Loaʻa i kāu keiki liʻiliʻi kēia mau hōʻailona? E makaʻala kākou i ka Pearson Syndrome

Ke maʻi mau nei kāu keiki liʻiliʻi? Me he mea lā ua palaualelo ʻo ia? Loaʻa koke iā ia nā palapū i kekahi manawa? ʻOiai paha he mea maʻamau kēia mau mea, i kekahi manawa aia paha ke kumu koʻikoʻi ma hope o kēia a mākou i ʻike ʻole ai. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi lapaʻau kakaʻikahi, akā koʻikoʻi loa. ʻO ia ka maʻi i kapa ʻia ʻo Pearson Syndrome.

He aha ka Pearson Syndrome?

I ka ʻōlelo maʻalahi, he maʻi mitochondrial koʻikoʻi a laha ʻole ka Pearson Syndrome. I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia mau mitochondria. E noʻonoʻo ʻoe ua like kēlā me kēia cell i loko o ko mākou kino me kahi hale hana liʻiliʻi. Pono kēia mau hale hana i ka ikehu e hana ai. ʻO nā ʻāpana e hana i kēlā ikehu, e like me nā hale hana mana liʻiliʻi, ua kapa ʻia ʻo mitochondria. ʻO kēia mau mitochondria e hoʻololi i ka meaʻai a mākou e ʻai ai i ka ikehu a hāʻawi i ka ikehu e pono ai no kēlā me kēia ʻōkana a me ka ʻōnaehana i loko o ko mākou kino, e like me ke akepaʻa, ka puʻuwai, a me ka lolo, e hana.

I loko o ke keiki me ka Pearson Syndrome, aia kekahi mau loli, a i ʻole nā ​​mutations, i loko o ka mea genetic i loko o kēia mau mitochondria, ʻo ia hoʻi, ka mitochondrial DNA. Pale kēia i nā cell mai ka hana pono ʻana i ka ikehu. Hoʻopilikia nui kēia i nā ʻōpū koʻikoʻi o ke keiki e like me ka iwi iwi, ka pancreas, a me ke akepaʻa.

ʻIke pinepine ʻia kēia maʻi i ka wā kamaliʻi. Hiki iā ia ke hana i nā pilikia like ʻole i ke koko o ke keiki. Eia kekahi laʻana:

• ʻO ka emi ʻana o nā hunaola koko ʻulaʻula, ʻo ia hoʻi , anemia .
• ʻO ka emi ʻana o nā keʻokeʻo koko, ʻo ia hoʻi , neutropenia .
• ʻO ka emi ʻana o nā platelets (nā pūnaewele e kōkua i ke kāpili koko), i ʻike ʻia ʻo thrombocytopenia .

Ua kapa ʻia kēia maʻi ʻo Pearson bone marrow pancreatic syndrome.

He aha kēia mau hōʻailona?

Hiki i ke keiki me ka Pearson Syndrome ke hōʻike i nā ʻano hōʻailona like ʻole. ʻAʻole e loaʻa i nā keiki āpau nā hōʻailona āpau. Eia nō naʻe, aia kekahi mau hōʻailona maʻamau.

Nā hōʻailona mua i ʻike ʻia

• ʻEha maʻalahi: ʻOiai kahi puʻupuʻu liʻiliʻi hiki ke hana i kahi ʻeha nui a ʻeha paha.
• Ka luhi a me ka nāwaliwali mau: Hiki i ke keiki ke hiamoe i nā manawa a pau, me he mea lā ʻaʻohe ona ikaika e pāʻani ai.
• Ka maʻi kahe pinepine (diarrhea): He mau lā ka lōʻihi o ka maʻi kahe a he paʻakikī ke hoʻōki.
• Nā maʻi pinepine: ʻO ka maʻi ʻana mai nā mea liʻiliʻi loa, loaʻa pinepine ke kuni a me ke anu.
• Ka holomua ʻole o ka ulu ʻana: ʻAʻole e ulu lōʻihi a i ʻole e piʻi wikiwiki ke kaumaha e like me nā keiki ʻē aʻe o ka makahiki like. Ua like ia me ka piʻi ʻole o ke kaumaha ʻoiai ke ʻai nei.
• ʻIli keʻokeʻo: Ma muli o ka nele o ke koko i loko o ke kino, loli ke kala o ka ʻili a lilo i keʻokeʻo.
• Nāwaliwali o nā ʻiʻo: Manaʻo nā lālā i ka nāwaliwali a me ka palupalu.
• Luaʻi: ​​Luaʻi pinepine, ʻaʻole hiki ke hoʻomau i ka mea āu e ʻai ai.
• Melemele o ka ʻili a me nā keʻokeʻo o nā maka (jaundice): Hiki ke ʻike ʻia kēia hōʻailona ke hoʻopilikia ʻia ka hana o ke akepaʻa.

