Siyini isifo seGaucher nokuthi singaselapha kanjani

-Delile

• Izimpawu eziyinhloko
• Ukuxilongwa kwenziwa kanjani
• Yelashwa kanjani

Isifo i-Gaucher isifo esingajwayelekile sezakhi zofuzo esibonakala ngokushoda kwe-enzyme okwenza ukuthi okunamafutha emangqamuzaneni kugcinwe ezithweni ezahlukahlukene zomzimba, njengesibindi, ubende noma amaphaphu, kanye nasemathanjeni noma emgogodleni. Ithambo .

Ngakho-ke, ngokuya ngesiza esithintekile nezinye izici, lesi sifo singahlukaniswa ngezinhlobo ezintathu:

• Thayipha isifo sokuqala se-Gaucher - i-non-neuropathic: iyindlela ejwayelekile kakhulu futhi ethinta abantu abadala nezingane, ngokuqhubeka kancane nokuphila okujwayelekile okungenzeka ngokuphuza imithi ngendlela efanele;
• Uhlobo lwesifo se-Gaucher 2 - ifomu elibi le-neuropathic: lithinta izingane, futhi livame ukutholakala kuze kube yizinyanga ezinhlanu ubudala, njengesifo esibi, esingaholela ekufeni kuze kube yiminyaka emibili;
• Uhlobo lwesifo se-Gaucher 3 - subacute form neuropathic: ithinta izingane nentsha, futhi ukuxilongwa kwayo kuvame ukwenziwa eminyakeni eyi-6 noma engu-7. Ayinzima njengefomu 2, kepha ingaholela ekufeni cishe eminyakeni engama-20 noma engama-30 ubudala, ngenxa yezinkinga zezinzwa nezemaphaphu.

Ngenxa yobunzima bezinhlobo ezithile zalesi sifo, ukuxilongwa kwaso kufanele kwenziwe ngokushesha okukhulu, ukuze kuqalwe ukwelashwa okufanele futhi kunciphise nezinkinga ezingabeka impilo yabantu engcupheni.

Izimpawu eziyinhloko

Izimpawu zesifo seGaucher zingahluka ngokuya ngohlobo lwesifo nezindawo ezithintekile, kepha izimpawu ezijwayelekile zifaka:

• Ukukhathala ngokweqile;
• Ukubambezeleka kokukhula;
• Ukopha ekhaleni;
• Ubuhlungu bamathambo;
• Ukuqhekeka okuzenzekelayo;
• Isibindi esikhulisiwe nobende;
• Imithambo ye-Varicose emqaleni;
• Ubuhlungu besisu.

Kungaba khona nezifo zamathambo ezifana ne-osteoporosis noma i-osteonecrosis. Futhi isikhathi esiningi, lezi zimpawu aziveli ngasikhathi sinye.

Lapho lesi sifo sithinta nobuchopho, kungavela ezinye izimpawu, njengokuhamba kwamehlo okungajwayelekile, ukuqina kwemisipha, ubunzima bokugwinya noma

Ukuxilongwa kwenziwa kanjani

Ukutholakala kwesifo seGaucher kwenziwa ngokuya ngemiphumela yezivivinyo ezifana ne-biopsy, ukubhoboza ubende, ukuhlolwa kwegazi noma ukubhoboza umgogodla.

Yelashwa kanjani

Isifo se-Gaucher asinalo ikhambi, noma kunjalo, kunezinhlobo ezithile zokwelashwa ezinganciphisa izimpawu futhi zivumele impilo engcono. Ezimweni eziningi, ukwelashwa kwenziwa ngokusetshenziswa kwemithi impilo yakho yonke, amakhambi asetshenziswa kakhulu kube iMiglustat noma i-Eliglustat, amakhambi avimbela ukwakheka kwezinto ezinamafutha ezinqwabelana ezithweni.

Ezimweni ezinzima kakhulu, udokotela futhi angancoma ukuthi kufakelwe umnkantsha wethambo noma kwenziwe ukuhlinzwa ukuze kususwe ubende.