He aha te mea te syndrome Alport?

syndrome Alport Ko te mate tuku, āhuatanga nei i te whakaiti hāngai ngā o te mahi tākihi me rongo disorders ara kite ranei. I reira, i roto i to tatou whenua tenei ahua o te mate i roto i ngā tamariki (te nuinga) he ope o e pā ana ki 17: 100 000.

Ko te take matua

E ai ki te tohunga, meinga syndrome Alport te tika ki abnormalities i te ira, kei nei i roto i te ringa roa o te pūira X i roto i te rohe 21-22q pera-ka karanga. I tua atu, he hoki takahi o pera-ka karanga hanganga wāhi o te momo collagen 4 te take o te mate. I raro i collagen i matau i roto i te pūtaiao o te pūmua taua i te mea he wāhanga tika o te kiko tūhonohono i whakarato elasticity me te tonu.

tohu

syndrome Alport Ko te tikanga tuatahi hanga ite iho i roto i ngā tamariki te pakeke i rima ki te tekau tau, a kua whakakitea i roto i te puka o te hematuria (toto i roto i te mimi ki te kitea). Nuinga o ngā wā, i kitea tenei tātaritanga te i tupurangi, e ko, i te whakamātautau i muri i te mātanga. I tua atu, faaite Alport syndrome iho rite te stigmas dizembriogeneza pera-ka karanga. Ko te ine āhua iti e kore e e tākaro he wāhi motuhake i roto i te mahi o nga pūnaha matua o te tinana tenei. mea Doctors epikant (faarahi iti i te kokonga i roto rawa o te kanohi), rangi nui, he deformation iti o e rua taringa, me te tahi atu tohu. Ōrite mate rongo ko ano hoki he tohu pono o te mate, ka pāngia rongo mate te ake maha i roto i te mau tamaroa. maha e whakaatu ake katoa o te tohu i runga ake i roto i te taiohitanga, i te noa ma'i täkihi hanga ite iho i roto i te pakeketanga anake.

Tātarihia te

syndrome Alport i roto i ngā tamariki i te nuinga o pāngia e hāngai ana i runga i te aroaro o tenei ahua o raraunga mate i roto i te tahi atu melo o te utuafare. Hei tauira, ki te whakaū i te mate nui ōrite e toru o nga paearu e rima tabulahia i raro nei:

• rongo mate;
• take tahuti o ma'i whanaunga täkihi;
• te haamauraa o hematuria i te whānau;
• māuiuitanga kanohi;
• aroaro o huringa motuhake i roto i tākihi unuhanga.

maimoatanga

I roto i te ngaro o te maimoatanga motuhake, Me tuatahi kaiwhakaako ki pōturi te ahunga whakamua o te hēnga o ōna whatukuhu. Ki tenei tātaritanga rite te mate o Alport, he mahi tino tapu tamariki, whakatakoto reira he kai whārite. utua aro nui te ki te pera-ka karanga whakanohonoho o aronga hopuhopu. Whakamahi i roto i te maimoatanga o cytostatics me ngā taero hormonal whakatairanga whakapai ake. Heoi, te nuinga o maha whakaritea he transplant tākihi rite hamani maitai. Me kï reira e te rapunga o haematuria kahore mate rongo nui i roto i te whānui, ko te ahua akoranga atu pai o te waitohunga mate. I roto i te āhuatanga o tenei ahua o te mate täkihi pāngia te rawa uaua.