He ʻeleʻele anei kou mimi? Luhi mau ʻoe? He PNH paha (Paroxysmal Nocturnal Hemoglobinuria)!

Loaʻa iā ʻoe kekahi loli i ke kala o kou mimi ke ala ʻoe i ke kakahiaka, e lilo ana i ʻulaʻula ʻeleʻele, ʻeleʻele, a i ʻole i kekahi manawa ʻeleʻele? A i ʻole ke manaʻo nei ʻoe ua luhi loa a luhi me ke kumu ʻole i ka lā a pau? Me he mea lā he mau mea maʻamau kēia a mākou e nānā ʻole ai i ko mākou ola o kēlā me kēia lā. Eia nō naʻe, i kekahi manawa pono kēia mau hōʻailona liʻiliʻi i kahi nānā iki, no ka mea, ke hūnā nei paha lākou i kahi maʻi olakino kakaʻikahi akā koʻikoʻi. I kēia lā e kamaʻilio mākou e pili ana i kekahi ʻano maʻi pili koko, PNH, a i ʻole `(Paroxysmal Nocturnal Hemoglobinuria)`. ʻOiai paha he paʻakikī iki ka inoa, e hoʻomaopopo maʻalahi kākou.

He aha ka PNH? E hoʻomaopopo maʻalahi kākou

No laila, he aha ka "Paroxysmal Nocturnal Hemoglobinuria" a i ʻole PNH? He maʻi koko laha ʻole ia. Inā ʻoe e nānā i ke ʻano o ka inoa:

• ʻO ke ʻano o "Paroxysmal" ʻo ia hoʻi ka hikiwawe, ka hana koke ʻana.
• ʻO "Nocturnal" ke ʻano e pili ana i ka pō.
• ʻO "Hemoglobinuria" ka loaʻa ʻana o kahi protein koko i kapa ʻia ʻo "Hemoglobin" i loko o ka mimi. ʻO kēia "Hemoglobin" ka mea e hoʻolilo ai i ko mākou koko i ʻulaʻula. No laila, ke hoʻokuʻu ʻia kēia me ka mimi, lilo ka mimi i ʻeleʻele ke kala.

I ka ʻōlelo maʻalahi, ʻo ka PNH kahi kūlana kahi e hoʻouka ai kāu ʻōnaehana pale a luku i kāu mau hunaola koko ʻulaʻula ponoʻī . Ua kapa nā kauka i kēia he "Hemolysis" a i ʻole ka haki ʻana o nā hunaola koko ʻulaʻula. ʻO kekahi o nā hōʻailona nui o kēia, ʻo ia ka mimi ʻeleʻele, ʻulaʻula/ʻeleʻele ke mimi ʻoe i ka pō a i ke kakahiaka nui paha.

Eia nō naʻe, hoʻokahi wale nō hōʻailona o kēia mimi ʻeleʻele o ka PNH. Inā ʻaʻole mālama pono ʻia kēia ʻano, hiki iā ia ke alakaʻi i nā kūlana koʻikoʻi e like me ka anemia , ka maʻi puʻupaʻa mau , a i ʻole nā ​​​​​​pā koko i loko o nā kīʻaha koko . ʻO ka mea pōmaikaʻi, aia i kēia manawa nā lāʻau lapaʻau kūpono e pale aku i ka PNH mai ka hōʻino ʻana i nā hunaola koko.

ʻO wai ka mea hiki ke hoʻomohala i kēia?

He maʻi laha ʻole ka PNH. Wahi a nā helu helu, ma kahi o 6 o 1 miliona mau kānaka i ʻike hou ʻia me kēia maʻi i kēlā me kēia makahiki. ʻO ka hapa pinepine, ʻike ʻia kēia ʻano maʻi i nā kāne a me nā wahine ma waena o 30 a me 40 mau makahiki. Eia nō naʻe, ua ʻōlelo ʻia hoʻi he ʻoi aku ka nui o ka loaʻa ʻana o ka PNH i nā wahine ma mua o nā kāne.

