Ke manaʻo nei anei kou puʻuwai e paʻakikī ana? E kamaʻilio kākou e pili ana i ka Transthyretin Amyloidosis (ATTR-CM)

Ke manaʻo nei ʻoe i kekahi manawa ua poniuniu ʻoe ʻoiai ke hele wāwae nei i kahi mamao pōkole? Ke manaʻo nei ʻoe he pōkole ka hanu ke hele ʻoe i kahi moe? Ke pehu nei kou mau wāwae a me kou mau kuʻekuʻe wāwae? Ke kuʻi nei kou puʻuwai me ke ʻano ʻē a wikiwiki paha? ʻOiai ke manaʻo pinepine nei mākou he mau mea maʻamau kēia mau mea e hana ʻia i ko mākou wā ʻelemakule, i kekahi manawa ma hope o kēia mau hōʻailona aia paha kahi kūlana i lohe ʻole ʻia e mākou a hiki ke koʻikoʻi inā ʻaʻole i ʻike pono ʻia. ʻO kekahi o ia mau maʻi ʻo Transthyretin Amyloidosis, a i ʻole ATTR-CM no ka pōkole.

I ka ʻōlelo maʻalahi, he aha ka Transthyretin Amyloidosis (ATTR-CM)?

He inoa paʻakikī iki kēia, no laila e wehewehe kākou i kēlā me kēia huaʻōlelo. A laila e maopopo maʻalahi iā ʻoe.

• Transthyretin (TTR): He ʻano protein kēia i loko o ko kākou kino. Hana ʻia e ko kākou akepaʻa. ʻO kāna hana nui, ʻo ia ke lawe i ka huaora A a me ka hormone thyroid thyroxine ma o ko kākou koko i nā wahi e pono ai i loko o ke kino. Ua like ia me kahi mea lawe ukana e lawe ana i nā pūʻolo.

• Amyloidosis: ʻO kēia ka wā e pelu pono ʻole ai kekahi ʻano protein, e like me ka mea i ʻōlelo ʻia ma luna, a hui pū, a hana i nā fibrils, e like me nā pōpō liʻiliʻi o ke kaula, a waiho ʻia i loko o kā mākou mau kino. Ke waiho ʻia ma kēia ʻano, ua hoʻopilikia ʻia ka hana maʻamau o kēlā mau kino.

• Cardiomyopathy (CM): Pili kēia i kahi maʻi o ka ʻiʻo puʻuwai .

I kēia manawa, no ka hoʻohui ʻana i kēia mau mea a pau, ʻo Transthyretin Amyloidosis (ATTR-CM) kahi maʻi kahi e pelu hewa ai a hui pū ai ka protein TTR, i hana ʻia e ko kākou akepaʻa, ʻoi aku hoʻi i loko o ko kākou ʻiʻo puʻuwai, e hoʻomānoanoa ai a paʻakikī ai ka ʻiʻo puʻuwai, e hiki ʻole ai ke pamu pono i ke koko.

ʻElua ʻano nui o kēia maʻi.

Hiki ke hoʻokaʻawale ʻia ka maʻi ATTR-CM i ʻelua ʻano nui.

1. ʻOhana a i ʻole Hoʻoilina ATTR-CM:

Hoʻokumu ʻia kēia e kahi mutation i loko o kā mākou mau genes. ʻO ke ʻano kēia ua hoʻoilina paha mākou i ka gene no kēia maʻi mai ko mākou makuahine, makuakāne, a i ʻole kekahi o ko mākou ʻohana. Ma kēia ʻano, hiki ke waiho ʻia nā puʻupuʻu protein ʻaʻole wale ma ka puʻuwai, akā ma nā wahi e like me ka ʻōnaehana nerve a me nā puʻupaʻa.

2.ʻAno hihiu ATTR-CM:

ʻAʻole i loaʻa ke kumu kikoʻī o kēia ʻano. ʻAʻole ia he hoʻoilina. ʻIke pinepine ʻia kēia ʻano i nā kāne ma luna o 65 mau makahiki. Hoʻopilikia nui ia i ka puʻuwai a me ka ʻōnaehana nerve.

He aha nā hōʻailona? Pehea mākou e ʻike ai i kēia?

Hiki ke ʻokoʻa nā hōʻailona o kēia maʻi mai kēlā kanaka a kēia kanaka. I kekahi manawa, ʻaʻole paha e hōʻike iki nā poʻe me ke ʻano 'wild-type' i kekahi mau hōʻailona i nā pae mua. ʻOiai inā ʻike ʻia nā hōʻailona, ​​ua like loa lākou me nā maʻi maʻamau o ka hāʻule ʻana o ka puʻuwai, no laila hiki ke paʻakikī i kekahi manawa ke ʻike i kēia maʻi.

ʻO kēia nā hōʻailona i ʻike pinepine ʻia.

