Idan ka koyi cewa kai ko ƙaunatacce yana da yarinya da cutar Pompe, za ka ji tsoro. Mene ne wannan cuta? Mene ne nau'o'in cuta? Kuma ta yaya ake bincikarsa da bi da shi?
Kwayar cuta ko Glycogen Storage cuta II (GSD-II)
Kwayar cuta, wanda aka fi sani da glycogen nau'in cuta na II (GSD-II) ko raunin maltase na acid, yana daya daga cikin lalacewar ajiya na lysosomal da aka sani na 49.
Sunan cutar Pompe ya fito ne daga Jakadancin JC Pompe na Dutch, wanda ya fara bayanin cutar jariri a 1932. Sakamakon cutar ya kamu da kimanin 5,000 zuwa 10,000 a duniya. A Amurka, an kiyasta zai shafi 1 a tsakanin mutane 40,000.
Kwayar cututtuka ta haifar da rashi ko rashin cikakkiyar wani enzyme da ake kira acid alpha-glucosidase. Idan wannan enzyme ba ya aiki yadda ya dace, glycogen, sukari mai rikitarwa, ya gina cikin jikin jikin kuma yana haddasa lalacewar kwayoyin da nama. Wannan ginawa yana rinjayar tsokoki na jiki, wanda zai haifar da rauni mai tsoka. Wannan raunin enzyme zai iya zama barazanar rai lokacin da ake ciwo da karfin zuciya da zuciya. Yanayin ne kwayoyin halitta, kuma iyaye duka suna dauke da kwayar halitta don yaron su gaji shi.
Akwai nau'i biyu na cututtuka na Pompe - ƙananan yara-farkon da farkon-farkon - dukansu suna haifar da rauni na tsoka. Yadda cutar ke ci gaba ya dogara ne akan yadda ya fara.
Ƙunƙasar Ƙari da Ƙari
Anyi la'akari da lalacewa-ƙananan yanayin mummunar cutar Pompe. Yanayin yakan bayyana a farkon watanni na rayuwa. Ƙananan jarirai suna da rauni kuma suna da matsala ta ɗora kawunansu. Zuciyarsu ta zama ƙwayar cuta kuma zukatansu sun kara girma. Hakanan suna iya samun manyan harsuna masu tasowa da kuma hanta mai girma.
Sauran cututtuka sun haɗa da:
- Rashin girma da kuma samun nauyi (rashin cin nasara)
- Ƙananan zuciya da ƙwaƙwalwar zuciya
- Rashin numfashi mai wuya wanda zai iya haɗawa da lalacewa
- Ciwo yana ciyarwa da hadiyewa
- Ƙananan hanyoyi masu tasowa kamar na juyewa ko ƙuƙwalwa
- Matsalolin motsi makamai da kafafu
- Rabawar ji
Cutar ta ci gaba da hanzari, kuma yara yawanci suna mutuwa ne saboda ciwon zuciya da nakasar numfashi kafin ranar haihuwa. Yaran da aka shafi za su iya rayuwa tsawon lokaci tare da maganin aikin likita.
Ƙarshen Tutu da Kyau
Magungunan ƙwayar cuta na farko yana farawa tare da bayyanar cututtuka na raunin tsoka wanda zai iya fara kowane lokaci tun daga yara har zuwa girma. Tashin rauni na jiki yana rinjayar ƙananan rabi na jiki fiye da ƙananan ƙananan. Haka kuma cutar ta cigaba da sannu a hankali fiye da nauyin nakasa, amma har yanzu mutane suna da rai mai raguwa.
Rayuwa na rayuwa ya dogara ne lokacin da yanayin ya fara da kuma yadda sauri ci gaban bayyanar cututtuka. Kwayar cututtuka irin su wahalar tafiya ko hawa matakan fara da cigaba da hankali a cikin shekaru. Kamar farkon farkon, mutane tare da farkon-farkon na iya haifar da matsalolin numfashi. Yayin da cutar ta ci gaba, mutane sun zama karusar da ke dogara ko kwanciya kuma suna iya buƙatar respirator don numfashi.
Sanin asali
Kwayar cuta na yawanci ana bincikar bayan an cigaba da cigaba. A cikin tsofaffi, ƙwayar cutar za ta iya rikitarwa tare da wasu cututtukan cututtuka na tsoka kamar su sclerosis . Idan likita da ake zargi da cutar Pompe, zasu iya nazarin aikin al-alpha-glucosidase aczyme acid a jikin jikin fata. A cikin tsofaffi, ana iya amfani da jarrabawar jini don ƙayyade raguwa ko rashin wannan enzyme.
Jiyya
Mutumin da ke dauke da cutar Pompe zai buƙaci kiwon lafiya na musamman daga masu ilimin halitta, likitoci na zamani, da kuma masu bincike. Mutane da yawa suna samun karin abincin mai gina jiki mai gina jiki don taimakawa, tare da aikin motsa jiki na yau da kullum.
Binciken likita na yau da kullum yana da muhimmanci kamar yadda cutar ta ci gaba.
A shekara ta 2006, hukumar kula da magunguna ta Turai (EMEA) da kuma US Food and Drug Administration (FDA) sun ba da izinin sayar da miyagun ƙwayoyi na Myozyme don magance cutar Pompe. A 2010, an yarda da Lumizyme. Myozyme shine ga marasa lafiya marasa lafiya fiye da shekaru takwas yayin da Lumizyme ya yarda da wadanda suka kai shekaru 8. Dukansu magungunan sun maye gurbin enzyme bace, don haka taimakawa wajen rage alamar yanayin. Dukansu Myozyme da Lumizyme ana tsoma su a cikin kowane mako biyu.
Sources:
Ƙarin Bayani na Cututtuka na PomPompe Community. 2005. Genzyme Corporation.
AMD - Ƙananan Acid Maltase - Ƙwayar cuta. 1997. Ƙungiyar Ƙunƙircin Abid Maltase.
Ƙungiyar Ƙungiyar Ƙananan Raunuka (NORD). Cututtuka na Pompe (2013).