He 'pōʻai' anei kou mau hunaola koko ʻulaʻula? E kamaʻilio kākou e pili ana i ka spherocytosis hoʻoilina!

I kekahi manawa, hana ʻia nā mea i loko o ko kākou kino me ka ʻike ʻole ʻia. Ke luhi mau nei ʻoe a i ʻole kekahi o kou ʻohana? Malia paha ke melemele iki nei kou ʻili, a i ʻole he paʻakikī iki kou hanu ʻana? I kekahi manawa, he mau hōʻailona kēia o kahi maʻi i ʻoi aku ka maʻamau akā koʻikoʻi i kapa ʻia ʻo Hereditary Spherocytosis , a mākou e kamaʻilio nei i kēia lā. No laila e nānā kākou i ke ʻano o kēia?

He aha ka Spherocytosis Hoʻoilina?

I ka ʻōlelo maʻalahi, he maʻi koko hoʻoilina kēia. ʻO ka mea e hana ʻia, ʻo ia ka haki ʻana o ko mākou mau hunaola koko ʻulaʻula ma mua o ka maʻamau. Hoʻokumu kēia i kahi maʻi i kapa ʻia ʻo ka anemia hemolytic .

E nānā, aia nā hunaola koko ʻulaʻula i loko o ko kākou kino. ʻO kēia nā hunaola e lawe ana i ka oxygen ma ke kino holoʻokoʻa. ʻO ka maʻamau, ua like kēia mau hunaola koko ʻulaʻula me nā diski, kūlou i loko ma nā ʻaoʻao ʻelua, a he palupalu lākou. Ua like lākou me nā 'donuts' liʻiliʻi, akā ʻaʻohe lua ma waena. Ma muli o kēia palupalu, hiki iā lākou ke ʻomi ma waena o nā kīʻaha koko liʻiliʻi loa.

Akā i loko o kēia kūlana spherocytosis hoʻoilina, ʻo ka mea e hana ʻia, ʻo ia ka loli ʻana o ke ʻano o kēia mau hunaola koko ʻulaʻula. Nalowale ko lākou ʻano disc a lilo i mau pōpō liʻiliʻi, a i ʻole poepoe . Kāhea mākou i kēia mau hunaola poepoe he spherocytes . ʻO ka pilikia, ʻaʻole palupalu kēia mau spherocytes. He ʻano paʻakikī iki lākou, no laila ke hele lākou ma waena o nā kīʻaha koko, ʻoiai ke hele lākou ma waena o ka spleen, paʻa lākou a haki maʻalahi. Hoʻoneʻe ʻia lākou mai ke kahe koko me ka wikiwiki ma mua o kahi hunaola koko ʻulaʻula maʻamau.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia kūlana?

ʻIke pinepine ʻia kēia maʻi i nā poʻe o ʻEulopa ʻĀkau a i ʻole ʻAmelika ʻĀkau. Eia nō naʻe, hiki iā ia ke hoʻopilikia i kekahi ma ka honua. Wahi a ka ʻikepili, ua manaʻo nā kauka ma waena o 1 i loko o 2,000 a me 5,000 mau kānaka o ka heluna kanaka o ka honua e loaʻa paha kēia maʻi.

ʻO ka maʻamau, ʻike nā kauka i kēia maʻi i ka wā kamaliʻi a i ʻole ka wā kamaliʻi . Hoʻomaka kekahi mau keiki e hōʻike i nā hōʻailona ma waena o nā makahiki 3 a me 8. Akā, he mea kupanaha, ʻaʻole hōʻike kekahi poʻe i kekahi mau hōʻailona a hiki i ko lākou 30 a 40 paha. I kekahi manawa, ke hōʻike kahi pēpē hānau hou i nā hōʻailona o ka anemia koʻikoʻi i loko o hoʻokahi pule o ka hānau ʻana, kānalua nā kauka i kēia maʻi a hana i nā hoʻāʻo koko.

Pehea ka hopena o ka spherocytosis hoʻoilina i koʻu kino?