ʻO kekahi mea ʻē aʻe, i kekahi manawa, hiki i ka poʻe me nā maʻi iwi ʻē aʻe, no ka laʻana, nā kūlana e like me `(Aplastic Anemia)` a i ʻole `(Myelodysplastic Syndrome)`, ke loaʻa iā lākou ka PNH ma hope.

He aha ka ʻokoʻa ma waena o ka Hemoglobinuria a me ka Hematuria ?

Ua huikau iki ʻoe ke lohe ʻoe i kēia mau huaʻōlelo ʻelua ( huikau)- huikau, he Tamil kēia, pono wau e pale aku. E ʻae mai iaʻu e hoʻololi i nā huaʻōlelo: E huikau iki paha ʻoe ke lohe ʻoe i kēia mau huaʻōlelo ʻelua.) E huikau iki paha ʻoe ke lohe ʻoe i kēia mau huaʻōlelo ʻelua. No ka mea, ma nā hihia ʻelua, ʻo ka mea e hana ʻia ana, aia ke ʻano e like me ke koko i loko o ka mimi.

• ʻO Hematuria ka loaʻa ʻana o nā hunaola koko ʻulaʻula i loko o kou mimi.
• ʻO ka Hemoglobinuria (ʻo kēia ka mea a mākou e ʻike ai i kā mākou PNH) ʻo ia ke alo o kahi protein i kapa ʻia ʻo hemoglobin i loko o ka mimi. Ke wāwahi nā hunaola koko ʻulaʻula, hoʻokuʻu ʻia kēia hemoglobin a hoʻohui ʻia i ka mimi.

I ka ʻōlelo maʻalahi, hele kekahi i nā ʻāpana holoʻokoʻa, a hele kekahi i ka mea ʻulaʻula e puka mai ana i ka wā e haki ai nā ʻāpana.

He aha ke kumu o ka PNH? No ke aha e hana ai kēia?

ʻO ke kumu nui o ka PNH he kīnā i loko o kahi gene i loko o ko mākou kino. Hoʻopilikia kēia kīnā gene i ka hana o ʻelua ʻano hunaola koko, nā hunaola koko ʻulaʻula a me nā platelets. Hoʻomaka kēia i kahi kaulahao o nā hanana e alakaʻi ai i nā pilikia kekahi ma hope o kekahi, i kekahi manawa he mau kūlana hoʻoweliweli ola.

Hoʻomaka ia mea a pau i loko o ko kākou iwi iwi . Ua ʻike ʻoe, ua like ka iwi iwi me ka hale hana koko i loko o ko kākou kino. Maanei kahi e hana ʻia ai nā hunaola kumu. Ma hope mai, ulu kēia mau hunaola kumu i loko o nā hunaola koko ʻulaʻula, nā hunaola koko keʻokeʻo, a me nā platelets.

I loko o ka PNH, hana ʻia kahi mutation a i ʻole kahi loli i loko o kahi gene i kapa ʻia ʻo "PIGA" i loko o hoʻokahi cell kumu. Māhele kēia cell kumu i loli a hana i nā cell kumu kīnā like. A laila hana kēia mau cell kumu kīnā i nā cell koko ʻulaʻula a me nā platelets kīnā.

Pehea ka hopena o kēia loli hoʻoilina i nā hunaola koko ʻulaʻula?

E noʻonoʻo i kēia ʻano: ua like ko kākou ʻōnaehana pale kino me ka pūʻali koa pale o ko kākou ʻāina. ʻO kekahi o kona mau pūʻali koa kūikawā ua kapa ʻia ʻo ka 'Complement System' . ʻO kā lākou hana ke kaua aku i nā germs a me nā maʻi e komo i loko o ke kino. Eia nō naʻe, i kekahi manawa hoʻomaka nā protein i loko o kēia '(Complement System)' e hoʻouka i kā kākou mau hunaola koko ʻulaʻula olakino ponoʻī ma ka hewa.