Nā pilikia ʻē aʻe e kū mai ana i ka hala ʻana o ka manawa

I kou noho ʻana me kēia maʻi, hiki ke kū mai nā pilikia hou aʻe i ka hala ʻana o ka manawa. ʻO kekahi o lākou:

• Maʻi diabetes: Hiki ke ulu ka maʻi diabetes ma muli o ka hōʻino ʻia o ka pancreas.
• Poho lohe: Hiki ke loli mālie ka lohe.
• Kearns-Sayre syndrome: He maʻi mitochondrial nō hoʻi kēia. Hoʻopilikia ia i ka ʻōnaehana nerve a me ka puʻuwai.
• Nā maʻi neʻe a i ʻole nā ​​​​​​hōʻeha: Hiki i kēia ke komo pū me ka haʻalulu a me ka huki ʻole ʻana o nā lālā.
• Nā pilikia ʻike: Hiki ke loaʻa nā kūlana e like me ke kuʻe ʻana o nā lihilihi maka, retinitis pigmentosa, a me nā cataracts.

No ke aha e kū mai ai ka Pearson Syndrome?

Ua ʻōlelo mua mākou ua hana ʻia ka Pearson Syndrome e nā hemahema i loko o ka mitochondrial DNA (mtDNA) . E hoʻomanaʻo, ʻo ka mitochondria nā ʻāpana e hana ana i ka ikehu o aneane kēlā me kēia cell i loko o ko mākou kino. No laila, i ka wā he hemahema i loko o kēia mau mitochondria, ʻaʻole loaʻa i nā cell ka ikehu e pono ai. A laila ua hōʻino ʻia kēlā mau cell a make paha i ka wā mua.

E noʻonoʻo i kēia ʻano: Ua like nā Mitochondria me ka ʻenekini o ke kaʻa. Inā he pilikia me ka ʻenekini, ʻaʻole e holo ke kaʻa. Pēlā nō ka mea e hana ʻia me nā cell.

ʻAʻole maopopo loa i nā kānaka ʻepekema ke kumu o kēia mau hemahema mitochondrial DNA (mtDNA), a pehea ke kumu o kēia mau hemahema i kēia mau hōʻailona.

He mea kēia i loaʻa mai nā hanauna mai?

ʻO ka hapa nui o ka manawa, loaʻa ka Pearson Syndrome me ke kumu ʻole. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi hoʻololi genetic maʻamau. Eia naʻe, he mea kakaikahi loa , hiki ke hoʻoilina ʻia, ʻo ia hoʻi hiki ke hoʻoili ʻia mai kekahi makua a i kekahi. Akā, he mea kakaikahi loa ia mau hihia, a ʻaʻole i maopopo loa.

Pehea e ʻike ai nā kauka i kēia?

Inā kānalua kāu kauka ua loaʻa i kāu keiki ka Pearson Syndrome, e kauoha ʻo ia i kekahi mau hoʻokolohua. ʻO kekahi o kēia mau mea:

• Nā hoʻāʻo koko: E nānā i ka helu o nā hunaola koko ʻulaʻula, nā hunaola koko keʻokeʻo, a me nā platelet i loko o ke koko. E nānā pū i ka hana o ke akepaʻa a me nā puʻupaʻa.
• ʻO ka biopsy iwi:ʻO kēia ke komo ʻana i ka lawe ʻana i kahi liʻiliʻi o ka iwi mai ka ʻūhā a i ʻole kekahi wahi kūpono ma lalo o kahi anesthetic māmā a nānā iā ia ma lalo o kahi microscope. Hiki i kēia ke ʻike i nā ʻano ʻē i loko o nā hunaola koko, e like me nā ʻeke piha i ka wai i loko o nā hunaola a i ʻole nā ​​waihona hao i loko o nā hunaola koko ʻulaʻula.
• Hoʻāʻo ʻana i ka ʻōpala: Kōkua kēia i ka loaʻa ʻana o kahi manaʻo o ka hana o ka pancreas.
• ʻIke mimi/hoʻāʻo mimi: Nānā i ka hana o nā puʻupaʻa a me nā pilikia ʻē aʻe.