Ma waho aʻe o ka anemia i ʻōlelo ʻia ma mua (anemia hemolytic), nui ka poʻe me kēia maʻi e loaʻa i kekahi mau kūlana ʻē aʻe:

• Splenomegaly: Ua like ko kākou spleen me kahi kānana e hoʻomaʻemaʻe i ke koko. Hoʻopau ia i nā hunaola koko ʻulaʻula kahiko a hōʻino ʻia. No laila, ua paʻa kēlā mau 'spherocytes' poepoe i ka wā e hoʻāʻo ana e hele ma waena o nā aa liʻiliʻi o ka spleen. Ke piʻi ka nui o nā hunaola i paʻa, hoʻomaka ka spleen e pehu.
• ʻĀʻī:ʻO kēia ka manawa e melemele ai kou ʻili, nā keʻokeʻo o kou mau maka (sclera), a me nā membrane mucous. Ke wāwahi koke nā hunaola koko ʻulaʻula, hōʻiliʻili kahi mea melemele i kapa ʻia ʻo bilirubin i loko o kou koko. Hiki mai ka jaundice ke piʻi ka pae o kēia bilirubin.
• Nā pōhaku gallstones: Inā noho kiʻekiʻe nā pae bilirubin, hiki ke hana ʻia nā pōhaku gallstones.

He aha nā hōʻailona o ka anemia hemolytic i hoʻokumu ʻia e ka haki ʻana o nā hunaola koko?

Ma waho aʻe o ka jaundice a me ka pehu ʻana o ka spleen, aia kekahi mau hōʻailona ʻē aʻe:

• Paʻakikī ka hanu ʻana (dyspnea): Hana ʻia kēia ke lawa ʻole nā ​​hunaola koko ʻulaʻula e lawe i ka oxygen e pono ai ke kino.
• Luhi: He manaʻo o ka luhi loa e hiki ʻole ai ke hana i nā hana o kēlā me kēia lā.
• Puʻuwai wikiwiki (tachycardia): Hoʻomaka ka puʻuwai e kuʻi wikiwiki ma mua o ka mea e pono ai. Ke hana ʻia kēia, ʻaʻole lawa ka manawa o ka puʻuwai e hoʻopiha ai me ke koko, kahi e hōʻemi ai i ka nui o ka oxygen e pono ai ke kino.
• Hypotension: Ke koko haʻahaʻa ma mua o ka mea i manaʻo ʻia.

Ke ʻike nei anei nā kānaka a pau i kēia mau kūlana a pau?

ʻAʻole, ʻaʻole. Hoʻokaʻawale nā ​​​​kauka i kēia maʻi, ʻo Hereditary Spherocytosis, i ʻekolu mau māhele (i kekahi manawa aia kahi māhele ʻehā, waena/ koʻikoʻi ), ma muli o ke ʻano o nā hōʻailona.

• ʻAʻole nui: Aia kēia māhele i 20% a 30% o nā maʻi. Loaʻa iā lākou ka anemia hemolytic. Eia nō naʻe, ʻaʻole ʻike ʻia nā hōʻailona ʻē aʻe a hiki i ko lākou mau makahiki he 30 a 40 paha.
• Kaulike: Ma waena o 60% a me 75% o nā maʻi e hāʻule ana i loko o kēia māhele. Hoʻokomo pū kēia me nā pēpē a me nā keiki liʻiliʻi. Loaʻa paha iā lākou ka anemia a me ka jaundice ʻoluʻolu a kaulike paha.
• Koʻikoʻi: ʻO kēia ke ʻano koʻikoʻi loa. Ma kahi o 5% o nā maʻi e hāʻule ana i loko o kēia māhele. Hōʻike nā pēpē hānau hou i nā hōʻailona o ka anemia koʻikoʻi i loko o hoʻokahi pule o ka hānau ʻana.

He aha ke kumu o kēia?

