I-Hunter syndrome: kuyini, ukuxilongwa, izimpawu nokwelashwa

-Delile

• Izimpawu zeHunter Syndrome
• Ukuxilongwa kwenziwa kanjani
• Ukwelashwa kweHunter Syndrome

IHunter Syndrome, eyaziwa nangokuthi yiMucopolysaccharidosis type II noma i-MPS II, iyisifo esingajwayelekile sezakhi zofuzo esivame kakhulu emadodeni esibonakala ngokushoda kwe-enzyme, i-Iduronate-2-Sulfatase, ebalulekile ekusebenzeni kahle komzimba.

Ngenxa yokwehla komsebenzi wale enzyme, kunqwabelana kwezinto ngaphakathi kwamaseli, okuholela ezimpawu ezinzima nasekuguqukeni okuqhubekayo, njengokuqina kwamalunga, ukushintsha kwenhliziyo nokuphefumula, ukubonakala kwezilonda zesikhumba kanye nezinguquko zemizwa, isibonelo .

Izimpawu zeHunter Syndrome

Izimpawu zeHunter Syndrome, isivinini sokuqhubekela phambili kwezifo nokuba namandla ziyahlukahluka kuye ngomuntu, izici eziyinhloko zalesi sifo yilezi:

• Izinguquko zezinzwa, lapho kungenzeka khona ukuntuleka kwengqondo;
• I-Hepatosplenomegaly, okungukukhulisa isibindi nobende, okuholela ekwandisweni kwesisu;
• Ukuqina okuhlangene;
• Ubuso obumangele futhi obungalingani, obunekhanda elikhulu, ikhala elibanzi nezindebe eziwugqinsi, ngokwesibonelo;
• Ukulahlekelwa ukuzwa;
• Ukwanda kwe-retina;
• Kunzima ukuhamba;
• Izifo zokuphefumula njalo;
• Kunzima ukukhuluma;
• Ukubukeka kwezilonda zesikhumba;
• Ubukhona be-hernias, ikakhulukazi i-umbilical ne-inguinal.

Ezimweni ezimbi kakhulu kungahle kube nezinguquko zenhliziyo, ukwehla kokusebenza kwenhliziyo, kanye nezinguquko zokuphefumula, okungaholela ekuvinjelweni komoya futhi kwandise namathuba okutheleleka ngokuphefumula, okungaba kubi kakhulu.

Ngenxa yokuthi izimpawu zibonakalisa futhi ziguquke ngokuhlukile phakathi kweziguli ezinesifo, isikhathi sokuphila naso siyahlukahluka, kunethuba elikhulu lokufa phakathi kweminyaka eyishumi neyesibili yokuphila lapho izimpawu ziba nzima kakhulu.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kweHunter Syndrome kwenziwa ngudokotela wezakhi zofuzo noma udokotela ojwayelekile ngokusho kwezimpawu ezethulwe ngumuntu kanye nomphumela wezivivinyo ezithile. Kubalulekile ukuthi ukuxilongwa kungenziwa kuphela ngokuya ngokuboniswa komtholampilo, ngoba izici zifana kakhulu nezinye ze-mucopolysaccharidoses, futhi kubalulekile ukuthi udokotela ayale ukuhlolwa okuningana. Funda kabanzi nge-mucopolysaccharidosis nokuthi ungayibona kanjani.

Ngakho-ke, kubalulekile ukukala ama-glycosaminoglycans emchameni futhi, ikakhulukazi, ukuhlola amazinga womsebenzi we-enzyme Iduronate-2-Sulfatase kuma-fibroblasts ne-plasma. Ngaphezu kwalokho, ezinye izivivinyo zivame ukunconywa ukubheka ukuqina kwezimpawu, njenge-ultrasound, izivivinyo zokuhlola amandla okuphefumula, i-audiometry, ukuhlolwa kwemizwa, ukuhlolwa kwamehlo nokuqaqanjelwa kwekhanda nomgogodla, isibonelo.

Ukwelashwa kweHunter Syndrome

Ukwelashwa kweHunter Syndrome kuyahlukahluka ngokuya ngezimpawu ezethulwe ngabantu, kepha kuvame ukunconywa ngudokotela ukwenza indawo ye-enzyme ukuvimbela ukuqhubeka kwesifo nokubukeka kwezinkinga.

Ngaphezu kwalokho, udokotela uncoma ukwelashwa okuqondile kwezimpawu ezethulwayo kanye nokwelashwa emsebenzini kanye nokwelashwa ngokomzimba ukuze kukhuthazwe ukukhuluma nokunyakaza kweziguli ezine-Syndrome ukuvimbela ubunzima bezimoto nezenkulumo, ngokwesibonelo.