Loaʻa i kāu keiki liʻiliʻi kēia mau hōʻailona? E kamaʻilio kākou e pili ana i ka Wiskott-Aldrich Syndrome.

Ke maʻi mau nei kāu keiki liʻiliʻi? Loaʻa iā ia kekahi mau pilikia ʻili e like me ka eczema, ke kahe nui nei ke koko mai kahi palapū liʻiliʻi, a i ʻole ke palapū mau nei ʻo ia ma nā wahi āpau? ʻOiai he mea maʻamau kēia mau mea, i kekahi manawa aia paha kahi maʻi genetic kakaikahi ma hope o kēia mea a mākou i lohe ʻole ai. ʻO kekahi o ia ʻano maʻi ʻo Wiskott-Aldrich Syndrome. E kamaʻilio kākou e pili ana i kēia me nā kikoʻī hou aku i kēia lā.

He aha kēia Wiskott-Aldrich Syndrome?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina laha ʻole kēia. Hoʻopilikia nui ia i ka ʻōnaehana pale o kāu keiki a me ka hana o kekahi mau hunaola i loko o ke koko. Hiki i kēia ke hana i kekahi mau hōʻailona i ka manawa hoʻokahi. ʻO kēia mau mea:

• Eczema: He maʻi ʻili e hoʻoulu ai i nā ʻāpana ʻili maloʻo a ʻānai.
• Ka hemahema o ka pale ʻana: ʻAʻole hana pono nā hunaola koko keʻokeʻo e hakakā nei i nā maʻi i loko o ke kino.
• Ke kahe koko a me ka palapū: ʻOiai ka pā iki loa hiki ke hoʻoheheʻe i ke koko, a hiki ke loaʻa ka palapū ma nā wahi ma muli o ka paʻakikī i ke kāpili ʻana o ke koko.

Hiki i kēia kūlana ke alakaʻi i nā pilikia e hoʻoweliweli i ke ola. Hiki iā ia ke hoʻopōkole i kou ola. Eia nō naʻe, me nā lāʻau lapaʻau o kēia manawa, hiki ke hoʻemi nui ʻia kēia mau pilikia .

Pehea ka maʻamau o kēia ʻano?

He mea kākaʻikahi loa kēia. Ma ke ʻano helu helu, ua manaʻo ʻia he ʻekolu wale nō o kēlā me kēia miliona mau keikikāne i hoʻopilikia ʻia e ka Wiskott-Aldrich Syndrome. ʻOiai ma kahi ʻāina e like me ʻAmelika, aia ma lalo o 5,000 mau kānaka me kēia maʻi. Hoʻopilikia nui ia i nā keikikāne , a he mea kākaʻikahi loa ia no nā kaikamahine ke loaʻa iā ia.

He aha ka maʻi e pili ana i ka WAS?

Hiki paha i kāu kauka ke kuhikuhi i ka Wiskott-Aldrich Syndrome ma ke ʻano he maʻi pili i ka WAS. Pili kēia i nā kūlana e hoʻopilikia ai i ka ʻōnaehana pale ma muli o kahi mutation i loko o ka gene WAS. No ka laʻana, ʻo ka X-linked thrombocytopenia he maʻi pili i ka WAS nō hoʻi.

Eia nō naʻe, ʻo ke ʻano i kapa ʻia ʻo "congenital neutropenia" ua hoʻokumu ʻia e kahi mutation genetic ʻokoʻa, ʻaʻole pili i ka gene "WAS". ʻIke wale nā ​​​​kauka i kēia ʻano ma hope o ka loaʻa ʻana o kahi maʻi bacteria koʻikoʻi i ke keiki.

He aha nā hōʻailona o ka Wiskott-Aldrich Syndrome?

Ua ʻōlelo mua mākou he ʻekolu mau hōʻailona nui o kēia maʻi. E nānā kākou iā lākou me nā kikoʻī hou aku.

• Eczema: ʻO kēia ke kumu e maloʻo loa ai ka ʻili a me ka maneʻo., i kekahi manawa hiki ke lilo i ʻulaʻula a ʻōpala. Ua like ia me ka eczema i loaʻa i kekahi mau keiki liʻiliʻi, akā hiki ke ʻoi aku ka koʻikoʻi o kēia.

