Matenda Pompe: zizindikiro ndi mankhwala

Today pali matenda osiyanasiyana kuti akatswiri maso yosowa kwambiri. Limodzi mwa mavuto awa - matenda Pompe. Ndi chiyani icho? Pa izi ndi kulankhula za tsopano.

terminology

Poyamba, m'pofunika kumvetsa Kunena mwachidule. Choncho, Pompe matenda - ndi chosowa kagayidwe kachakudya matenda ali ndi chiyambi chibadwa. Izi pakalibe kobadwa nako wa enzyme wapadera, zomwe chofunika munthu aliyense monga amalimbikitsa kunyoza glycogen (mphamvu ndi mphamvu). Popeza amafotokozera izi kudzikundikira zambiri za glycogen zatchulidwazi, kuchititsa mavuto osiyanasiyana. M'pofunikanso kukumbukira kuti matenda wodwalayo anakhudzidwa ulusi minofu.

Main za matendawa

Poyamba, tisaiwale kuti zizindikiro za matenda kumachitika nthawi iliyonse ndi pa msinkhu wina uliwonse, kuyambira ukhanda kutsiriza ndi kukhwima. Komabe, odwala onse kukumana ndi njira imodzi: a kudzikundikira mwapang'onopang'ono glycogen mu thupi, amene mosasintha kumabweretsa akulu dystrophy. The kukula kwa matenda angakhale osiyana. Zonse zimadalira zaka maonekedwe ake, komanso kulowerera mu ndondomeko causative ziwalo zosiyanasiyana ndi machitidwe (zambiri kupuma, mtima ndi zotupa chigoba).

Apa ndi chofunika kudziwa kuti matenda Pompe ndi a mitundu yosiyanasiyana. Choncho, madokotala kunena za mtundu chakale ndipo sanali chakale cha pakuwonekera kwake.

Symptomatology wa mawonekedwe chakale cha matenda Pompe

Poyamba, izo ziyenera anati apa kuti ndi kuzisiya ndi ambiri akayakaya mawonekedwe a matenda. Nthawi zambiri kumachitika pa chiyambi cha moyo wa munthu, makamaka miyezi isanu ndi umodzi woyamba. Pankhaniyi adafuna kulankhula za zizindikiro amenewa:

• Myopathy - kutchulidwa minofu kufooka.
• Hypotonia - utachepa minofu kamvekedwe. Ana awa zambiri ngakhale kukweza mutu wake.
• Cardiomegaly - ponso mtima.
• Hepatomegaly - chiwindi kuchuluka kukula.
• Macroglossia - ponso chinenero.
• Kids ndi vutoli bwino kupeza kulemera, ndi mavuto ndi kukula.
• Kuvutika kupuma.

Dziwani kuti mu nkhani kuti amathamanga ovuta kwambiri Pompe matenda ana. Ndipo nthawi zambiri, ngakhale mu chaka choyamba cha moyo, ana awa akufa. Choyamba, iwo sangathe kuukitsa mitu yawo ndi kuyang'ana ngati achule. maluso onse galimoto iwo tikhale pang'onopang'ono, monga akhoza kutaya nthawi. Nthawi zambiri tchipisi izi sangathe kuphunzira kukhala, kumakwawa ndi kuyenda. Chifukwa kufooka minofu iwo Pang'onopang'ono anayamba mouzirira insufficiency. Ngati mulibe kuthandizapo pa nthawi yake kwa kamwana ndi sanayambitse mankhwala cholondola, mwana zambiri wamwalira ngakhale pamaso kubadwa kwake koyamba.

The sanali chakale mawonekedwe a matenda

Kodi Pompe matenda amapezeka mu sanali chakale mu mawonekedwe? Choncho, poyamba tisaiwale kuti zimaoneka ngakhale asanafike zaka chaka chimodzi. ana amenewa nthawi zambiri anati:

• Underdevelopment ndi kupeza luso galimoto.
• Minofu kuchepa mphamvu, yomwe ili m'kati yekha.
• Cardiomegaly, zingachitikenso mtima kulephera.

Izi mawonekedwe a matenda ndi osiyana mu kuti inachitika mofulumira. Zizindikiro woyamba kuona osati monga chaonetsedwa yekha mu kufooka minofu. Nkofunika kudziwa kuti mu nkhani iyi inunso mufunika uyamba chithandizo mwamsanga. Ndipotu, mwana akuthamanga chiopsezo akufa ali aang'ono Baibulo zochitikazo m'njira yosiyana.

Njira ya matenda akuluakulu

Taganizirani mmene chimaposa cha matenda ana Pompe (chithunzi ana ndi matenda amene timapemphera m'nkhani), muyenera kudziwa za zizindikiro za vutoli akuluakulu. Choncho, poyamba tisaiwale kuti zizindikiro woyamba wa matenda kuoneka kutha kwa unyamata, ndipo nthawizina ina. Pompe matenda amapezeka aakulu lililonse limatisokoneza kwambiri kuposa makanda Komabe, mukufunika chithandizo mwamsanga. Zizindikiro zazikulu mu nkhani iyi:

• Minofu kuchepa mphamvu, makamaka torso ndi miyendo.
• zolephera kupuma, pali zakulera kulephera.
• kusintha Gait amakhala Kusakhazikika ndi wosakhazikika.
• Kupweteka minofu.
• Otopa zolimbitsa thupi zotheka komanso ngakhale kukwera masitepe.
• Chiwindi ndi mtima umachuluka kukula.

chithandizo

Poganizira matenda Pompe, mankhwala ayenera kufukulidwa. Tikumbukenso kuti kupirira vuto limeneli si kophweka, inu simungakhoze basi kupita ku malo ogulitsa mankhawala ndi kugula mankhwala amodzi. Zimafunika m'malo mankhwala pamene muyenera m'malo puloteni wotchedwa myositis. Pambuyo Odwala adzaleka Kukula kwa matendawa, ndipo pali nthawi mwamtendere. Nkofunika kudziwa kuti yokonza mankhwala zimathandiza kudziwa zoyenera ndi mphamvu wabwinobwino.