Ngati mwaphunzira kuti inu kapena wokondedwa muli ndi mwana ndi matenda a Pompe, mwina mukuwopa. Kodi matendawa ndi otani? Kodi mitundu yosiyana ya matendawa ndi iti? Ndipo amapezeka bwanji ndi kuchiritsidwa?
Matenda a Pompe kapena Matenda a Glycogen Wosungirako II (GSD-II)
Matenda a Pompe, omwe amadziwikanso kuti glycogen matenda a mtundu wachiwiri (GSD-II) kapena kuchepa kwa asidi a maltase, ndi chimodzi mwa mavuto 49 omwe amadziwika kuti matenda a lysosomal.
Dzina lakuti Pompe matenda amachokera kwa munthu wina wa ku Germany, dzina lake JC Pompe, yemwe poyamba anafotokoza mwana wakhanda ali ndi matendawa mu 1932. Matenda a Pompe amawononga anthu pafupifupi 5,000 mpaka 10,000 padziko lonse lapansi. Ku United States, akuti akukhudza 1 pa anthu 40,000.
Matenda a pompe amayamba chifukwa cha kusowa kwa thupi kapena kutaya kwathunthu mavitamini otchedwa acid alpha-glucosidase. Ngati tizilombo toyambitsa matenda sizimagwira bwino ntchito, glycogen, shuga wovuta kwambiri, imamangirira m'maselo a thupi ndipo imayambitsa kuwonongeka kwa chiwalo. Izi zimakhudza kwambiri minofu ya thupi, zomwe zimayambitsa kufooka kwa minofu. Kulephera kwa enzyme imeneyi kumakhala koopsa pomwe kupuma ndi mtima kumakhudzidwa. Matendawa ndi amtundu, ndipo makolo onse awiri ayenera kunyamula jekeseni wa mwana wawo kuti awulandire.
Pali mitundu iwiri ya matenda a Pompe - kutuluka kwa mwana komanso kuchepa-zonse zomwe zimayambitsa minofu yofooka. Momwe matendawa amachitira zimadalira momwe akuyambira mofulumira.
Matenda a Infantile-Onset Pompe
Matenda a ana aamuna amaonedwa ngati mawonekedwe amphamvu a matenda a Pompe. Chikhalidwechi chimakhala chikuwoneka mkati mwa miyezi ingapo yoyambirira ya moyo. Ana ali ofooka ndipo amakumana ndi mavuto. Minofu ya mitima yawo imakhala matenda ndipo mitima yawo ikukula ndi yofooka. Angakhale ndi zilankhulo zazikulu, zotulutsa chiwindi komanso chiwindi chofutukuka.
Zizindikiro zina ndizo:
- Kulephera kukula ndi kulemera (kulephera kulemera)
- Kulephera kwa mtima ndi kusagwirizana kwa mtima
- Kupuma kovuta komwe kungaphatikizepo kupopera
- Kudyetsa mavuto ndi kumeza
- Zosowa zamakono zopanda chitukuko zikungoyenda kapena kuyendayenda
- Mavuto akusuntha manja ndi miyendo
- Kumva kutayika
Matendawa amakula mofulumira, ndipo ana amafa chifukwa cha kufooka kwa mtima ndi kufooka kwapuma asanafike tsiku loyamba la kubadwa. Ana okhudzidwa akhoza kukhala ndi nthawi yayitali ndi njira zoyenera zachipatala.
Matenda a Pompe Ochedwa
Matenda a Pompe Kawirikawiri amayamba ndi zizindikiro za kufooka kwa minofu zomwe zingayambe nthawi iliyonse kuyambira ali mwana mpaka kukalamba. Kufooka kwa minofu kumakhudza theka la pansi la thupi kuposa pamtunda. Matendawa amayamba pang'onopang'ono kusiyana ndi mawonekedwe aang'ono, koma anthu amakhalabe ndi moyo wofupika.
Chiyembekezo cha moyo chimadalira pamene vuto liyamba komanso momwe zizindikiro zimayendera mwamsanga. Zizindikiro monga kuvutika kuyenda kapena kukwera masitepe kumayamba ndikupita patsogolo pang'onopang'ono kwa zaka zambiri. Monga mofulumira, anthu omwe amayamba mochedwa angakhalenso ndi mavuto. Pamene matendawa akupita, anthu amakhala ndi olumala kapena amakhala ogona ndipo angafunike kupuma mpweya.
Kudziwa
Matenda a Pompe amapezeka kuti atatha kale matenda. Kwa akuluakulu, matenda a Pompe angasokonezedwe ndi matenda ena amtundu wambiri monga multiple sclerosis . Ngati dokotala akuganiza kuti matenda a Pompe, angayang'ane ntchito ya enzyme yogonana ndi alpha-glucosidase m'maselo a khungu. Kwa akuluakulu, kuyezetsa magazi kungagwiritsidwe ntchito pofuna kuchepetsa kapena kupezeka kwa pulojekitiyi.
Chithandizo
Munthu amene ali ndi matenda a Pompe adzafunikira thandizo lapadera la zamankhwala kuchokera ku majeremusi, akatswiri a zamagetsi, ndi akatswiri a maganizo. Anthu ambiri amapeza zakudya zamapuloteni kuti zikhale zothandiza, komanso kuchita masewera olimbitsa thupi tsiku ndi tsiku.
Kuyezetsa magazi mobwerezabwereza n'kofunikira pamene matendawa akupita.
Mu 2006, European Medicines Agency (EMEA) ndi US Food and Drug Administration (FDA) onse awiri adapereka chilolezo chogulitsa mankhwala a Myozyme kuti athetse matenda a Pompe. Mu 2010, Lumizyme inavomerezedwa. Myozyme ndi odwala osapitirira zaka 8 pamene Lumizyme imavomerezedwa kwa anthu omwe ali ndi zaka zoposa 8. Onsewa amalowa m'malo mwa mankhwalawa, motero amachepetsa zizindikiro za matendawa. Myozyme ndi Lumizyme zimaperekedwa mwakabisira milungu iwiri iliyonse.
Zotsatira:
Chidule cha Pompe DiseasePompe Community. 2005. Genzyme Corporation.
Matenda a AMD - Acid Maltase - Matenda a Pompe. 1997. Association of Deficiency Maltase Association.
National Organization for Rare Diseases (NORD). Matenda a Pompe (2013).