Pompe maʻi: symptoms a me ka lapaʻau

I kēia lā ua nui na maʻi he nui i ka 'Oihana maka'āina pohihihi keia. I kekahi o kēia mau pilikia - Pompe maʻi. He aha ka mea? Ma keia a me ka makemake i ka olelo e pili ana i kēia manawa.

terminology

Initially, ia mea pono e maopopo i ka kumu o hua'ōlelo. No laila, Pompe maʻi - he pohihihi keia metabolic kāna hana e loaʻa he aaiaoe kumu. Kēia congenital nele o kūikawā'ūhū, a ua koi 'ia kēlā me kēia kanaka e like me ka paipai' ia ka hoʻololi iho o glycogen (ke kumu o ka ikaika a me ka ikehu). I ka wa e kaawale aku o keia hehee ai i loko o ka hoʻomāhuahua o ka nui loa o ka hoʻoili glycogen, e kauoha ana na pilikia. Ua mea i nui, e hoailona oukou ia ia i loko o kēia maʻi i loko o ka hoomanawanui loli Muscle olona.

Main e pili ana i ka maʻi

Initially, ka mea e e kaulana ia i hana i ka symptoms o ka maʻi i kekahi manawa, a ma kekahi mau makahiki, mai ka wā kamaliʻi a pau me ka waiwai nui. Eia naʻe, a pau nā mea maʻi undergo kekahiʻaoʻao: he gradual hoʻomāhuahua o glycogen i loko o ke kino, i invariably hiki aku ai i muscular dystrophy. Ke oolea o ka maʻi i e okoa. Na mea a pau hilinaʻi nui ma ka makahiki o kona hoike ana, e like me ka pono i komo i loko o ka causative kaʻina o kekahi mau nā loko, a nenoai (ka hapanui pinepine naehana hanu, cardiac a me ka skeletal lesions).

Eia ka mea, ka i nui, e hoailona oukou i Pompe maʻi mea o nāʻano likeʻole. No laila, kauka olelo e pili ana i panina a me ka 'ole-panina ano o kona hanana.

Symptomatology o ka panina helehelena o Pompe maʻi

Initially, ka mea pono e olelo mai nei i keia mea i ka toughest, a me ka loa ola-na olelo hooweliweli au ano o ka maʻi. Loa pinepine ia ia lŘlŘ i ka hoʻomaka o ke kanaka ola, o ka oi aku i loko o ka eono mahina mua. Ma keia hihia ka mea, me ke ano mua e kamailio e pili ana i na symptoms:

• Myopathy - haʻi Muscle nawaliwali.
• Hypotonia - ua hoʻemi Muscle leo. Mau keiki pinepine hiki ole hoi e hapai i kona poo.
• Cardiomegaly - he hua o ka naau.
• Hepatomegaly - ake nui ae la ka nui.
• Macroglossia - he hua o ka 'ōlelo.
• Kids me kēia pilikia poorly ho onui ana ke kaupaonaʻana, i pilikia me ka physical ulu.
• Ha pilikia.

Ua mea waiwai 'ana i kumumanaʻo i loko o ia hihia i ka loa pilikia holo Pompe maʻi i loko o nā keiki. A pinepine, a hiki i ka makahiki mua o ke ola, i kēia mau keiki i ka make. Mua, ka mea hiki ole ho'āla i ko lakou mau poo, a nana e like na rana. All Hawaii mākau ka mea, kuai loa lohi, e like me ka mea, e hiki e lilo no manawa. Pinepine mau inoaia hiki ole aʻo i ka noho, kolo, a hele. Aie i ka Muscle nawaliwali ka mea, ua i nā ulu cardiopulmonary insufficiency. Inā 'oe e ole hoʻolako' eleu kōkua i ia kekahi kamaiki, a i ole e hoʻomaka i ka pololei lapaʻau, ka bebe pinepine make a hiki mua o kona lā hānau mua.

Ke ole-panina ano o ka maʻi

Pehea hiki Pompe maʻi ia lŘlŘ ma 'ole-panina ma ka palapala? No laila, initially ka mea, e kaulana e ia mea, heʻoiaʻiʻo i mua o ka makahiki o ka hoʻokahi makahiki. Oia na keiki pinepine malama:

• Underdevelopment a e loaa Hawaii mākau.
• Muscle nawaliwali, i wale progresses.
• Cardiomegaly, hiki no hoi i hoʻomaka ai ka naʻau ole.

Kēia palapala no ka maʻi meaʻokoʻa i loko o ia mea, e wahi i like ke hookeai. e ike ia ka mua symptoms e no hoi a me ka ole, e like me ka mea i hoikeia mai wale ma ka Muscle nawaliwali. He nui e hoailona oukou ia ia ma keia hihia i pono, e hoʻomaka lapaʻau i kakahiaka nui me hiki. Ma hope o nā mea a pau, i ka wa a ke keiki holo i ka pilikia o ka make ma ka kakahiaka nui kona makahiki he okoa hoʻokolohua o ka hanana.

I ka papa o ka maʻi i loko o nā mākua

E hoomanao i pehea na dala i loaa mai, mai na keiki a ka maʻi Pompe (Hawaii photo keiki me keia maʻi e hōʻike mai iā ia i loko o ka 'atikala), e pono e hai mai no hoi oe e pili ana i na symptoms o keia pilikia i loko o nā mākua. No laila, initially ia e hoʻomaopopo i ka mea mua hoailona o ka maʻi hou ma ka hopena o ka adolescence, a me kekahi manawa hope. Pompe maʻi ia lŘlŘ i loko o nā mākua mea nui softer ma mua i loko o na kamalii uuku, aka nae, e pono e hoʻomaka lapaʻau i kakahiaka nui me hiki. I ka papa kuhikuhiE symptoms ma keia hihia:

• Muscle nawaliwali,ʻano nui ka torso a me nā wāwae.
• Naehana hoʻolako 'ole, aia no he diaphragm ole.
• Gait loli i shaky a me ka lolelua.
• Pain i loko o nā nāʻiʻo.
• Maluhiluhi o hiki hoounauna, a hiki e piʻi alapiʻi.
• Ake a me ka naau piʻina ma ka nui.

lapaʻau

E manao Pompe maʻi, i ka iapaau ana E e kaupaona i nā pū. It E e kaulana i ka Makuakane me keia pilikia mea ole ai mea, e hiki ole wale aku nō kāua i ka drugstore, a kuai i kekahi ka lapaʻauʻia. Inā ua nele ka hope Inc ka wā e pono e puku i ka'ūhū i ua kapaia myositis. Ma hope iho o ia, nā mea maʻi, e pau ana Holomua o ka maʻi, a he mea i ka wā o ka mālie. He nui e hoailona oukou i ka malama Inc kōkua i ka malama kupono a me ka ikaika no ka maʻamau ola.