Hunter syndrome - a sifo esingavamile esidluliselwa ngofuzo

Kwezokwelapha, baba baningana izifo ezingavamile, bahlanganisa futhi Hunter syndrome (Mucopolysaccharidosis uhlobo 2), okuyinto, isibonelo, cishe ngo-50 kuphela abantu iyagula eRussia. Lesi sifo zofuzo sidlulile kusukela umama nebafana. Kikho koke ukuphila kwakhe unina bangase bangaqapheli ukuthi okungukuthi esiphathiswa isakhi sofuzo lilimele. Amathuba kokuzalwa kwengane yakho nge zokugula balaba besifazane - 50%. Kodwa kungase kwenzeke ngezikhathi ezithile (oqabukelayo) ngokuguqula izakhi zofuzo zofuzo umbungu, kodwa abazali abanawo kwezinso.

Hunter syndrome, lo mshini ukuthuthukiswa

Ngo abantu kukhona izinkulungwane izinqubo ezahlukene umzimba eziletha "imfucuza impahla" kuyinto okukhiphayo ngaphandle. Lapho Hunter syndrome i- exchange mucopolysaccharides (glycosaminoglycans) ababoniswa, kodwa buthelela zonke ezicutshini zomzimba. Lokhu kungenxa yokuthi akukho iduronatsulfataza enzyme. Kusobala ukuthi ezimweni ezinjalo izitho futhi izinhlelo kuphele usebenze kahle, kukhona ukwephulwa.

Hunter syndrome, ukucinga indikimba yendaba emitholampilo

Empeleni izimpawu ziqala ukuvela kuphela emva amabili kuya eminyakeni emithathu, izingane zizalwa evamile, futhi abazali bengase bangaqapheli isifo sabo. izici zobuso abe izwi indawo, futhi, ukuphefumula kuba ezinomsindo, futhi ingane iqala sigule izifo ngokuvamile zokuphefumula ezibangelwa amagciwane. Ukubukeka umfana ukuthi isikhumba obukhulu ebusweni, entanyeni esifushane, namazinyo ezingavamile, izindebe awugqinsi, ulimi noma ikhala yini. Zonke izingane Hunter syndrome ayifane kangaka nomunye, ukuthi ezithathwe ngenxa yabazalwane.

Ngemva izinyane emithathu noma emine ubudala kuba nzima ukuhamba, ukuqina emalungeni baba, ulahlekelwa ukubambisana, ungawela. Yonke nohlaka lwamathambo siyashintsha.

Qala iziyaluyalu psyche, ingane ingase ibe ecasukile noma nolaka. Ezinye izingane anezinto. Ukuba nala makhono okukhulunywa ukuthi ingane usezuze kuye ngeminyaka yazo, balahlekile. Uba olungenakuzisiza, khuluma ayisekho.

Cishe zonke iziguli kuthinta inhliziyo, umkhiqizo umzimba aqoqana valve, kubenze ukushwaqa. Ngo usakhula, izinguquko imperceptible, ekuqaleni ukwephulwa zaba umuntu omdala.

Kukhona izinhlobo ezimbili: izimpawu isifo A Hunter futhi B. ifomu kuqala, kwakuqhubeka ngokushesha, kuza retardation ngokwengqondo ifomu lesibili kuba lula uma ingane lukusindisile biko. Kuye uhlobo lwesifo bempilo zabantu ongafinyelela iminyaka 50-60. Nokho, nge amafomu okunzima izingane aphila iminyaka engaba ngu 8-9.

sitholakele isifo

I enhle okufana ukuthola izifo lezinceku - izifundo zofuzo umbungu. Kodwa ukuhlolwa okunjalo akukhona ukuthuthumela, Ngakho-ke, ngaphandle iziyaluyalu pre-ezingavamile akunakwenzeka.

Esikhathini umchamo iziguli wembula semali sulfate heparan futhi dermatan.

-X-ray isithombe nohlaka lwamathambo - dysostosis amaningi (anomalies yentuthuko lwamathambo).

Hunter ukwelashwa syndrome

Izidakamizwa ekwelapheni mucopolysaccharidosis uhlobo 2 ziye kuhlelwe futhi enzyme elingekho. "Elapraza 'kubhekisela esenzakalweni esiyisimangaliso izindlela. Nokho, kungenzeka ukuthola hhayi zonke iziguli, izindleko izidakamizwa ibiza kakhulu futhi iyatholakala phesheya kuphela.

Lokwelapha izingane ezinezimo Hunter syndrome kufanele zikhokhwa nguhulumeni, kodwa iziphathimandla waphika kubo, kusukela ukusetshenziswa wonyaka umuntu ngamunye ifaniswe isabelomali nokugcinwa lonke emtholampilo. Kodwa yokwelapha lezi izingane wokuphila, ingafaniswa yokwelapha isifo sikashukela lapho umuntu njalo idinga insulini. Wonke umuntu uyazi ukuthi ngaphandle insulini sikashukela ngeke aphile isikhathi eside, nesimo esifanayo futhi nale egunjini lokuhlolwa kwezifo. Abazali abasabambelele ngandlela-thile ukuphatha ukuze uthole izidakamizwa (abaxhasi, sa), bathi ingane iba ngcono, ukuqala ukuhamba futhi siphile singaphila ukuphila okuvamile.