He aha ka Pyruvate Kinase Deficiency? E kamaʻilio maʻalahi kākou e pili ana i ia mea!

I kēia lā, e kamaʻilio mākou e pili ana i kahi kūlana genetic kakaʻikahi, akā he mea nui loa. Ua kapa ʻia kēia ʻo 'Pyruvate Kinase Deficiency'. E noʻonoʻo, aia kahi enzyme kūikawā i loko o ko mākou kino e kōkua ana i nā hunaola koko ʻulaʻula e hana i ka ikehu, a ua kapa ʻia ʻo 'Pyruvate Kinase'. No laila, i ka wā ʻaʻole lawa kēia enzyme i loko o ke kino (ʻo ia ka mea i kapa ʻia he deficiency), ʻaʻole i loaʻa i kēlā mau hunaola koko ʻulaʻula ka ikaika e hana pono i kā lākou hana, a hoʻomaka lākou e wāwahi koke ma mua o ka hiki ke hana ʻia nā hunaola koko ʻulaʻula hou.

Lawe kēia mau hunaola koko ʻulaʻula i ka oxygen ma o ko kākou kino. No laila, ke emi nā hunaola koko ʻulaʻula ma muli o ka Pyruvate Kinase Deficiency, ʻaʻole lawa ka oxygen i nā hunaola ʻē aʻe o ke kino. ʻO ka hopena, hiki iā ʻoe ke loaʻa nā hōʻailona o ka anemia. He kūlana kēia e kū nei mai ka hānau ʻana mai a mau loa i kou ola. ʻO ia hoʻi, pono ʻoe e mālama ʻia e kahi hematologist i kou ola a pau. Eia naʻe, hiki ke ʻokoʻa kēia mau hōʻailona mai kēlā kanaka a kēia kanaka.

He aha nā hōʻailona o ka Pyruvate Kinase Deficiency?

ʻO nā hōʻailona maʻamau o ka anemia i kēia maʻi:

• Manaʻo luhi loa: ʻO ia hoʻi ke manaʻo luhi mau, ʻoiai ke hana nei i ka mea liʻiliʻi loa.
• Palpitations: Manaʻo e like me ke kuʻi ʻana o kou umauma ʻoiai ʻoe e kū mālie ana.
• Pōkole o ka hanu: Manaʻo i ka pōkole o ka hanu ʻoiai me ka hoʻoikaika iki ʻana.
• ʻIli keʻokeʻo: Ke nalowale ke koko o ke kino, loli ke kala o ka ʻili, ʻeā?
• Pōniuniu: He manaʻo o ka wili ʻana, i kekahi manawa me he mea lā e hāʻule ana ʻoe.
• ʻEha poʻo : ʻEha poʻo pinepine.

Ma waho aʻe o kēia mau hōʻailona anemia, hiki ke loaʻa nā hōʻailona ʻē aʻe ma muli o ka hōʻiliʻili ʻana o nā huahana ʻōpala mai nā hunaola koko ʻulaʻula i haki i loko o ke kino. E nānā kākou i ke ʻano o lākou:

• Jaundice: He melemele o ka ʻili a me ke keʻokeʻo o nā maka. Hoʻokumu ʻia kēia e ka hoʻonui ʻia ʻana o ka hana ʻana o ke kino i kahi mea i kapa ʻia ʻo bilirubin, i loaʻa mai nā hunaola koko ʻulaʻula i haki.
• ʻO ka spleen i hoʻonui ʻia: ʻO ka spleen kahi ʻōkana i loko o ko mākou kino e mālama i nā hunaola koko ʻulaʻula i haki. No laila, i ka wā e nui loa ai ka pōʻino o nā cell, hiki i ka spleen ke hoʻonui ʻia.
• Mimi ʻeleʻele: Mimi i ʻoi aku ka ʻeleʻele ma mua o ka maʻamau.

I ka makahiki hea e ʻike pinepine ʻia ai nā hōʻailona?

ʻOiai ʻo ka Pyruvate Kinase Deficiency (PK Deficiency) kahi kūlana i loaʻa i ka wā hānau, ʻo ka manawa e pono ai e ʻike ʻia nā hōʻailona e pili ana i ke koʻikoʻi o kou kūlana.

