Pompe cuta: cututtuka da kuma magani

Yau akwai mutane da yawa daban-daban cututtuka da cewa kwararru fuskanci musamman rare. Daya daga cikin wadannan matsaloli - Pompe cuta. Mene ne wannan? A wannan kuma so in yi magana game da yanzu.

terminology

Da farko, wajibi ne a fahimci ainihin sharuddan. Saboda haka, Pompe cuta - a rare rayuwa cuta cewa yana da wani kayyade asalin. Wannan nakasar babu musamman enzyme, wanda ake bukata kowane mutum kamar na inganta rage daraja na glycogen (tushen samar da makamashi da kuma makamashi). A cikin rashi na wannan kashi a wani jari na da yawa daga cikin waccan mujalla da muka glycogen, haddasa matsaloli daban-daban. Yana da muhimmanci a lura da cewa a wannan cuta a cikin haƙuri shafi tsoka zaruruwa.

Main game da cutar

Da farko, ya kamata a lura da cewa bayyanar cututtuka da cutar na iya faruwa a kowane lokaci da kuma a kowane zamani, daga jariri da kuma kawo karshen tare da balaga. Duk da haka, dukan marasa lafiya sha daya hanyar: a hankali a hankali jari na glycogen a cikin jiki, wanda kokari take kaiwa zuwa murdede dystrophy. The mai tsanani da cuta iya zama daban-daban. Duk abin dogara a kan shekaru ta bayyananen, kazalika da hannu a cikin causative aiwatar da daban-daban gabobin da kuma tsarin (mafi sau da yawa numfashi, cardiac kuma kwarangwal raunuka).

Ga shi kuma da muhimmanci a lura da cewa Pompe cuta ne na daban-daban iri iri. Saboda haka, likitoci suka ce game da gargajiya da kuma wadanda ba na gargajiya nau'i na da ya faru.

Symptomatology na gargajiya nau'i na Pompe cuta

Da farko, dole ne a ce a nan cewa wannan ne toughest kuma mafi rai barazana nau'i na cutar. Mafi sau da yawa da shi ya auku a farkon adam rayuwa, musamman a cikin watanni shida na farkon. A wannan yanayin shi ne m magana game da irin wannan bayyanar cututtuka:

• Myopathy - pronounced tsoka rauni.
• Hypotonia - rage tsoka sautin. Wadannan yara sau da yawa ba zai iya ko da ya dauke kansa.
• Cardiomegaly - wata karuwa da zuciya.
• Hepatomegaly - hanta ya karu a size.
• Macroglossia - wata karuwa da harshe.
• Kids tare da wannan matsalar talauci samun nauyi, da matsaloli tare da jiki ci gaba.
• Karsh matsaloli.

Shi ne ya kamata a lura da cewa a cikin wannan yanayin da ya fi wuya runs Pompe cuta a cikin yara. Kuma sau da yawa, ko da a cikin shekarar farko na rayuwa, wadannan yara suna mutuwa. Na farko, ba za su iya tãyar da kawunansu da kuma kama frogs. All motor basira su karɓo su sosai a hankali, kamar yadda suna iya rasa a kan lokaci. Sau da yawa wadannan kwakwalwan kwamfuta ba zai iya koyi zauna, ja jiki da kuma tafiya. Saboda da tsoka rauni suka yi hankali ɓullo da cardiopulmonary insufficiency. Idan ba ka samar dace taimako ga irin wannan jariri kuma bai fara da daidai magani, da jariri sau da yawa mutu tun kafin ya fara ranar haihuwa.

A ba na gargajiya nau'i na cutar

Ta yaya za a iya Pompe cuta yakan faru a cikin wadanda ba na gargajiya a form? Saboda haka, da farko ya kamata a lura da cewa shi ne, bayyananne ko kafin shekaru na shekara guda. Irin yara sau da yawa lura:

• Underdevelopment da kuma nemowa motor basira.
• Muscle rauni, wanda kawai ci gaba.
• Cardiomegaly, iya faruwa zuciya rashin cin nasara.

Wannan nau'i na cutar ne daban-daban a cewa yana daukan wuri ba kamar yadda azumi. A farko bayyanar cututtuka ƙila za a gani da kuma ba, kamar yadda aka bayyana ne kawai a tsoka rauni. Yana da muhimmanci a lura da cewa a cikin wannan harka kuma bukatar a fara jiyya a farkon yiwu. Bayan duk, a lokacin da yaro ke gudanar da hadarin mutuwa da wuri, tun shekaru da wani daban-daban version of events.

A hanya da cuta a cikin manya

Ka yi la'akari da yadda Saide daga yara ta cutar Pompe (photo yara tare da wannan cuta ana gabatar a cikin labarin), dole ne ka kuma gaya muku game da bayyanar cututtuka da wannan matsalar a cikin manya. Saboda haka, da farko ya kamata a lura da cewa na farko alamun cutar bayyana zuwa karshen samartaka, da kuma wani lokacin daga baya. Pompe cuta yakan faru a cikin manya da yawa softer fiye da a jarirai, duk da haka, kana bukatar ka fara jiyya a farkon yiwu. Babban bayyanar cututtuka a cikin wannan hali:

• Muscle rauni, yafi da jiki da kuma kafafu.
• Numfashi kasawa, akwai wani diaphragm gazawar.
• Gait canje-canje zama mawuyacin halin da m.
• Pain a cikin tsokoki.
• Gaji da m motsa jiki da kuma ko da hawa mataki.
• Hanta da kuma zuciya ƙaruwa a size.

magani

Ganin Pompe cuta, da jiyya ya kamata kuma a bincika. Ya kamata a lura da cewa mu jimre wa wannan matsala ba haka ba ne mai sauki, ba za ka iya kawai zuwa kantin magunguna da kuma saya daya magani. Yana bukatar a maye far a lokacin da kuke bukata don maye gurbin wani enzyme da aka kira myositis. Bayan haka, marasa lafiya za su daina ci gaban da cuta, da kuma a can ne na tsawon zumunta kwantar da hankula. Yana da muhimmanci a lura da cewa goyon baya far taimaka wajen ci gaba da Fit da ƙarfi domin al'ada rayuwa.