La nā microsic fibrosis, Kahea pu ia nā microsic fibrosis, he maʻi genetic e hōʻike nui ʻia e nā hōʻailona hanu a me ka digestive.

ʻO ia ka maʻi maʻi maʻamau pinepine i ka heluna kanaka o ka Caucasian kumu (ka maʻi ma kahi o 1/2500).

ʻO ka cystic fibrosis ke kumu o ka hoʻololi ʻana i kahi gene, ka Gene CFTR, ka mea e hoʻopilikia ai i ka protein CFTR, i komo i ka hoʻoponopono ʻana i ka hoʻololi ʻana o nā ion (chloride a me ka sodium) ma waena o nā cell, ʻo ia hoʻi ma ke kiʻekiʻe o ka bronchi, ka pancreas, ka ʻōpū, nā paipu seminiferous a me nā ʻili hou. . ʻO ka pinepine, ʻo nā hōʻailona koʻikoʻi loa ka hanu (nā maʻi, paʻakikī i ka hanu ʻana, ka nui o ka hana mucus, etc.), pancreatic a me ka ʻōpū. ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau i kēia manawa, akā ʻo ka mālama mua ʻana e hoʻomaikaʻi i ka maikaʻi o ke ola (ka mālama hanu a me ka mālama meaʻai) a mālama i ka hana o ke kino e like me ka hiki.

He koʻikoʻi kēia maʻi mai ka wā kamaliʻi mai a pono e mālama mua ʻia. ʻO ia ke kumu i Palani, pōmaikaʻi nā keiki hānau hou mai ka nānā ʻana no ka cystic fibrosis, ma waena o nā kūlana ʻē aʻe. Ma Kanada, hāʻawi ʻia kēia hoʻokolohua ma Ontario a me Alberta. ʻAʻole i hoʻokō ʻo Quebec i ka screening systematic.

Hana ʻia ka hoʻāʻo ma ke ʻano he ʻāpana o ka nānā ʻana no nā maʻi like ʻole ma ka 72st hola o ke ola o nā keiki hānau hou, mai kahi laʻana koko i lawe ʻia ma ke kui kuʻekuʻe wāwae (Guthrie test). ʻAʻole pono ka hoʻomākaukau.

Hoʻokomo ʻia ka kulu o ke koko ma luna o ka pepa kānana kūikawā, a maloʻo ma mua o ka hoʻouna ʻana i kahi keʻena hoʻokolohua. I loko o ka hale hana, ua hana ʻia kahi immunoreactive trypsin (TIR) ​​​​assay. Hana ʻia kēia mole mai trypsinogen, i hoʻohui ʻia e ka pancreas. Pākahi i loko o ka ʻōpū liʻiliʻi, ua hoʻololi ʻia ka trypsinogen i trypsin ikaika, kahi enzyme e hoʻokani i kahi hana i ka ʻeli ʻana o nā protein.

I na keiki hou me nā microsic fibrosis, pilikia ka trypsinogen i ka ʻōpū no ka mea ua paʻa ia i loko o ka pancreas e ke ʻano o ka ʻūhā mānoanoa. Ka hopena: komo ia i loko o ke koko, kahi i hoʻololi ʻia ai i trypsin "immunoreactive", a laila aia i nā mea kiʻekiʻe kiʻekiʻe.

ʻO kēia mole i ʻike ʻia i ka wā o ka hoʻāʻo ʻana ʻo Guthrie.

Inā hōʻike ka hōʻike i ke ʻano o ka nui abnormal o immunoreactive trypsin i loko o ke koko, e hoʻopili ʻia nā mākua no ka hoʻomaʻamaʻa hou ʻana i ka pēpē hānau hou e hōʻoia i ka ʻike o ka cystic fibrosis. He nīnau ia no ka ʻike ʻana i ka mutation (s) o ke ʻano CFTR.

Hiki ke hana ʻia kahi ho'āʻo "sweat" no ka ʻike ʻana i ke kiʻekiʻe o ka chlorine i loko o ka hou, ʻano o ka maʻi.