• Ka hemahema o ka pale ʻana: Hiki mai kēia ʻano ke hana pono ʻole nā ​​hunaola koko keʻokeʻo e kōkua ana i ka mālama ʻana i ko mākou kino i ke olakino. Hoʻemi kēia i ka hiki o ke kino ke hakakā i nā maʻi . I kekahi manawa hiki i ka ʻōnaehana pale ke hoʻomaka e hoʻouka i kona kino ponoʻī. Hiki i kēia ke alakaʻi i nā maʻi pinepine, a me nā kūlana e like me ka rheumatoid arthritis, vasculitis (ka mumū ʻana o nā kīʻaha koko), anemia (ka helu koko haʻahaʻa), leukemia (kahi ʻano maʻi koko), a i ʻole lymphoma (kahi ʻano maʻi kanesa o nā lymph nodes).

• Nā pilikia koko (Microthrombocytopenia): ʻO kēia ka manawa e emi ai ka helu o nā platelets, e kōkua ana i ke koko e hoʻopaʻa, a lilo paha i mea liʻiliʻi loa . ʻOiaʻiʻo, ʻo ia nā cell e kōkua ana i ka hoʻōki ʻana i ke koko. No laila, i ka wā e haʻahaʻa ai kēia mau mea, hiki i kahi ʻoki liʻiliʻi ke hana i ke koko e pau ʻole. Hiki i kēia ke hana i ka ʻeha , ke koko ihu, i kekahi manawa ka maʻi diarrhea koko, ke koko ma lalo o ka ʻili (purpura), a me nā kiko ʻulaʻula liʻiliʻi (petechiae) ma ka ʻili.

Mai makaʻu i kēia maʻi no ka mea wale nō he hoʻokahi a ʻelua paha o kēia mau hōʻailona kou. Akā inā hoʻomau kēia mau mea, ʻoi aku ka maikaʻi o ke ʻike ʻana i ke kauka.

Hiki i nā pēpē me ke ʻano koʻikoʻi loa o ka maʻi Wiskott-Aldrich (nalowale o ka hana) ke hōʻike i nā hōʻailona e like me:

• ʻEkika
• Ka hemahema o ka pale ʻana
• ʻO ka maʻi ʻū nui
• Pneumonia

I kekahi manawa, i nā hihia o ka neutropenia congenital i hoʻokumu ʻia e kahi gene WAS gain-of-function, hiki ke loaʻa nā maʻi bacteria koʻikoʻi a i ʻole ka myelodysplastic syndrome (kahi maʻi iwi).

He aha ke kumu o kēia?

ʻO ke kumu nui o ka Wiskott-Aldrich Syndrome he loli genetic, a i ʻole mutation, i loko o ka gene WAS . Aia kēia gene WAS ma ka lima pōkole o kā mākou chromosome X. Hoʻopuka kēia gene i ka protein Wiskott-Aldrich syndrome. Aia kēia protein i loko o ko mākou mau hunaola koko āpau.

Kōkua kēia protein maʻi Wiskott-Aldrich i kā mākou mau cell e hoʻopili i nā cell a me nā ʻiʻo ʻē aʻe ma o ka "adhesion." He mea nui loa kēia pipili no ka mea kōkua ia i kā mākou ʻōnaehana pale e lanakila i nā ʻenemi e like me nā bacteria a me nā virus e komo i loko o ke kino.

No laila, inā he hoʻololi ʻano hoʻoilina kou i loko o kāu gene `WAS`, ʻaʻole hiki i kāu mau hunaola koko ke hoʻopili pono i nā hunaola a me nā ʻiʻo ʻē aʻe. E pale kēia i ka ʻōnaehana pale mai ka hana pono ʻana i kāna hana. ʻO ia ke kumu o nā hōʻailona o ka Wiskott-Aldrich Syndrome.

I loko o ka neutropenia congenital, hoʻōki ka hoʻololi ʻana o ka genetic i ka neʻe ʻana o ʻelua ʻano cell, neutrophils a me monocytes, e pale ana i ka ʻōnaehana pale mai ka hoʻokuʻu ʻana i kēia mau cell e hakakā i nā maʻi.