E noʻonoʻo, loaʻa i kekahi mau pēpē hānau hou nā hōʻailona koʻikoʻi e pono ai lākou i ka lāʻau lapaʻau koke e hoʻōla ai i ke ola. Hiki i nā pēpē ʻōpio ke uē nui, hōʻole e hānai, a hoʻōki i ka pāʻani. Hiki i nā keiki makua ke hoʻopiʻi no ka luhi i nā manawa a pau a nalowale ka hoihoi i ka holo a puni a me ka pāʻani. ʻAʻole paha e ʻike kekahi poʻe mākua he maʻi ko lākou a hiki i ka wā e lilo ai i mea hoʻoluhi nui—no ka laʻana, i ka wā hāpai, kahi maʻi koʻikoʻi, a i ʻole kahi ʻeha.

No ke aha i loaʻa ai kēia 'Pyruvate Kinase Deficiency'?

He maʻi hoʻoilina kēia i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna ma muli o kahi kīnā i loko o kahi gene i kapa ʻia ʻo `(PKLR)`. E noʻonoʻo iā ia e like me kā mākou mau genes e like me kahi puke e haʻi ana i kā mākou mau cell "hana i kēia, hana i kēlā". Ke haʻi aku nei kāu gene `(PKLR)` i nā cell koko ʻulaʻula pehea e hana ai i kahi enzyme i kapa ʻia ʻo `Pyruvate Kinase`. Kōkua kēia enzyme `Pyruvate Kinase` i nā cell koko ʻulaʻula e hana i ka `Adenosine Triphosphate` (ATP)`, he kumu ikehu.

No laila, i loko o ke kanaka me ka `Pyruvate Kinase Deficiency` (PK Deficiency), ma muli o kahi kīnā i loko o ka gene `(PKLR)`, ʻaʻole hiki i nā hunaola koko ʻulaʻula ke hana i ka enzyme `Pyruvate Kinase` lawa. No laila, ʻaʻole hiki i nā hunaola koko ʻulaʻula ke hana i ka ikehu `(ATP)` e pono ai lākou e ola. ʻO ka hopena, ua haki koke kēlā mau hunaola. A laila emi ka helu o nā hunaola koko ʻulaʻula i loko o ke kino. Ua kapa ʻia kēia he `Hemolytic Anemia` , ʻo ia hoʻi ka anemia i hoʻokumu ʻia e ka haki ʻana o nā hunaola koko ʻulaʻula.

Pehea e hoʻoili ʻia ai nā genes: `(Autosomal Recessive Inheritance)`

No ka loaʻa ʻana o ka `Pyruvate Kinase Deficiency` (PK Deficiency), pono ʻoe e hoʻoilina i ʻelua mau genes `PKLR` hemahema . Hoʻokahi mai kou makuahine a hoʻokahi mai kou makuakāne. ʻO kēia ka mea a mākou e kapa nei he `Autosomal Recessive Inheritance` i ka lāʻau lapaʻau. No ka hiki ʻana mai o kēia, pono i nā mākua ʻelua ke loaʻa i hoʻokahi gene `PKLR` maʻamau a me hoʻokahi gene `PKLR` hemahema. Eia naʻe, inā ʻaʻole lākou i loaʻa i ka hoʻāʻo genetic, ʻaʻole paha lākou e ʻike he loaʻa iā lākou kēia gene hemahema a i ʻole hiki iā lākou ke hoʻoili iā ia i kā lākou mau keiki.

No kēlā mau mākua ʻelua, aia hoʻokahi i loko o ʻehā (25%) ka manawa e hoʻoilina ai kā lāua keiki i nā genes `(PKLR)` kīnā ʻole a loaʻa iā ia kahi `Pyruvate Kinase Deficiency`.

ʻO wai ka mea i ʻoi aku ka pilikia no kēia maʻi?

ʻO ka hemahema o ka Pyruvate kinase (PK Deficiency) he maʻi hoʻoilina i hoʻoili ʻia mai ka makua a i ke keiki, a ʻoi aku ka maʻamau i kekahi mau hui lāhui. ʻIke pinepine ʻia ia i nā poʻe o ka ʻāina ʻEulopa ʻĀkau. He mea maʻamau nō hoʻi ia ma kekahi mau kaiāulu Amish ma Pennsylvania a me Ohio.