He uhi protein pale e like me ka pale o kahi huna koko ʻulaʻula maʻamau a olakino hoʻi e pale aku iā ia mai ia mau hoʻouka kaua. ʻO ke gene `PIGA` i ʻōlelo ʻia ma mua e kōkua i ka hana ʻana i kēia pale pale. No laila, ke hoʻololi ʻia ke gene `PIGA`, ʻaʻole hiki iā ia ke hana pono i kēia pale pale. A laila, eia ka mea e hana ʻia:

1. Hoʻouka a me ka Haʻihaʻi: Ke hoʻouka kāu "ʻŌnaehana Hoʻohui" i kēia mau hunaola koko ʻulaʻula pale ʻole, e haki maʻalahi kēlā mau hunaola a haki. ʻO nā "Hemoglobin" a pau i loko o nā hunaola koko ʻulaʻula - ʻo ia hoʻi, ka protein ʻulaʻula e lawe ana i ka oxygen - e hoʻokuʻu ʻia i loko o ke koko. Kāhea nā kauka i kēia he "Hemoglobin Manuahi" .

2. Ka hemahema o ka ʻōnaehana hoʻomaʻemaʻe:ʻO ka maʻamau, loaʻa i ko mākou kino kahi mea i kapa ʻia ʻo "Haptoglobin" e hoʻopaʻa a wehe i kēia hemoglobin manuahi. Akā i loko o ka PNH, ʻo ka nui o nā hunaola koko ʻulaʻula i wāwahi ʻia ua kiʻekiʻe loa ia ʻaʻole hiki i kēia hui hoʻomaʻemaʻe ke hoʻomau.

3. Ka hemahema o ka Nitric Oxide: Hoʻohana ke kino i kahi ala ʻē aʻe e hoʻokele ai i kēia hemoglobin keu, a ʻo ia kahi kemika i kapa ʻia ʻo nitric oxide. Akā pau koke kēia. Ke lawa ʻole ka nitric oxide i kou kino, hiki iā ʻoe ke ʻike koke i nā ʻeha koʻikoʻi a ʻeha hoʻi i loko o kou ʻōpū, esophagus (ka paipu e holo ana mai kou puʻu a i kou ʻōpū), a me nā ʻiʻo kua.

4. Anemia: Ma kekahi ʻaoʻao, i ka wā e luku ʻia ai nā hunaola koko ʻulaʻula, ma kekahi ʻaoʻao, nui ke kaomi ma luna o ka iwi iwi e hana i nā hunaola koko ʻulaʻula hou. Eia naʻe, i ka wā ʻaʻole hiki ke hana ʻia i ka wikiwiki like me ka luku ʻia ʻana, emi ka helu o nā hunaola koko ʻulaʻula i loko o ke kino. ʻO kēia ka mea a mākou e kapa nei he anemia .

5. Ka hōʻino ʻana o nā puʻupaʻa: ʻO kēia hemoglobin keu e hōʻino pū i nā puʻupaʻa. Ua ʻōlelo ʻia he ʻeono manawa ka nui o ka pilikia o ka poʻe me PNH i ka loaʻa ʻana o nā maʻi puʻupaʻa mau .

6. Mimi ʻeleʻele: ʻO ka mea hope loa, hoʻopilikia pū kēia hemoglobin manuahi i ka mimi. Nui ka poʻe me PNH e ʻike paha i ka mimi ʻeleʻele i ka wā e mimi ai lākou i ka pō a i ke kakahiaka nui paha. ʻO kēia no ka mea e piʻi ana ka nui o ka hemoglobin i loko o ka mimi, e hoʻolilo ana i ka mimi i ʻeleʻele.

I ka ʻōlelo maʻalahi, ma muli o ke kīnā i loko o ka gene `PIGA`, ua nalowale ka pale pale o nā hunaola koko ʻulaʻula, a ua luku ʻia lākou e ka ʻōnaehana pale ponoʻī, e hana ana i kahi kaulahao o nā pilikia.