He mea kēia i loaʻa mai nā hanauna mai?

ʻAe, he kūlana kēia e hiki ke hoʻoilina. Ua hoʻoilina ʻia ma ke ʻano "X-linked recessive". ʻO ke ʻano kēia, pono i ke keiki ke loaʻa ka loli genetic mai nā mākua ʻelua.

Hoʻoilina mākou i kā mākou mau chromosome moekolohe mai ko mākou mau mākua mai. Loaʻa i nā kāne hoʻokahi chromosome 'X' a me hoʻokahi chromosome 'Y'. Loaʻa i nā wahine ʻelua chromosome 'X'. Hoʻopilikia nui kēia maʻi i nā keikikāne, no ka mea, hoʻopilikia kēia hoʻololi ʻana i ka hana o kā lākou chromosome 'X' wale nō.

ʻOiai he ʻano ʻohana ka maʻi, ʻoi aku ma mua o 30% o nā maʻi āpau e loaʻa iā ia ka "de novo" , ʻo ia hoʻi ke kumu o kahi mutation genetic hou e kū mai ana i ka wā hapai.

Pehea ʻoe e ʻike ai i kēia?

ʻO ka maʻamau, ʻike ke kauka i ka Wiskott-Aldrich Syndrome i ka wā kamaliʻi a i ʻole ka wā kamaliʻi . Nānā ʻia ke keiki a hana ʻia nā hoʻokolohua e pono ai. ʻO nā hōʻailona mua o kēia kūlana, ʻo ia ke koko i loko o ka ʻōpala, ke kahe koko ʻē, a i ʻole ka palapū. Hiki i ke kauka ke hana i kēia mau hoʻokolohua e hōʻoia i ke kūlana:

• Helu koko piha (CBC)
• Hoʻāʻo koko genetic
• ʻO ka hoʻopili koko peripheral

Inā ʻaʻole ʻike ʻia kēia i ka wā kamaliʻi, e ʻike nui ʻia nā hōʻailona i ka wā kamaliʻi.

Inā hōʻike kāu keiki i nā hōʻailona o kahi ʻōnaehana pale i nāwaliwali, e like me nā maʻi pinepine, pono paha nā hoʻokolohua hou aʻe i ka wā kamaliʻi. ʻO kēia no ka mea ʻaʻole hiki i ke kino o ke keiki ke pale aku i nā bacteria a me nā virus, a ʻaʻole paha e pane maikaʻi i kekahi mau lāʻau pale.

Hiki i ke kauka ke hana i kahi hoʻāʻo koko e nānā inā ke hana nei ke kino o kāu keiki i nā antibodies ma hope o ka lāʻau pale. ʻO kēia mau antibodies ka mea e hana ai i kahi pane pale e pale aku i nā maʻi koʻikoʻi. Eia kekahi, e hana ʻia kekahi hoʻāʻo koko e nānā i nā hunaola koko keʻokeʻo o kāu keiki, ʻoiai nā hunaola T a me nā immunoglobulins (nāna e kōkua i ka hana ʻana i nā antibodies).

He aha nā lāʻau lapaʻau no kēia?

Hiki ke mālama ʻia ka Wiskott-Aldrich Syndrome ma nā ʻano penei:

• E mālama i nā maʻiNā lāʻau antibiotic a i ʻole nā ​​​​lāʻau antiviral.
• Hāʻawi ʻia nā infusions antibody (immunoglobulin) e hoʻihoʻi i nā antibodies i hoʻopau ʻia.
• Nā hoʻoili koko-platelet no nā pilikia kahe koko.
• Hiki ke mālama ʻia ka eczema me nā lāʻau lapaʻau topical a me nā moisturizers over-the-counter (OTC) .

Inā loaʻa i kāu keiki kahi maʻi a i ʻole ka maʻi ʻaʻai, hiki ke lilo i mea koʻikoʻi a hoʻoweliweli paha i ke ola . No ka pale ʻana i ke ola o kāu keiki, hiki iā ʻoe ke hoʻāʻo i kēia mau lāʻau lapaʻau:

• Hoʻoili pūnaewele kumu : ʻO kēia paha ka hopena maikaʻi loa i loaʻa i kēia manawa.
• ʻO ka lāʻau lapaʻau Gene (aia nō kēia i ke kahua noiʻi).