ʻO nā hopena o kēia mau hoʻokolohua, ʻoiai ka biopsy iwi momona, e nānā pono ʻia e kahi pathologist e hōʻoia i ka hōʻailona.

He aha nā lāʻau lapaʻau no ka Pearson Syndrome?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Pearson Syndrome. ʻO nā lāʻau lapaʻau o kēia manawa ke kuhikuhi nei i ka hōʻemi ʻana i nā hōʻailona a me ka hoʻoluʻolu ʻana i ke keiki e like me ka hiki. ʻO kēia mau mea:

• Nā hoʻoili koko: Hāʻawi ʻia ke koko ma ke ʻano he lāʻau no nā kūlana e like me ka anemia.
• Ka hoʻōla kino a me ka hoʻōla hana: He mea nui kēia no ka hoʻoikaika ʻana i nā ʻiʻo o ke keiki a kōkua iā lākou e hana i nā hana o kēlā me kēia lā.
• Hoʻoili pūnaewele kumu: Hiki ke holomua kēia lāʻau lapaʻau no kekahi mau keiki, akā he lāʻau paʻakikī loa ia.
• Nā Mea Hoʻohui: ʻO nā mea hoʻohui e like me ka coenzyme Q10, L-carnitine, a me nā ʻano huaora like ʻole e kōkua i nā cell e hana i ka ikehu.
• Ka mālama ʻana i nā maʻi: Ma muli o ka pinepine ʻana o nā maʻi, hāʻawi ʻia nā antibiotics no nā maʻi bacteria a me nā antivirals no nā maʻi viral.

Pono e nānā ʻia nā keiki e ola ana ma hope o ka wā kamaliʻi e nā loea like ʻole e pili ana i ko lākou ake, nā puʻupaʻa, ka puʻuwai, a me ka pancreas, no ka mea, hiki ke hoʻopilikia ʻia kēia mau ʻōpū i ka hala ʻana o ka manawa.

ʻEhia ka lōʻihi e hiki ai i ka poʻe me kēia maʻi ke ola?

He mea kaumaha kēia e ʻōlelo ai. ʻO ka hapa nui o nā keiki me ka Pearson Syndrome, ma kahi o ka hapalua, e make i ka wā kamaliʻi a i ʻole ka wā kamaliʻi. He kakaikahi wale nō e ola a hiki i ka wā makua. Hiki i ka maʻi ke alakaʻi i ka lactic acidosis koʻikoʻi (ka hōʻiliʻili ʻana o ka lactic acid i loko o ke koko) a me ka hāʻule ʻana o nā ʻōpū.

Ua ʻike au e kaumaha loa ʻoe, e makaʻu, a e huhū hoʻi ke lohe ʻoe i kēia. He kūlana paʻakikī maoli kēia e hoʻomanawanui.

Pehea ʻoe e hana ai me ia kūlana paʻakikī?

Ke ʻike ʻoe ua loaʻa i kāu keiki ka Pearson Syndrome, hiki iā ia ke lilo i mea hoʻohoka a me ka ʻeha hiki ʻole ke hoʻomanawanui no ka ʻohana holoʻokoʻa. He mea maʻamau wale nō ia.