Aia kekahi ala e hōʻemi ai i ka pilikia?

ʻAʻole hiki iā mākou ke pale aku i nā maʻi hoʻoilina. Eia nō naʻe, hiki iā ʻoe ke hoʻāʻo i kou pilikia o ka loaʻa ʻana o kahi keiki me ka Pyruvate Kinase Deficiency. Inā he moʻolelo ʻohana kou a i ʻole kāu hoa no kēia maʻi, he manaʻo maikaʻi e kamaʻilio me kahi kākāʻōlelo hoʻoilina. Hiki iā lākou ke wehewehe i nā hoʻokolohua DNA i loaʻa a hiki ke kōkua iā ʻoe e hoʻomaopopo i nā hopena hiki i ka wā hāpai.

He aha nā pilikia e hiki ke hana ma muli o kēia ʻano?

ʻIke wale kekahi poʻe he Pyruvate Kinase Deficiency ko lākou ma hope o ka puka ʻana o nā pilikia. ʻO ia mau pilikia:

• Gallstones: Hiki ke hana i nā Gallstones i loko o ka gallbladder.
• Hao nui: Hiki ke hana ʻia ka hao nui ma muli o ka maʻi a i ʻole ke kahe koko pinepine ʻana.
• Nā ʻeha ʻaʻole e ho'ōla ʻia ma nā wāwae (`(Leg Ulcers)`).
• Ke koko kiʻekiʻe o ka puʻuwai: Hoʻonui ʻia ke kaomi i loko o nā kīʻaha koko e pili ana i nā māmā.
• Ka nāwaliwali o nā iwi: Hoʻonui kēia i ka pilikia o nā haki a me ka pilikia o ka hoʻomohala ʻana i nā maʻi e like me ka osteoporosis i ko mākou wā ʻelemakule.
• Nā pilikia i ka wā hāpai: nā mea e like me ka hemo ʻana o nā keiki, ka hānau mua ʻana, a me nā mea ʻē aʻe.

He manawa kaumaha nui ka hāpai ʻana no ke kino. Hiki i kēia ke alakaʻi i nā hōʻailona hou a i ʻole nā ​​hōʻailona ʻino o ka pyruvate kinase deficiency (PK Deficiency). Hiki iā ia ke hoʻopilikia i ka pēpē i hānau ʻole ʻia. Eia nō naʻe, he kakaikahi nā pilikia o ka hāpai ʻana. Inā hāpai ʻoe, e hana pū kāu kauka hānau keiki a me ke kauka wahine me kāu hematologist e mālama iā ʻoe a me kāu pēpē i ka palekana.

Pehea e ʻike ai nā kauka i kēia maʻi?

Inā loaʻa i kahi pēpē i loko o ka ʻōpū nā hōʻailona o ka Pyruvate Kinase Deficiency, hiki ke ʻike ʻia i kekahi manawa i ka wā o ka ultrasound scan ma mua o ka hānau ʻana. Inā kānalua ʻia kēia, hiki i nā kauka ke hoʻāʻo no ke kūlana. No ka laʻana, ʻo ka hōʻiliʻili ʻana o ka wai i loko o ke kino o ka fetus (Hydrops Fetalis) kekahi hōʻailona hōʻailona.

Inā loaʻa iā ʻoe a i ʻole kāu keiki nā hōʻailona o ka pyruvate kinase deficiency (PK Deficiency), e kauoha ke kauka i kekahi mau hoʻāʻo koko. E nānā kēia mau hoʻāʻo:

• Anemia: Nānā kēia hoʻāʻo koko e ʻike inā he anemia hemolytic kou. ʻOiai he nui nā kumu o ka anemia, kōkua pū kēia hoʻāʻo koko i ka kāpae ʻana i nā kumu ʻē aʻe.
• Inā paha he haʻahaʻa ka hana o ka enzyme `pyruvate kinase`: Hiki i nā hoʻokolohua biochemical ke ana i ka ikaika o kāu enzyme `pyruvate kinase`. I ka `pyruvate kinase deficiency`, haʻahaʻa kāna hana.
• Aia kekahi mutation i loko o ka gene `(PKLR)`?Hiki i nā hoʻokolohua molekala ke ʻike i nā hemahema i loko o ka gene PKLR e hoʻoulu ai i kēia maʻi.