Nā pilikia ʻē aʻe e hiki ke kū mai ma muli o kēia maʻi

ʻAʻole wale kēia protein i waiho ʻia i loko o ka puʻuwai. Hiki iā ia ke hana i nā pilikia ʻē aʻe ma o ka waiho ʻana i loko o ka ʻōnaehana nerve a me nā ʻiʻo ʻē aʻe.

• ʻO ka Carpal Tunnel Syndrome: He ʻano kēia kahi e ʻomi ʻia ai kahi aʻalolo e holo ana ma ka pulima. Hiki i nā poʻe me kēia ʻano ke ʻike i kēia ʻano ma nā lima ʻelua . ʻO nā hōʻailona e komo pū me ka maneʻo a me ka ʻeha ma nā manamana lima.
• ʻO ka Neuropathy Peripheral: ʻO kēia ka wā e hōʻino ʻia ai nā aʻalolo o nā lālā. Hiki i kēia ke hoʻoulu i ka mae ʻana, ka ʻūlū ʻana, a me ka ʻeha ma nā lālā.
• Spinal Stenosis: He ʻūmiʻi o ke kahawai kuamoʻo. Hiki i kēia ke hōʻeha i ke kua a me ka ʻeha o nā wāwae.
• ʻO ka haki ʻana o ke aʻalolo: He haki koke ʻana o ke aʻalolo ma ka lima a i ʻole ka wāwae.

Pehea e ʻike pono ai ke kauka i kēia maʻi?

Ma muli o ke ʻano like o nā hōʻailona o kēia maʻi me nā maʻi puʻuwai maʻamau, pono e hana ʻia kekahi mau hoʻokolohua kūikawā e ʻike pololei ai.

• Electrocardiogram (ECG): He hoʻāʻo no ka hana uila o ka puʻuwai.
• Echocardiogram: He scan kēia o ka puʻuwai. Hiki iā ia ke nānā pono i nā mea e like me ka mānoanoa a me ka hana o ka ʻiʻo puʻuwai.
• MRI Cardiac: He scan hohonu hou kēia o ka puʻuwai.
• Iwi Scintigraphy (Bone Scan): He hoʻāʻo kūikawā loa kēia. ʻO kēia scan, ka mea maʻamau e hana ʻia e nānā i nā iwi, hiki ke ʻike inā ua waiho ʻia ka protein amyloid i loko o ka puʻuwai.
• Nā hoʻāʻo koko: Hiki ke hana i kahi hoʻāʻo genetic e ʻike inā he mau loli i loko o ka gene TTR.
• Biopsy o ka Puʻuwai: I kekahi manawa, pono e lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo puʻuwai a nānā ʻia e hōʻoia i ka maʻi.

Aia kekahi lāʻau lapaʻau? Hiki ke ho'ōla loa ʻia kēia?

I kēia manawa, ʻaʻohe lāʻau lapaʻau no ATTR-CM, a ʻaʻohe ala e wehe ai i nā puʻupuʻu protein i hana mua ʻia i loko o ka puʻuwai.

Akā, mai hopohopo. Aia nā lāʻau lapaʻau kūpono loa i kēia manawa e hiki ke kāohi i kēia maʻi, ʻo ia hoʻi, e hoʻōki a hoʻolohi paha i ka hoʻokumu ʻana a me ka waiho ʻana o nā puʻupuʻu protein hou. Hiki i kēia mau lāʻau lapaʻau ke pale aku i ka maʻi mai ka ʻino ʻana.

• Nā Mea Hoʻopaʻa TTR: Hoʻopaʻa nā lāʻau lapaʻau e like me Tafamidis (Vyndaqel®, Vyndamax®) i ka protein TTR a pale iā ia mai ka pelu pono ʻole ʻana.
• Nā mea hōʻoluʻolu TTR: Hoʻemi nā lāʻau lapaʻau e like me Patisiran (Onpattro®) a me Inotersen (Tegsedi®) i ka hana ʻana o kēia protein hemahema e ke akepaʻa.

Ma waho aʻe o kēia mau lāʻau lapaʻau, hiki ke hāʻawi ʻia iā ʻoe nā lāʻau lapaʻau e kāohi i kāu mau hōʻailona. Eia kekahi laʻana:

• Nā lāʻau lapaʻau e kāohi ai i nā maʻi puʻuwai.
• Nā lāʻau lapaʻau no nā maʻi o ka puʻuwai.
• Nā lāʻau lapaʻau no ka paʻa ʻana o ka wai.

He mea kākaʻikahi loa, i nā hihia koʻikoʻi loa o ka maʻi, pono paha e hoʻohana i kahi mea e like me ka hoʻoili ʻana o ke ake, ka hoʻoili ʻana o nā puʻupaʻa, a i ʻole ka hoʻoili ʻana o ka puʻuwai.