Sisiphi isifo seGaucher kunye nokuba sinyangwa njani

Umxholo

• Iimpawu eziphambili
• Uxilongo lwenziwa njani
• Unyango lwenziwa njani

Isifo seGaucher sisifo semfuza esinqabileyo esibonakaliswa kukunqongophala kwe-enzyme ebangela ukuba into enamafutha kwiiseli ifake kumalungu ahlukeneyo omzimba, njengesibindi, udakada okanye imiphunga, kunye nethambo okanye umnqonqo. .

Ngenxa yoko, ngokuxhomekeke kwisiza ochaphazelekayo kunye nezinye iimpawu, esi sifo sinako ukwahlulwa ngokweendidi ezintathu:

• Chwetheza 1 isifo seGaucher - non-neuropathic: yeyona fomu ixhaphakileyo kwaye ichaphazela abantu abadala kunye nabantwana, ngokuqhubela phambili kancinci kunye nobomi obuqhelekileyo obunokwenzeka ngokuthatha amayeza ngokuchanekileyo;
• Uhlobo lwesibini lwesifo seGaucher - uhlobo lwe-neuropathic etsolo: ichaphazela iintsana, kwaye ihlala ichongwa de kube ziinyanga ezi-5 ubudala, sisifo esibi, esinokukhokelela ekufeni ukuya kuthi ga kwiminyaka emi-2;
• Uhlobo lwesithathu lwesifo seGaucher - I-subacute form ye-neuropathic: ichaphazela abantwana kunye nolutsha, kwaye isifo sayo sihlala senziwa kwiminyaka emi-6 okanye esi-7 ubudala. Ayisiyonto imbi njengefom yesi-2, kodwa inokukhokelela ekufeni kwiminyaka engama-20 okanye engama-30 ubudala, ngenxa yeengxaki zemithambo-luvo neze-pulmonary.

Ngenxa yobukrakra bezinye iintlobo zesifo, ukuxilongwa kwaso kufuneka kwenziwe ngokukhawuleza, ukulungiselela unyango olufanelekileyo kunye nokunciphisa iingxaki ezinokubusongela ubomi.

Iimpawu eziphambili

Iimpawu zesifo sikaGaucher zinokwahluka ngokuxhomekeka kuhlobo lwesifo kunye neendawo ezichaphazelekayo, nangona kunjalo ezona mpawu zixhaphakileyo zibandakanya:

• Ukudinwa kakhulu;
• Ukulibaziseka kokukhula;
• Impumlo yopha;
• Intlungu yethambo;
• Ukwaphuka okuzenzekelayo;
• Ukwandiswa kwesibindi kunye ne-spleen;
• Iimvumba ze-Varicose kwi-esophagus;
• Intlungu zesisu.

Kukho izifo zethambo ezinjenge-osteoporosis okanye i-osteonecrosis. Kwaye amaxesha amaninzi, ezi mpawu aziveli ngaxeshanye.

Xa esi sifo sichaphazela nengqondo, eminye imiqondiso inokuvela, njengokuhamba kwamehlo okungaqhelekanga, ukuqina kwemisipha, ubunzima bokuginya okanye

Uxilongo lwenziwa njani

Ukuxilongwa kwesifo seGaucher kwenziwa ngokusekelwe kwiziphumo zovavanyo ezifana ne-biopsy, i-spleen puncture, uvavanyo lwegazi okanye ukubhoboza intambo yomqolo.

Unyango lwenziwa njani

Isifo seGaucher asinyangi, nangona kunjalo, zikhona ezinye iindlela zonyango ezinokuthomalalisa iimpawu kwaye zivumele ubomi obungcono. Kwiimeko ezininzi, unyango lwenziwa ngokusetyenziswa kwamayeza ubomi bakho bonke, amayeza aqhelekileyo asetyenziswa yiMiglustat okanye i-Eliglustat, amayeza athintela ukwenziwa kwezinto ezinamanqatha eziqokelelana kumalungu.

Kwiimeko ezinzima kakhulu, ugqirha unokucebisa ukuba utyando lomongo wethambo okanye kwenziwe utyando ukususa udakada.