Pehea ka hopena o kēia loli hoʻoilina i nā platelets?

ʻO nā platelets kekahi ʻano nui o nā cell i loko o ko kākou koko. Kōkua lākou i ka hoʻōki ʻana i ke kahe ʻana o ke koko ma o ka hana ʻana i nā clots koko. Hoʻopilikia ka mutation i loko o ka gene PIGA i nā cell kumu e hana ana i nā cell koko ʻulaʻula a me nā cell kumu e hana ana i nā platelets.

ʻO kēia ke kumu o ka hana ʻana o nā platelets hemahema i nā ʻūpā koko he nui ma mua o ka maʻamau . ʻO ia hoʻi, hiki ke hana ʻia nā ʻūpā koko ma nā wahi i pono ʻole ai lākou, i loko o nā kīʻaha koko. Ua kapa ʻia kēia he `(Thrombosis)` (thrombosis). He mea weliweli loa kēia, no ka mea, inā hele kēia mau ʻūpā koko i ka lolo, ka puʻuwai, a i ʻole nā ​​māmā, hiki iā lākou ke hoʻoweliweli i ke ola.

He aha nā hōʻailona o ka PNH?

ʻOiai ua loaʻa ka inoa PNH mai kahi hōʻailona hoʻokahi (mimi ʻeleʻele), nui ka poʻe me PNH e ʻike mua i ke kauka ma muli o ka luhi nui a mau loa e paʻakikī ai iā lākou ke hana i kā lākou hana o kēlā me kēia lā . ʻO kēia ka hōʻailona maʻamau i hōʻike ʻia.

ʻO nā hōʻailona ʻē aʻe paha:

• Paʻakikī ka hanu ʻana (`(Dyspnea)`)
• Nā pilikia puʻupaʻa (e like me ka emi ʻana o ka mimi ʻana, nā wāwae pehu)
• Ka paʻakikī i ka ale ʻana i ka meaʻai (Dysphagia)
• Nā Spasms Esophageal
• ʻEha ʻōpū
• ʻEha hope
• Ka hana ʻino o ke kāne (`(Erectile Dysfunction)`)

Inā loaʻa iā ʻoe kekahi a ʻoi aku paha o kēia mau hōʻailona, ​​​​ʻoiai me ka loli o ke kala o ka mimi, ʻoi aku ka maikaʻi e ʻimi i ke aʻo lapaʻau.

Pehea e ʻike ai nā kauka i ka PNH? (Diagnosis)

Ke ʻike ʻoe i ke kauka, e nīnau lākou iā ʻoe e pili ana i kāu mau hōʻailona a nānā iā ʻoe. A laila, inā manaʻo lākou he PNH kou, e hana paha lākou i kekahi mau hoʻokolohua e hōʻoia iā ia.

ʻO nā mea nui ma waena o kēia mau mea:

• Helu Koko Piha (CBC me ka ʻokoʻa): Nānā kēia i nā pilikia koko ʻē aʻe, e like me ka anemia a me ka helu platelet haʻahaʻa (thrombocytopenia).
• Papa Metabolic Kumu (BMP): Nānā kēia i ka hana o nā puʻupaʻa a me nā hōʻailona o ka maʻi puʻupaʻa mau loa.
• Urinalysis: Hiki i kēia ke ʻike i nā mea e like me ke alo o ka hemoglobin i loko o ka mimi (Hemoglobinuria) a me ka waiho ʻana o ka hao keu (Hemosiderosis).
• Helu Reticulocyte: He mau hunaola koko ʻulaʻula ʻōpiopio nā Reticulocytes. Helu ʻia kēia mau mea e ʻike ai inā e hana ana ka iwi iwi i nā hunaola koko ʻulaʻula olakino.
• Hoʻāʻo Haptoglobin: ʻO kēia protein ke kuleana no ka wehe ʻana i nā huahana ʻōpala mai nā hunaola koko ʻulaʻula i haki. ʻO nā pae haʻahaʻa e hōʻike paha i ka haki nui ʻana o nā hunaola koko ʻulaʻula.
• Hoʻāʻo Lactate Dehydrogenase (LDH): ʻO ka LDH kahi enzyme i loaʻa i loko o nā hunaola koko ʻulaʻula. ʻO ke kiʻekiʻe o kēia i loko o ke koko e hōʻike ana ua luku ʻia nā hunaola koko ʻulaʻula.
• Hoʻāʻo Hana Ake: Ke ana kēia hoʻāʻo i ka pae o ka bilirubin i ka wā e wāwahi ʻia ai nā hunaola koko ʻulaʻula.