E like me ka inoa e hōʻike nei, he ʻano hoʻoilina kēia, ʻo ia hoʻi, ua hoʻoili ʻia mai nā mākua a i nā keiki . Loaʻa iā mākou āpau nā kope o nā genes mai ko mākou mau mākua. Inā he mau mutations , a i ʻole nā ​​​​loli, i loko o kēia mau genes, hiki ke hoʻoili ʻia i kā mākou mau keiki. I loko o ka hereditary spherocytosis, ua hoʻokumu ʻia ke ʻano e nā mutations i loko o ʻelima mau genes . Kuhi kēia mau genes no nā protein e hana ana i ka pūpū waho o nā ʻulaʻula koko. (ʻO ke koʻikoʻi o ka maʻi e pili ana i ke ʻano o ka mutation.)

Ma kahi o 75% o ka poʻe me kēia maʻi e hoʻoilina iā ia ma ke ʻano autosomal dominant . ʻO ke ʻano kēia, hoʻokahi wale nō gene i hoʻololi ʻia mai kekahi makua e hoʻoulu ai i ka maʻi. ʻO kahi keiki i hānau ʻia i kahi makua me ka gene i hoʻololi ʻia he 50% ka manawa e hoʻoilina ai i kēlā gene.

Hoʻoilina kekahi poʻe inā hoʻoilina lākou i hoʻokahi kope o ka gene mutated mai nā mākua ʻelua. Ua kapa ʻia kēia he ʻano autosomal recessive . I kēia hihia, he mau mea lawe wale nā ​​​​mākua a ʻaʻole hōʻike pinepine i nā hōʻailona.

Ke loaʻa nā keiki a ʻelua mea lawe i ka maʻi, he 25% ka manawa e loaʻa ai i kēlā me kēia keiki ka maʻi, he 50% ka manawa e lilo ai i mea lawe, a he 25% ka manawa e ʻole ai e hoʻopilikia ʻia.

He aha ka mea e hana ʻia ke hoʻololi ʻia kēia mau genes?

Loaʻa i ko kākou mau pūnaewele āpau kahi membrane cell . ʻO kēia ka mea e hoʻokaʻawale i nā mea o loko o ke kelepona mai ke kaiapuni waho a pale iā ia. Hana ʻia ka membrane o nā cell koko ʻulaʻula me kahi membrane lahilahi ma waho a me kahi cytoskeleton ma loko, i hana ʻia me nā protein e hoʻopili pū iā lākou.

Pono nā hunaola koko ʻulaʻula e kūlou, wili, a hoʻololi i ke ʻano. Pēlā lākou e hiki ai ke ʻomi ma waena o nā kīʻaha koko liʻiliʻi a hele ma waena o ka spleen. E noʻonoʻo e like me kā mākou e pelu ana i kahi pālule palupalu i loko o kahi ʻeke piha loa. Hiki i ka membrane hunaola koko ʻulaʻula ke hoʻololi i ke ʻano i ka wā e pono ai, me ka mālama ʻana i kona ʻano disc kūikawā.

I loko o ka spherocytosis hoʻoilina, hoʻopilikia nā hoʻololi genetic i nā protein i loko o ka membrane cell koko ʻulaʻula. Hoʻopilikia kēia i ka pilina ma waena o ka cytoskeleton a me ka membrane waho. A laila ʻaʻole hiki i ka cytoskeleton ke hāʻawi i ke kākoʻo i ka membrane waho. ʻO ka hopena, loli nā cell koko ʻulaʻula mai ko lākou ʻano disc palupalu e lilo i "spherocytes" paʻa a poepoe.

Pehea e ʻike ai nā kauka i kēia maʻi?