E kūkākūkā ke kauka o kāu keiki i kēia mau koho lapaʻau me ʻoe a hoʻolālā i ka lāʻau lapaʻau e hoʻokō i nā hopena maikaʻi loa no kāu keiki a hoʻomaikaʻi i ko lākou ola.

Inā loaʻa kēia maʻi i kaʻu keiki, he aha kaʻu e manaʻo ai?

Inā loaʻa i kāu keiki ka Wiskott-Aldrich Syndrome, e hoʻomohala kāu kauka i kahi hoʻolālā lapaʻau e kōkua i ka pale ʻana i nā pilikia e hoʻoweliweli i ke ola e hiki mai ana no ka mea ʻaʻole hana pono kā lākou ʻōnaehana pale. Ma hope o ka hōʻoia ʻana, hiki ke kuhikuhi ʻia ʻoe no ke aʻo ʻana i nā ʻano maʻi . Hiki i kēia ke kōkua iā ʻoe a me kou ʻohana e aʻo hou e pili ana i ke kūlana a me nā koho lapaʻau i loaʻa.

ʻOiai nā maʻi maʻamau o ka wā kamaliʻi e like me ka moa moa hiki ke hoʻoulu i nā pilikia olakino koʻikoʻi no kāu keiki. No ka mea, ʻaʻole ikaika kona ʻōnaehana pale e like me nā keiki ʻē aʻe o kona mau makahiki, pono paha ʻo ia e ʻike koke i ke kauka. ʻO ka mālama ʻana i nā maʻi a me nā maʻi i ka wā mua e hiki ke kōkua iā ʻoe e loaʻa nā hopena maikaʻi aʻe.

Hiki i kāu kauka ke ʻōlelo aku iā ʻoe ʻaʻole e hāʻawi i kāu keiki i nā lāʻau pale ola (e like me ka pana palū) no ka mea hiki i kahi ʻano ola o ka maʻi ke hoʻomaʻi i kāu keiki. ʻOiai inā loaʻa i kāu keiki kekahi mau lāʻau pale, ʻaʻole paha lākou e like me ka maikaʻi. Inā maʻi kāu keiki i kahi maʻi, hana maikaʻi ka mālama mua ʻana me nā lāʻau antiviral. Akā hiki i nā maʻi maʻamau ke hana i nā pilikia.

Pono paha kāu keiki i nā hoʻokolohua maʻamau no ke kanesa i ko lākou ola a pau no ka mea ua nui ka pilikia o ka loaʻa ʻana o kekahi mau ʻano kanesa, ʻoiai ka leukemia a i ʻole ka lymphoma .

Aia kekahi lāʻau lapaʻau piha no kēia?

ʻAe, hiki i kahi hoʻoili cell kumu (i kapa ʻia hoʻi he hoʻoili iwi iwi) ke ho'ōla i ka Wiskott-Aldrich Syndrome.Hoʻopau kēia mau ʻano hoʻoili i nā hunaola koko o ke kino a hoʻololi iā lākou me nā hunaola olakino. Ma muli o ka hoʻokumu ʻana o nā hunaola koko ʻē i ka Wiskott-Aldrich Syndrome, hiki i kahi hoʻoili hunaola ke hoʻololi i kēlā mau hunaola me nā hunaola olakino a hana pono.

He mea make anei ka maʻi Wiskott-Aldrich?

Hiki i ka maʻi Wiskott-Aldrich ke make . Ua hōʻike mua ʻia he 15 mau makahiki ka lōʻihi o ke ola o nā keiki me ka ʻole o ka hoʻoili ʻana i nā cell kumu. ʻO nā hōʻailona i hoʻokumu ʻia e nā maʻi, ke kahe koko ʻana i loko o ka lolo o ke keiki, nā maʻi koʻikoʻi a i ʻole ke kanesa hiki ke hoʻoweliweli i ke ola, a hiki ke make koke.