Ma muli o nā hopena o kēia mau hoʻokolohua, inā he kānalua hou aʻe ko ke kauka e pili ana i ka PNH, hiki iā ia ke kauoha i kahi hoʻokolohua koko kūikawā i kapa ʻia ʻo "Flow Cytometry." ʻO kēia ka mea e hiki ai ke ʻike pololei i nā hunaola koko ʻulaʻula i loaʻa ka PNH.

He aha nā lāʻau lapaʻau no ka PNH?

I ka wā ma mua, ua manaʻo ʻia ʻo PNH he maʻi weliweli loa a paʻakikī hoʻi e mālama. I kēlā manawa, ʻo ka lāʻau nui ka hoʻoili koko mau ʻana e mālama i ka anemia. Eia nō naʻe, ʻo ka poʻe me PNH e ola mau ana no 10 a 22 mau makahiki ma hope o ka hōʻoia ʻana. ʻO ke ala wale nō e ho'ōla loa ai i ka PNH, ʻo ia ke hana ʻana i kahi hoʻoili cell stem allogeneic . A ʻaʻole ia he mea hiki i nā mea āpau ke hana.

Akā, ua ʻokoʻa loa ke kūlana i kēia manawa!

ʻO ka mea pōmaikaʻi, aia i kēia manawa nā lāʻau lapaʻau kūpono loa no ka PNH. Ua kapa ʻia kēia mau mea he mau mea hoʻopale hoʻopihapiha.ʻO ka hana a kēia mau lāʻau lapaʻau, ʻo ia ke kāohi i ka "Complement System" mai ka hoʻouka ʻana a me ka luku ʻana i nā hunaola koko ʻulaʻula.

Ua hōʻike ʻia nā haʻawina e hiki i nā poʻe maʻi PNH e loaʻa ana i kēia mau lāʻau lapaʻau hou ke ola i kahi ola maʻamau, e like me kekahi me ka ʻole o ka PNH. He hoʻokō nui maoli kēia!

Aia kekahi mau hopena ʻaoʻao o ka lāʻau lapaʻau?

ʻAe, hiki i kēia mau lāʻau lapaʻau '(Complement Inhibitors)' ke loaʻa kekahi mau hopena ʻaoʻao. No ka laʻana, hiki i kekahi poʻe ke loaʻa nā mea e like me ke poʻo ʻeha a me ka nausea. Eia naʻe, ʻo ka nūhou maikaʻi, ʻo ka hapa nui o kēia mau hopena ʻaoʻao e nalowale i loko o kekahi mau lā o ka hoʻomaka ʻana o ka lāʻau. E haʻi aku kāu kauka iā ʻoe e pili ana i kēia.

Hiki ke pale ʻia ka PNH? Hiki ke ho'ōla ʻia?

Ma muli o ke kumu o ka PNH e kahi hoʻololi genetic, ʻaʻohe ala e pale aku ai.

