Pearson syndrome: Tohu me te rongoā

syndrome o Pearson - ko te mate rawa onge ira e faaite ake i roto i te kōhungahunga tenei, a i roto i nuinga o te wā arata'i ki te mate wawe.

History o whakahura

Ko tētahi atu ingoa mō te syndrome o te Pearson - he congenital anemia sideroblastic ki iti hoki pancreatic exocrine. ingoa te mate te i muri i te pūtaiao e tuatahi fakamatala'i reira i roto i te 1979 - N. A. Pirsona. Kua mohio te syndrome kua i roto i te mātakitaki roa o ngā tamariki e wha me tohu rite: kite ratou anemia sideroblastic, e kore he aro ki te maimoatanga paerewa, te kore o exocrine mahi pancreatic me māuiuitanga o ngā pūtau wheua wheua i.

I te tuatahi, hoatu te tamariki i te tātaritanga rerekē - Shvahmana syndrome (hypoplasia congenital o te repe taiaki). Otiia i muri i ui ki te toto me te wheua wheua e i kitea rerekētanga kitea, i hoatu take ki te whakanui i syndrome o Pearson rite te kāwai motuhake.

Ko te take o te mate

Rangahau ki te take o te mate ka mau e pā ana ki tekau nga tau. i taea e ki te kitea he koha ira e tika ana ki te wehenga me te tāruarua o te DNA punaraungao Doctors geneticists.

Ahakoa he ira te mate, te tikanga puta noa irakētanga, ka whanau te tamaiti manawanui kei ki te mātua maitai hauora. I te tahi taime i reira he he hononga i waenganui i te aroaro o te mate kanohi i roto i te whaea, me te whanaketanga o te syndrome o Pearson i roto i tona tamaiti.

Ka taea te whakakitea hē DNA i roto i te hinu wheua wheua, atsinotsitah repe taiaki, me te whēkau e kore e te ūnga matua o te mate i - tākihi, uaua ngakau, hepatocytes. I te tahi atu te ringa, te tahi mau tūroro i roto i te aroaro o angamaheni pikitia haumanu me te taiwhanga, me kore ki te rēhita huringa i roto i te DNA punaraungao.

tamariki e mate haere whakaeminga rino i roto i te ate, sclerosis glomerular, tākihi hanganga whēwhē. I roto i ētahi wā, kei te whakawhanake i te reira kakakīrehe myocardial, e tika ana ki te kore ngakau.

secretes te repe taiaki nui iti o lipase, amylase me te warorua i roto i ngā tūroro katoa ki te mate Pearson. Atrophy syndrome faaite repe kiko, me ona kakakīrehe muri.

tikanga o te tātaritanga

Ki te whakawhirinaki tātaritanga taea iranga anake kaiwhakaako i muri i ui i te DNA punaraungao. Ko te wāhi nui takaro e te tātari mua o te toto piringa: tautuhi macrocytic kino anemia, neutropenia me thrombocytopenia. Rongonui ko te ngaro o te pānga o te maimoatanga o te anemia "cyanocobalamin" me taka rino.

Nā ki te wheua wheua poka taea te kite i te hekenga i roto i te katoa maha o ngā pūtau, te aroaro o vacuoles i te ahua o erythroblasts me sideroblasts marae.

tohu mate

Mai i nga ra tuatahi o te ora whakapae te tamaiti te syndrome o Pearson. Tohu o te tuatahi mate i roto i nga kohungahunga i roto i te puka o te anemia whakarihariha, me te mate huka taiāki-ti'aturi. Kitea kiri ha ma, te momoe, lethargy, korere, ruaki recurrent, e kore e whiwhi i te tamaiti taimaha. Te kai e kore e tata te riro, āhuatanga e steatorrhea. He tohu o te mate huka, nui haere ngā taumata toto kūhuka, me i reira ko te haafifi i ki acidosis. Pea te whanaketanga o te ate, tākihi me te kore ngakau.

I te tahi taime i roto i te tua ki te anemia, puta pancytopenia (takarepa kore anake erythrocytes engari ano leukocytes me platelets), e ka i te haafifi i ki toto me mate o te wahi tāpiritanga.

Treatment me te waitohunga

Kia aroha mai, tākuta tonu kahore e mohio me pehea ki te riro i te syndrome Pearson. Te rongoā o kore-motuhake, me te whakarato i te reira hua wā-poto anake.

e kore te mea Nireaha ki te therapy paerewa anemia, ka rapu utu e huhu toto auau. Hoki te whakapai ake i ngā mahi pancreatic whakaritea whākōkī fariiraa, a mo te ako o abnormalities pūkoro - whaowhia therapy. I roto i te wā onge te transplant wheua wheua.

syndrome o Pearson kua he waitohunga rawakore: ngenge tamariki i roto i te whanaketanga ā-tinana, te mate te nuinga i mua i rua tau. I roto i te wā onge, e ora te tūroro whakawhetai roa ki te therapy tiaki whai hua, engari i muri mai i roto i te ora te mate arata'i ki uaua atrophy āhuatanga o te syndrome Kearns-Sayre.

Ko te pakeke o te mate tei te nuinga i runga i te tohu o pāpaka DNA.