Eia nō naʻe, me ka holomua o ka ʻepekema lapaʻau, ua hiki i nā koho lapaʻau o kēia manawa ke hoʻomaikaʻi i ka manaʻolana holoʻokoʻa o ke ola o kahi keiki.

Hiki ke pale ʻia kēia?

He maʻi hoʻoilina kēia a ʻaʻole hiki ke pale ʻia . Inā ʻoe e hoʻolālā ana e loaʻa nā keiki a makemake ʻoe e ʻike i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi hoʻoilina, e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo hoʻoilina .

I ka manawa hea e pono ai iaʻu e ʻike i ke kauka o kaʻu keiki?

Inā maʻi kāu keiki a ua ʻike ʻia me ka Wiskott-Aldrich Syndrome, e kelepona koke aku i kā lākou kauka . No ka mea, ʻaʻole hana pono kā lākou ʻōnaehana pale, hiki iā lākou ke loaʻa pinepine i nā maʻi. Hiki i kāu kauka ke mālama i ka maʻi a i ʻole ka maʻi, a pale paha i nā pilikia e hoʻoweliweli ana i ke ola.

E ʻike i kāu kauka inā loaʻa i kāu keiki kekahi o kēia mau mea:

• Koko i loko o ka ʻōpala (ka maʻi kahe koko)
• Ka kahe pinepine ʻana o ka ihu
• Nā wahi nui o ka palapū
• Nā loli i ko lākou ʻili
• Nā maʻi e hana hou ʻia (e like me ka chickenpox koʻikoʻi a i ʻole ka thrush, nā maʻi bacteria)

He aha nā nīnau e pono iaʻu e nīnau aku i ke kauka?

Hiki iā ʻoe ke nīnau i ke kauka i nā nīnau penei:

• He aha ka lōʻihi o ke ola o kaʻu keiki?
• He aha nā huahana e hiki iaʻu ke hoʻohana e mālama ai i ka eczema a kaʻu keiki?
• Aia kekahi mau hopena ʻaoʻao i nā lāʻau lapaʻau āu e ʻōlelo nei?
• He kūpono anei kaʻu keiki no ka hoʻoili ʻana i nā cell kumu?

He aha ka ʻokoʻa ma waena o ka Wiskott-Aldrich Syndrome a me Ataxia-Telangiectasia?

ʻO ka Wiskott-Aldrich Syndrome a me ka Ataxia-Telangiectasia nā kūlana genetic e hoʻopilikia i ka hana o ka ʻōnaehana pale.Eia nō naʻe, ua hoʻokumu ʻia ka ataxia-telangiectasia e kahi mutation i loko o ka gene ATM. Hoʻopilikia ia i kāu neʻe ʻana a me ka hoʻonohonoho ʻana. Hoʻokumu pū ia i nā kīʻaha koko e ʻike ʻia he zig-zag ma kou ʻili.

ʻO nā mea nui loa e pono ai ʻoe e hoʻomanaʻo

Hiki ke hoʻoluhi nui ʻia ka ʻike ʻana he maʻi genetic kakaʻikahi ko kāu keiki e hoʻopilikia iā lākou no ke koena o ko lākou ola. Hiki ke lilo i mea hoʻohoka. Akā, mai hopohopo. E haʻi aku ke kauka o kāu keiki iā ʻoe i nā mea hou aʻe e pili ana i ke kūlana a pehea e hiki ai iā ʻoe ke kōkua i kāu keiki ma ka home. ʻAʻole paha e hana pono ana ka ʻōnaehana pale o kāu keiki, no laila e maʻi pinepine paha lākou.

He mea nui e mālama iā ʻoe iho i kou mālama ʻana i kāu keiki. He nui nā mākua a me nā ʻohana e loaʻa ana ka ʻoluʻolu a me ke kākoʻo nui i ke kamaʻilio ʻana me ke kākāʻōlelo olakino noʻonoʻo .

Me nā holomua o nā lāʻau lapaʻau o kēia manawa, hiki i nā keiki me kēia maʻi ke ola piha a hauʻoli. No laila e noho ikaika.

ʻO ka maʻi Wiskott-Aldrich, nā maʻi hoʻoilina, ʻōnaehana pale, eczema, kahe koko, hoʻoili ʻana i nā cell kumu, olakino keiki