Hoʻomaopopo nā kauka i kēia maʻi ma ka nānā ʻana i kāu mau hōʻailona, ​​​​e nīnau e pili ana i kou mōʻaukala olakino a me kou ʻohana, a me ka hana ʻana i kekahi mau hoʻokolohua. Hiki i kēia mau hoʻokolohua ke komo pū me:

• Helu koko piha (CBC): Hāʻawi kēia i ka ʻike e pili ana i kou koko a me ke olakino holoʻokoʻa.
• ʻO ka palaki koko peripheral: Nānā kēia i ka nui a me ke ʻano o nā hunaola koko. Hiki iā ia ke nānā i ke alo o nā spherocytes.
• Helu Reticulocyte: Nānā kēia inā e hana ana kou iwi iwi i nā hunaola koko ʻulaʻula olakino.
• Hoʻāʻo antiglobulin pololei (Direct antiglobulin - Coombs test): Nānā kēia no ka anemia hemolytic autoimmune.
• Pae Bilirubin: He hoʻāʻo koko e nānā ai i nā pae kiʻekiʻe o ka bilirubin i loko o ke koko.
• ʻO ka palupalu osmotic o nā cell koko ʻulaʻula: Ke ana kēia i ka maʻalahi o ka haki ʻana o nā cell koko ʻulaʻula.
• ʻO ka electrophoresis membrane plasma: He ʻano hana kūikawā kēia e hoʻohana ana i kahi kahua uila e hoʻokaʻawale i ka DNA, RNA, a i ʻole nā ​​​​protein mai kahi gel a wai paha. Nānā ia i ka protein ma ka membrane cell koko ʻulaʻula i loaʻa ka mutation.

Pehea e mālama ʻia ai kēia?

ʻOkoʻa nā koho lapaʻau ma muli o nā hōʻailona. No ka laʻana, hiki ke hāʻawi ʻia i kahi keiki hānau hou me ka anemia koʻikoʻi i nā hoʻoili koko a/a i ʻole nā ​​​​​​mea hoʻoulu erythropoietin (ESA) i ka wā e ʻike ʻia ai ke ʻano. ʻO nā ESA he mau lāʻau lapaʻau e hoʻoulu ai i ka hana ʻana o nā cell koko ʻulaʻula.

ʻO nā koho lapaʻau ʻē aʻe:

• Phototherapy: He lāʻau māmā i hāʻawi ʻia e mālama i ka jaundice i nā pēpē hānau hou.
• Nā hoʻoili koko: Hāʻawi ʻia ke koko ma ke ʻano he lāʻau lapaʻau no ka anemia.
• Splenectomy: Hoʻopau ʻia ka spleen ma ke ʻano he lāʻau lapaʻau no nā kūlana koʻikoʻi.
• Cholecystectomy: Hana ʻia kēia ʻoki ma ke ʻano he lāʻau lapaʻau no nā gallstones.
• Lapaʻau chelation hao: Hiki i nā hoʻoili koko pinepine ke hoʻonui i ka hao keu i loko o ke kino (hemochromatosis) . Hoʻohana ʻia kēia lāʻau lapaʻau e wehe i kēia hao keu.

Hiki ke pale ʻia ka spherocytosis hoʻoilina?

Inā loaʻa i kekahi o kou ʻohana kēia maʻi, ʻo ia hoʻi, inā he moʻolelo hoʻoilina, he paʻakikī ke pale aku. No ka mea, he mea ia e hele mai ana mai nā genes. Akā, ʻo ka mea nui e hoʻomanaʻo ai, ʻoiai inā loaʻa i kekahi o kou ʻohana kēia maʻi, ʻaʻole ia he manaʻo e loaʻa maoli iā ʻoe a i ʻole kāu mau keiki kēia maʻi.

Eia kekahi laʻana, inā hoʻoilina ʻoe i kahi gene i hoʻololi ʻia mai kekahi o kou mau mākua, he 50% kou manawa e loaʻa ai ka maʻi. Inā hoʻoilina ʻoe i ka gene i hoʻololi ʻia mai nā mākua ʻelua, he 25% kou manawa e loaʻa ai ka maʻi. Eia kekahi, he 50% ka manawa e lilo ʻoe i mea lawe i ka maʻi a ʻaʻole e hōʻike i kekahi mau hōʻailona.

