Isifo Pompe: izimpawu kanye nokwelashwa

Namuhla kukhona izifo eziningi ezahlukene ukuthi ochwepheshe nobuso ezingavamile kakhulu. Omunye lezi zinkinga - isifo Pompe. Kuyini lokhu? Ngalolu futhi ufuna ukukhuluma manje.

amagama

Ekuqaleni, kubalulekile ukuqonda imigomo eyisisekelo. Ngakho, Pompe isifo - a sifo esingavamile esidluliselwa umzimba ukuthi unesikhathi umsuka zofuzo. Lokhu ukungabi azalwa naso we-enzyme akhethekile, esidingeka umuntu ngamunye njengoba ikhuthaza nokwehliswa kwesithunzi glycogen (umthombo amandla nokuthi amandla angaguqulwa). Uma engekho lapho lesi sakhi e zemali eziningi kakhulu we glycogen osekukhulunywe ngakho, kubangela izinkinga ezihlukahlukene. Kubalulekile futhi ukwazi ukuthi kulesi sifo isiguli abathintekayo imisipha zesivikelo sesifuba.

Main ngalesi sifo

Ekuqaleni, kufanele kuphawulwe ukuthi izimpawu zesifo kungenzeka nganoma isiphi isikhathi futhi ngasiphi yobudala, kusukela ebuntwaneni ziphethe ukuvuthwa. Nokho, zonke iziguli ahlolwa ngendlela: olwenzeka kancane kancane glycogen emzimbeni, okuyinto kukunye kuholela ekwenteni sokuwohloka kwemisipha. Kobukhulu isifo zingase zihluke. Konke kuncike yobudala zako, emikhulu, kuhlanganise nokuzigaxa enqubeni causative kwezitho ahlukahlukene kanye nezinhlelo (avame zokuphefumula, inhliziyo kanye izilonda lwamathambo).

Lapha kubalulekile ukuqaphela ukuthi Pompe isifo ezihlukahlukene. Ngakho, odokotela bathi mayelana ifomu zakudala ze-non-classical nesenzakalo yayo.

Symptomatology yefomu zasendulo Pompe isifo

Ekuqaleni, kumelwe kushiwo lapha ukuthi lokhu kwezinwele eziqine ifomu esisongela ukuphila kakhulu lesi sifo. Ngokuvamile kwenzeka ekuqaleni kokuphila komuntu, ikakhulukazi ezinyangeni zokuqala eziyisithupha. Kulokhu kuyisiko ukukhuluma ngezimpawu ezifana:

• Myopathy - evelele buthakathaka kwezicubu.
• Hypotonia - kwehle imisipha ithoni. Lezi zingane ngokuvamile abakwazi nakuphakamisela ikhanda lakhe.
• Cardiomegaly - nokwanda kokungabi inhliziyo.
• Hepatomegaly - isibindi anda ubukhulu.
• Macroglossia - nokwanda kokungabi ulimi.
• Izingane nale nkinga kabi ikhula ngesisindo esifanele, unezinkinga ukuthuthukiswa ngokomzimba.
• Ezinkingeni.

Kuyaphawuleka ukuthi kuleyo cala ugijimela nzima kakhulu Pompe isifo ezinganeni. Futhi ngokuvamile, ngisho ngonyaka wokuqala wokuphila, lezi izingane ziyafa. Okokuqala, abakwazi niphakamise amakhanda abo futhi ibukeke amaxoxo. Zonke amakhono motor bona ukuthola kancane kakhulu, njengoba bayakwazi ulahlekelwe ngokuhamba kwesikhathi. Ngokuvamile lezi chips abanakukwazi ukufunda ukuhlabelela ahlale, ukukhasa uhambe. Ngenxa yobuthakathaka imisipha kancane kancane ziye zasungula esingamahlalakhona cardiopulmonary. Uma unganikezi usizo ngesikhathi esifanele ingane enjalo futhi akazange aqale ukwelashwa lesifanele, ingane ngokuvamile uyafa ngisho nangaphambi lokuzalwa kwakhe kuqala.

I-non-classical uhlobo lesi sifo

kanjani Pompe isifo kwenzeka e-non-classical ngefomu? Ngakho, ekuqaleni kufanele kuphawulwe ukuthi kusobala ngisho engakayihlanganisi iminyaka engu-unyaka owodwa. Izingane ezinjalo ngokuvamile waphawula:

• Nokungathuthuki futhi lithenga motor amakhono.
• Ubuthakathaka bemisipha, okuyinto iqhubeka kuphela.
• Cardiomegaly, futhi kungenzeka yokumelwa yinhliziyo.

Le ndlela lesi sifo ezahlukene ukuthi senzeka ngokushesha. Izimpawu kokuqala kungase nakulokho hhayi, njengoba kubonakala kuphela e buthakathaka kwezicubu. Kubalulekile ukwazi ukuthi kuleli cala futhi udinga ukuqala ukwelashwa kusenesikhathi. Phela uma ingane uyagijima ingozi yokubulawa zisencane inguqulo izenzakalo ngendlela ehlukile.

Inkambo isifo abadala

Cabanga indlela isukela isifo zezingane Pompe (isithombe izingane ezinalesi sifo ethulwa esihlokweni), kumelwe futhi akutshele mayelana izimpawu zalesi inkinga abadala. Ngakho, ekuqaleni kufanele kuphawulwe ukuthi izimpawu zokuqala zesifo avele ngasekupheleni sobusha, futhi ngezinye izikhathi kamuva. Nokho, Pompe isifo kwenzeka abadala ethambile kakhulu kunezinye izinsana, udinga ukuqala ukwelashwa kusenesikhathi. Izimpawu main kulokhu:

• Ubuthakathaka bemisipha, kakhulukazi esifubeni kanye nasemilenzeni.
• ukwehluleka zokuphefumula, kukhona ukwehluleka diaphragm.
• izinguquko Gait iba ezitatazelayo engazinzile.
• Ubuhlungu bemisipha.
• Ukhathele umsebenzi nokwenzeka ngisho ukugibela izitebhisi.
• Isibindi kanye inhliziyo inyuka ngosayizi.

ukwelashwa

Uma ucabangela Pompe isifo, ukuphathwa futhi kufanele uhlole. Kufanele kuqashelwe ukuthi ukuba sibhekane nale nkinga ngisho simple, awukwazi vele uye ikhemisi futhi uthenge imithi eyodwa. It lidinga replacement therapy uma udinga esikhundleni-enzyme ibizwa ngokuthi myositis. Ngemva kwalokho, iziguli uzoyeka ukuqhubeka kwesifo, futhi kukhona inkathi kuzolile. Kubalulekile ukuqaphela ukuthi ukwelashwa yesondlo kusiza ukuze ngizigcine ngiwumqemane futhi amandla ukuphila okuvamile.