Pehea e mālama ʻia ai ka Pyruvate Kinase Deficiency?

Ma muli o ke koʻikoʻi o kāu mau hōʻailona a me ka wā i ʻike ʻia ai ka maʻi, ʻo ka lāʻau lapaʻau kēia.

No nā keiki hānau hou a me nā pēpē i loko o ka ʻōpū

Pono paha nā ʻōpū a me nā pēpē hānau hou me ka Pyruvate Kinase Deficiency i ka lāʻau lapaʻau e hoʻōla ai i ke ola. Nā Laʻana:

• Hoʻoili ʻana i ka ʻōpū o ka pēpē i loko o ka ʻōpū: Pono paha ka lāʻau lapaʻau i kahi pēpē me ka pyruvate kinase deficiency (PK Deficiency) ma mua o ka hānau ʻana. Ma kēia kaʻina hana, hoʻokomo ʻia nā hunaola koko ʻulaʻula mai kahi mea hāʻawi i loko o ka pēpē.
• Phototherapy: Kōkua kēia i ka wāwahi ʻana i kahi huahana ʻōpala i kapa ʻia ʻo bilirubin e hōʻiliʻili ana i loko o ke kino o ke keiki hānau hou. Hoʻomaka ka jaundice ke hōʻiliʻili ka bilirubin.
• Hoʻololi Hoʻololi: Pono paha nā pēpē hānau hou me ka jaundice koʻikoʻi i kēia lāʻau lapaʻau. Maanei, ua pani ʻia ke koko o ka pēpē me ke koko mai kahi mea hāʻawi.

No nā pēpē, nā keiki a me nā mākua

Hiki i kēia mau lāʻau lapaʻau ke kāohi i nā hōʻailona anemia a pale i nā pilikia i hoʻokumu ʻia e ka pyruvate kinase deficiency (PK deficiency).

• Nā Hoʻoili Koko: Pono paha ʻoe i nā hoʻoili koko i kou ola a pau e pani i kāu helu koko ʻulaʻula haʻahaʻa. Eia nō naʻe, pono paha kekahi poʻe i nā hoʻoili koko maʻamau i ko lākou wā ʻelemakule, akā naʻe e nalowale paha kēia pono i ko lākou wā ʻelemakule.
• ʻO Mitapivat (Pyrukynd®): He lāʻau lapaʻau hou kēia i hoʻohana ʻia no ka mālama ʻana i ka Pyruvate Kinase Deficiency a me ka Hemolytic Anemia i nā pākeke. Ua ʻāpono ʻia e ka US Food and Drug Administration (FDA) i ka makahiki 2022.
• Nā Mea Hoʻohui Waikawa Folic: ʻO ka waikawa Folic kahi meaʻai e kōkua ai i ke kino e hana i nā hunaola koko ʻulaʻula. Inā ʻaʻole lawa ka waikawa folic mai nā meaʻai āu e ʻai ai, pono paha ʻoe e lawe i kahi mea hoʻohui.
• Lapaʻau Chelation Hao: Hiki i ka hao ke hōʻiliʻili i loko o ke kino, ma muli paha o ka maʻi ponoʻī a i ʻole ma muli o ke kahe koko pinepine ʻana. Hoʻopau kēia lāʻau lapaʻau i ka hao keu.
• Ka Wehe ʻana i ka Spleen (Splenectomy): ʻO kou spleen kahi e mālama ʻia ai nā hunaola koko ʻulaʻula i haki. Ke loaʻa iā ʻoe ka Pyruvate Kinase Deficiency, hiki ke lilo i mea nui loa. Inā hana ʻia kēia, pono paha i ke kauka ke wehe.
• Ka Wehe ʻana i ka ʻōpū gall (Cholecystectomy): Hiki i ka Pyruvate Kinase Deficiency ke hana i nā pōhaku gall. Inā pilikia lākou, hiki i kāu kauka ke ʻōlelo aku e wehe i kou gallbladder.