Inā he mau hopohopo a hopohopo paha kāu e pili ana i kēia, hiki iā ʻoe ke kamaʻilio me kāu kauka a i ʻole ke kauka o kāu keiki e pili ana i ka hoʻāʻo ʻia no ka spherocytosis hereditary. E kōkua nā hopena iā ʻoe e ʻike inā ua hoʻoilina ʻoe a i ʻole kāu keiki i ka mutation genetic. A laila hiki iā ʻoe ke loaʻa kahi manaʻo o ka mea e manaʻo ai.

E wehewehe aku kāu kauka iā ʻoe i ke ʻano o nā hopena hoʻāʻo, inā he akahai, kaulike, a koʻikoʻi paha ka maʻi, he aha nā kūlana e ulu aʻe i ka wā e hiki mai ana, a he aha kā lākou mau hōʻailona mua.

He aha kaʻu e manaʻo ai inā loaʻa iaʻu/kaʻu keiki kēia maʻi?

He maikaʻi ka prognosis o ka hapa nui o ka poʻe me ka spherocytosis hoʻoilina. Eia naʻe, ʻaʻole like nā kānaka a pau. Pili ka prognosis o kāu a i ʻole kāu keiki i nā mea e like me ke koʻikoʻi o ka maʻi, inā he mau pilikia olakino ʻē aʻe kāu, a me kou olakino holoʻokoʻa.

Loaʻa i kaʻu keiki ka spherocytosis hoʻoilina. Pehea e hiki ai iaʻu ke mālama iā ia?

Nā kipa hahai mau no nā keiki me kēia maʻiʻO kēia ke nānā ʻana i ko lākou olakino holoʻokoʻa a e nānā i nā hōʻailona hou, e like me ka anemia a i ʻole nā ​​​​pōhaku gall. Inā pono kāu keiki i nā hoʻoili koko pinepine, hiki i nā kauka ke ʻōlelo aku i ka lāʻau pale ʻana i ka maʻi hepatitis B. Hiki iā lākou ke aʻo aku iā ʻoe i nā hana e hiki ai iā ʻoe ke hana e pale aku i kāu keiki mai nā maʻi viral, e like me ka parvovirus B19 , hiki ke hoʻoulu i nā pilikia olakino koʻikoʻi a koke.

ʻO ka hereditary spherocytosis kahi maʻi koko hoʻoilina kakaikahi e pono ai ka mālama olakino no ke ola holoʻokoʻa . Hiki i nā kauka ke mālama i nā kūlana olakino koʻikoʻi i kekahi manawa i hoʻokumu ʻia e ka maʻi. Eia nō naʻe, ʻaʻohe lāʻau lapaʻau no kēia maʻi koko.

ʻO ka mea hope loa, pono wau e ʻōlelo... (Leka Lawe-Home)

ʻAʻole maʻalahi ka noho ʻana me kahi maʻi mau, a i ʻole ka mālama ʻana i kahi mea me ia, i nā manawa a pau. A hiki ke paʻakikī loa ke noho ʻoe me kahi maʻi i ʻike ʻole ʻia a lohe ʻole ʻia paha e ka poʻe he nui. Inā loaʻa iā ʻoe a i ʻole kāu keiki ka spherocytosis hereditary, hiki iā ʻoe ke manaʻo ua kaumaha ʻoe, mehameha, a ʻaʻohe mea e huli ai no ke kōkua.

Mai hopohopo. E kamaʻilio me kāu kauka. E hana lākou i nā mea āpau e hiki ai iā lākou ke kōkua iā ʻoe a me kāu pēpē. E hauʻoli lākou e pane i kāu mau nīnau. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi i kēia huakaʻi. Hiki iā ʻoe ke loaʻa ke kākoʻo a me ka ʻike āu e pono ai.

Manaʻolana wau he mea pono kēia ʻike iā ʻoe. E ola kino!

ʻO ka spherocytosis hoʻoilina, nā hunaola koko ʻulaʻula, anemia, spleen, nā maʻi hoʻoilina, nā genes, nā maʻi koko, jaundice, nā pōhaku gall