Ma ke ʻano o ka mālama ʻana, hiki i nā lāʻau lapaʻau "Complement Inhibitor" hou ke hoʻōki i ka hōʻino ʻana i nā hunaola koko ʻulaʻula a me nā platelets i hoʻokumu ʻia e ka PNH. ʻO ia hoʻi, hiki ke kāohi ʻia ka maʻi. Pono paha ka nui o nā maʻi PNH i ka mālama hou ʻana no nā kūlana e like me ka anemia. E like me ka mea i ʻōlelo ʻia ma mua, ʻoiai hiki ke hana ʻia kahi "Stem Cell Transplant", he lāʻau paʻakikī loa ia. Me nā lāʻau lapaʻau o kēia manawa, hiki ke mālama maikaʻi ʻia ka maʻi a hiki i nā kānaka ke ola i ke ola maʻamau.

Pehea ʻoe e mālama ai iā ʻoe iho ma ke ʻano he kanaka me PNH?

ʻOiai me ka mālama ʻana, he mea nui loa iā ʻoe ke hana i nā hana e pale aku ai i nā ʻūpā koko inā loaʻa iā ʻoe ka PNH. Eia kekahi laʻana:

• Inā pono kekahi me PNH e hana i ke ʻoki kino , aia kahi pilikia o ke koko ʻana a me ke kahe nui ʻana o ke koko i ka wā o ke kaʻina hana. No laila, akahele loa nā kauka i kēia.
• He pilikia olakino ka hāpai ʻana no nā wahine me PNH, no lākou iho a no kā lākou keiki i hānau ʻole ʻia. No laila, he mea nui e noho ma lalo o ka nānā ʻana a kahi loea ma mua a ma ka wā o ka hāpai ʻana.

E aʻo aku kāu kauka iā ʻoe i nā hoʻololi e pono ai ʻoe e hana i kou nohona, nā mea e pono ai ʻoe e makaʻala ( makaʻala , he Sanskrit/Malayalam kēia, pono wau e pale aku. E ʻae mai iaʻu e hana hou i nā ʻōlelo: nā hoʻololi e pono ai ʻoe e hana i kou nohona, nā mea e pono ai ʻoe e makaʻala.) nā hoʻololi e pono ai ʻoe e hana i kou nohona, nā mea e pono ai ʻoe e makaʻala. He mea nui loa ka hahai ʻana i kēlā ʻōlelo aʻo.

ʻO ka mea hope loa, ʻo ka mea nui loa (Leka Lawe-Home)

ʻO ka PNH, a i ʻole "Paroxysmal Nocturnal Hemoglobinuria", he maʻi koko kakaikahi akā hiki ke koʻikoʻi. Ma kahi o 20 mau makahiki i hala aku nei, ua kaupalena ʻia nā koho lapaʻau a me kahi wā e hiki mai ana i maopopo ʻole.

Akā i kēia lā, ʻokoʻa loa ke kūlana! Mahalo i nā lāʻau lapaʻau hou a me kēia au, hiki i ka poʻe me PNH ke mālama i ko lākou mau hunaola koko, pale i nā pilikia koʻikoʻi, a ola i nā ola piha a olakino.

Inā ua ʻike ʻia ʻoe me ka PNH, mai hopohopo. E wehewehe kāu kauka i nā koho lapaʻau kūpono loa iā ʻoe. ʻOiai ʻaʻole hiki i ka lāʻau ke ho'ōla piha i ka PNH, hiki iā ia ke kōkua i ka pale ʻana i nā pilikia olakino koʻikoʻi i hoʻokumu ʻia e ka maʻi a kōkua iā ʻoe e ola i kahi ola olakino. ʻO ka mea nui loa, ʻo ia ke ʻimi koke i ke aʻo lapaʻau inā loaʻa iā ʻoe nā hōʻailona a hahai pono i ka lāʻau lapaʻau e like me ke kuhikuhi ʻia.

ʻO PNH, Paroxysmal Nocturnal Hemoglobinuria, Nā Maʻi Koko, Hemoglobinuria, Anemia, Ke Koko ʻana, Nā Maʻi Pūpū