Mate o te huri

pāngia mate o huri te i roto i te wiki tuatahi o te ora. huru no te mate e mate taimaha whakaari, me ahu whakamua tetere puku katoa. hāngai ēnei tohu e i runga i te whakarahi o te ate, me te kōateate. mate Niemann-Pick ai taikiri tetere, me te kōwhaitanga o te kiri, i roto i ētahi wā, i reira he leukocytosis me hypercholesterolemia. puta te mate manawanui rite ki te hua o te rohirohi e tipu me te korere. whakakitea te tūpāpaku ate puru hipi, kōateate, taikiri rahi i roto i te rahi. mate o te huri ai te tae adrenal me whekau katoa i roto i te tae kanapa kōwhai. Ko e tika ana ki te waipara o phosphatides i roto i te kopa pūtau tenei. kia roa lipids i roto i muka cardiac, ngā pūtau io, uaua kōhiwi, epithelial me okana endocrine.

Ko te mate o te huri i tona turanga, me disorders o phosphatide pākia lipid. Ko te mate, ko te mau tamaroa congenital me te utuafare,
a mamae ōrite maha kōtiro. Kei te kitea te nuinga pinepine mate Niemann-Pick
i roto i Ashkenazi Hurai, i roto i te tahi atu te wā, puta te mate i roto i
1: 100 000 whakatupuranga ora.

tahi te mate e pāpaka nui o te pūnaha io, he takaware whanaketanga whānui. mate o te huri tuatahi whakaahuatia i roto i te 1922, ki te rā e pā ana ki te 100 whakaahuatia take. take
he unknown mate, engari ko tetahi o nga āhuatanga kino te taiao
hononga o ngā mātua o te tamaiti.

Ko te faaiteraa haumanu o te mate riro i roto i te aruaruraa, tino maha i roto i te hawhe tuatahi o te ora hou. E, Heoi, whakamārama marara o tohu haumanu o te mate i roto i te tamarikitanga, me te ara taitamariki tau. Ina e, te manawanui whakawhanakehia ascites, tino nui haere taikiri. titiro pīataata me parikoriko kiri, i reira he wāhi pigmented.

I nga wāhanga tuatahi o te mate puta disorders kaupapa - tohu pyramidal, nui haere reflexes iohere me reo uaua,
paresis alangá. I roto i te wāhanga i muri mai o te mate o te Pick āhuatanga e
hypotonia uaua me te ngaro o reflexes iohere. hohoro te tamaiti
whakawhanake turi, matapo me idiocy. I runga i te fundus te maha kitea
atrophy o te karere whatu me te wahi i roto i te rohe macular. A, no te maha tāuta rangahau pou-tūpāpaku leukopenia me anemia hypochromic.

Matapae mō te ora kino - he mate āhuatanga e te akoranga mārere. mate te nuinga tūroro i roto i te rua tau tuatahi o te ora. Ko te take o te mate, ko te manawa-pūkahukahu iti hoki, me te mate intercurrent.

maimoatanga tōtika mo te mate Niemann-Pick mō tenei ra e kore e tīari. Hoki maimoatanga tono hormones, whākōkī, tangohanga ate, toto huhu. Heoi, enei tikanga katoa o pai
e kore e hoatu e te hua, me te splenectomy. I roto i te tikanga ki te ārai i te mate,
ngā mātua o te tamaiti ki te mate o te Pick, e tūtohu ana ki te pehi i
uri anō.

momo o tupu o te mate e kore kua ano i whakaturia, kia rite ki te mate tūroro i roto i te aruaruraa. Kei te hai tuku te mate i roto i te tikanga ngoikore autosomal. arata'i tenei ki te haaputuputuraa i roto i te kopa, me okana o sphingomyelin, a ka riro te kiri o te tamaiti kauruku hāurakaho-kōwhai. I roto i ngā taatou, te rere mate o te pūnaha io pānga i roto i te rerekē nekehanga. Whakakitea te hekenga o platelets, anemia, wheua kiko tamarûraa. E tamariki ki tenei mate kahore he pāpaka nui o te pūnaha io, i te waitohunga atu pai mō te ora.