• ʻAʻole ʻoe hoʻokahi: ʻO ka mea mua, e hoʻomanaʻo ʻaʻole ʻoe e hele hoʻokahi nei i kēia. Ua hoʻopuni ʻia ʻoe e nā kauka, nā kahu maʻi, ka ʻohana, a me nā hoaaloha e hiki ke kōkua iā ʻoe a hoʻomaopopo iā ʻoe.
• Nā hui kākoʻo: Aia nā hui kākoʻo i hana ʻia e nā mākua o nā keiki me nā maʻi laha ʻole. ʻO ke komo ʻana i kekahi e hiki ke kōkua iā ʻoe e emi iho ka noho mehameha. Ke kaʻana like nā poʻe ʻē aʻe i kā lākou mau ʻike, hiki iā ʻoe ke loaʻa i kahi hōʻoluʻolu a me nā manaʻo.
• E aʻo, akā...: ʻAʻole ia kou kuleana e aʻo aku i nā poʻe ʻē aʻe e pili ana i ka mitochondria a me ka Pearson Syndrome. Nui nā wahi e loaʻa ai ka ʻike e pili ana i ia mea.
• E noi i ke kōkua: Makemake paha ka poʻe a puni ʻoe e kōkua iā ʻoe, akā ʻaʻole paha lākou i ʻike pehea. E maopopo i kāu mea e pono ai. Malia paha makemake ʻoe i kahi manawa hoʻokahi me kāu keiki, a i ʻole makemake ʻoe i kahi manawa nou iho. Mai hilahila e noi i ke kōkua, e like me ka hele ʻana i ka hale kūʻai, ka hana ʻana i kekahi mau hana hale, a i ʻole ka mālama keiki.
• Ke Hana ʻana me nā Manaʻo: Hiki ke paʻakikī ke hoʻomanawanui i nā manaʻo e hele mai me ka ʻike ʻana he maʻi hoʻoweliweli ko kāu keiki. ʻOiai he mea kakaikahi kēia maʻi, hiki iā ʻoe ke manaʻo mehameha hou aku. I ka wā mua, ʻo ka hele ʻana i nā hui kākoʻo e like me kēia a me ka ʻimi ʻana i ka ʻike e like me ka mea pono ʻole. He mea maʻamau ka makemake e hoʻolilo i ka manawa me kāu keiki i ka hiki. Eia nō naʻe, e hoʻomanaʻo he mau wahi e hiki ai iā ʻoe ke loaʻa i kēlā ʻano kōkua. He waiwai nui kēlā ʻano kākoʻo i ka kaʻana like ʻana i kou kaumaha, ka ʻeha, a me ka loaʻa ʻana o ka ikaika e hoʻomanawanui ai.

E hoʻomanaʻo mau "ʻaʻole ʻoe hoʻokahi." Hiki iā ʻoe ke loaʻa ka ikaika a me ke alakaʻi āu e pono ai ma o nā kauka, ʻohana, nā hoaaloha, a me nā hui kākoʻo ʻē aʻe.

ʻO ka mea hope loa, e hoʻomanaʻo i kēia.

He maʻi laha ʻole akā koʻikoʻi loa ka Pearson Syndrome. Hoʻokumu ʻia ia e kahi pilikia me ka mitochondria, nā hale mana liʻiliʻi e hoʻoikaika i kā mākou mau cell. Hiki i kēia ke hoʻopilikia i nā ʻōpū koʻikoʻi e like me ka iwi iwi a me ka pancreas o ke keiki.

• E makaʻala i nā hōʻailona: Inā loaʻa i kāu keiki nā hōʻailona e like me ka luhi mau, ka maeʻele, ka maʻalahi o ka ʻeha, a i ʻole ka maʻi pinepine, e ʻimi i ke kōkua lapaʻau.
• He mea nui ka ʻike pololei: Pono nā hoʻokolohua kūikawā e ʻike ai i kahi maʻi laha ʻole e like me kēia.
• ʻO ke kumu o ka lāʻau lapaʻau ʻana, ʻo ia ke kāohi ʻana i nā hōʻailona: ʻOiai ʻaʻohe lāʻau lapaʻau piha, aia nā lāʻau lapaʻau e hōʻemi i nā hōʻailona a hāʻawi i ka hōʻoluʻolu i ke keiki.
• He mea nui ke kākoʻo noʻonoʻo: He mea nui loa ke kākoʻo noʻonoʻo no kahi ʻohana e kū nei i ia pilikia. E hōʻike iā lākou ʻaʻole lākou mehameha.

Manaʻolana wau ua kōkua kēia ʻike iā ʻoe e hoʻomaopopo i kēia maʻi laha ʻole. Inā he mau nīnau hou aku kāu e pili ana i kēia, mai kānalua e kamaʻilio me kāu kauka.

ʻO ka maʻi Pearson, mitochondria, iwi ʻiʻo, pancreas, anemia, nā maʻi genetic, nā maʻi pediatric