwama-syndromes akhiwa ochwepheshe bezempilo abaningana ngaphezu kodokotela bezingane, njengama-cardiologists, ama-neurosurgeons, ama-ophthalmologists kanye nama-orthopedists, ngokwesibonelo.