Ke noiʻi nei nā mea noiʻi i nā lāʻau lapaʻau hou, me:

• Hoʻoili Kelepona Kumu: Ma kēia kaʻina hana, loaʻa iā ʻoe nā kelepona kumu mai kahi mea hāʻawi. A laila ulu kēia mau kelepona i loko o nā kele koko ʻulaʻula olakino.
• Lapaʻau Gene: Pili kēia i ka hoʻololi ʻana i ka gene kīnā e hoʻoulu ai i ka Pyruvate Kinase Deficiency me kahi gene olakino.

Āhea ʻoe e ʻike ai i ke kauka?

Pono ʻoe e ʻike pinepine i kāu hematologist e nānā i kou pae koko ʻulaʻula. E nānā pū lākou i nā pilikia e like me ka hao nui.

E haʻi aku lākou iā ʻoe i ke ʻano o ka mālama ʻana āu e pono ai ma muli o kou kūlana. No laila, he mea nui loa e hahai i nā ʻōlelo a kāu kauka.

He aha kāu e manaʻo ai i ka wā e noho ai me kēia maʻi?

E hilinaʻi kou ʻike i kāu mau hōʻailona a me ka lāʻau lapaʻau. Hiki i nā pilikia o ka pyruvate kinase deficiency (PK Deficiency) ke hoʻopilikia i kou ʻike. Eia kekahi, hiki ke loli kou ʻike i ke ola. No ka laʻana, ʻo nā keiki i pono i ke kahe koko pinepine i ko lākou wā kamaliʻi, ʻaʻole paha lākou e pono hou iā lākou i ko lākou wā makua. ʻAʻole paha e loaʻa i kekahi poʻe mākua nā hōʻailona a hiki i ka loaʻa ʻana o kahi pilikia olakino koʻikoʻi.

ʻO kāu kauka ke kanaka kūpono loa e wehewehe pehea e hoʻopilikia ai ka Pyruvate Kinase Deficiency i kou olakino lōʻihi.

Inā loaʻa iā ʻoe ka pyruvate kinase deficiency (PK Deficiency), e nānā pono kāu kauka iā ʻoe. Pono ʻoe i nā hoʻokolohua maʻamau e hōʻoia i loaʻa iā ʻoe nā hunaola koko ʻulaʻula lawa. Pono paha ʻoe i nā hoʻoili koko e pale aku i ka anemia koʻikoʻi. A i ʻole, ʻaʻole paha ʻoe e pono i kekahi lāʻau lapaʻau. ʻAʻohe pane paʻa i kou ʻike me kēia maʻi. ʻO ka mea nui loa, ʻo ia ka loaʻa ʻana o ka maʻi a loaʻa ka mālama kūpono mai kahi loea. ʻO kou mau hunaola koko ʻulaʻula kou koko ola. ʻO ka lawa ʻana o lākou he mea nui ia no kou olakino.

ʻO ka mea hope loa, e hoʻomanaʻo i kēia.

He maʻi paʻakikī ka Pyruvate Kinase Deficiency a hiki ke ola. Akā, mai hopohopo. Me ka hōʻoia kūpono, ka lāʻau lapaʻau, a me ka ʻōlelo aʻoaʻo a ka poʻe loea, hiki iā ʻoe ke ola me kēia maʻi me ka holomua. Inā loaʻa iā ʻoe a i ʻole kekahi āu i ʻike ai kēia mau hōʻailona, ​​e ʻike koke i ke kauka. E hoʻomanaʻo, ʻo ka wikiwiki o kou hōʻoia ʻia ʻana, ʻoi aku ka maikaʻi o kou loaʻa ʻana o ka lāʻau lapaʻau a me ka hōʻemi ʻana i nā pilikia. ʻAʻole ʻoe hoʻokahi, a aia nā kauka a me nā mea lawelawe olakino e kōkua iā ʻoe ma kēia huakaʻi.

`ʻO ka hemahema o Pyruvate Kinase, nā hunaola koko ʻulaʻula, anemia, gene PKLR, enzyme, spleen, nā maʻi genetic