Ciwon Pompe: menene shi, alamomi da magani

Wadatacce

• Alamomin Cutar Pompe
• Binciken asali na cutar Pompe
• Yaya maganin yake
• Physiotherapy don cutar Pompe

Cutar Pompe cuta ce ta neuromuscular wacce ba ta da ƙwayar cuta ta asali ta asali wanda ke tattare da rauni na tsoka da ciwan zuciya da na numfashi, wanda zai iya bayyana a farkon watanni 12 na rayuwa ko kuma daga baya yayin yarinta, samartaka ko girma.

Cutar Pompe ta taso ne saboda ƙarancin enzyme da ke da alhakin lalata glycogen a cikin tsokoki da hanta, alpha-glucosidase-acid, ko GAA. Lokacin da wannan enzyme bai kasance ba ko aka samo shi a cikin ƙananan ƙwayoyi, glycogen yana fara tarawa, wanda ke haifar da lalata ƙwayoyin tsoka, wanda ke haifar da bayyanar cututtuka.

Wannan cuta ba ta da magani, duk da haka yana da matukar mahimmanci a gano cutar da wuri-wuri don haka babu wani ci gaba na alamomin da ke lalata rayuwar mutum. Kodayake babu magani, ana warkar da cutar Pompe ta hanyar maye gurbin enzyme da kuma zaman gyaran jiki.

Alamomin Cutar Pompe

Cutar Pompe cuta ce ta kwayar halitta da gado, don haka alamun cuta na iya bayyana a kowane zamani. Alamomin suna da alaƙa daidai da aikin enzyme da adadin glycogen da aka tara: ƙananan ayyukan GAA, mafi girman adadin glycogen kuma, saboda haka, mafi girman lalacewar ƙwayoyin tsoka.

Babban alamu da alamomin cutar Pompe sune:

• Ci gaba da rauni na tsoka;
• Ciwon tsoka;
• Tafiya mara ƙarfi a ƙafafun kafa;
• Matsalar hawa matakala;
• Matsalar numfashi tare da ci gaba daga baya na rashin aikin numfashi;
• Matsalar taunawa da haɗiye;
• Ci gaban mota ya gaza na shekaru;
• Pain a cikin ƙananan baya;
• Matsalar tashi daga zaune ko kwanciya.

Bugu da kari, idan kadan ne ko babu wani aiki na enzyme na GAA, mai yiyuwa ne kuma mutum ya sami wadatar zuciya da hanta.

Binciken asali na cutar Pompe

Ganewar cutar Pompe ana yin sa ne ta hanyar karɓar ɗan jini kaɗan don tantance aikin GAA enzyme. Idan an samu kadan ko babu aiki, ana yin gwajin kwayoyin halitta don tabbatar da cutar.

Zai yiwu a binciko jaririn yayin da yake da juna biyu, ta hanyar amniocentesis. Ya kamata a yi wannan gwajin a kan batun iyayen da suka riga sun sami ɗa mai cutar Pompe ko kuma lokacin da ɗayan iyayen suka sami ƙarshen cutar. Hakanan ana iya amfani da gwajin DNA azaman hanyar tallafi wajen gano cutar Pompe.

Yaya maganin yake

Maganin cutar Pompe takamaiman ce kuma ana yin sa ne ta hanyar amfani da enzyme wanda mai haƙuri baya samarwa, enzyme alpha-glucosidase-acid. Sabili da haka, mutum yana fara lalata glycogen, yana hana haɓakar lalacewar tsoka. Ana lissafin maganin enzyme gwargwadon nauyin mara lafiyar kuma ana amfani dashi kai tsaye zuwa jijiyar kowane kwana 15.

Sakamakon zai kasance mafi kyau idan aka gano asalin cutar kuma aka aiwatar da maganin, wanda a zahiri yana rage lalacewar salula sakamakon taruwar glycogen, wanda ba za a iya canzawa ba kuma, don haka, mai haƙuri zai sami ingantacciyar rayuwa.

Physiotherapy don cutar Pompe

Fisiotherapy don cutar Pompe wani ɓangare ne mai mahimmanci na jiyya kuma yana aiki don ƙarfafawa da haɓaka ƙarfin tsoka, wanda yakamata ya jagoranci jagora na likita. Bugu da ƙari, yana da mahimmanci a yi aikin likita na numfashi, tun da yawancin marasa lafiya na iya samun wahalar numfashi.

Treatmentarin jiyya tare da mai ba da ilimin magana, likitan huhu da likitan zuciya da masanin halayyar ɗan adam tare a ƙungiyar ƙwararrun masanan suna da mahimmanci.