Ke maʻi mau nei kāu keiki liʻiliʻi? Hiki paha iā XLA (X-Linked Agammaglobulinemia). E kamaʻilio kākou!

ʻOiai ke manaʻo nei mākou i kekahi manawa he mea maʻamau no kā mākou poʻe liʻiliʻi ke maʻi pinepine, no kekahi mau keiki hiki ke lilo kēia i mea pilikia nui. ʻOiai inā e ʻeha mau ana ke keikikāne i nā maʻi bacteria, hiki ke kumu o kahi maʻi genetic laha ʻole. I kēia lā e kamaʻilio mākou e pili ana i ia ʻano maʻi.

He aha ka XLA (X-Linked Agammaglobulinemia)?

ʻAe, he aha ka XLA (X-linked agammaglobulinemia)? I ka ʻōlelo maʻalahi, he kūlana genetic ia. Loaʻa i ko mākou kino kahi pūʻali koa koʻikoʻi o nā koa e hakakā i nā maʻi, a ʻo ia ko mākou ʻōnaehana pale . ʻO kahi ʻano cell kūikawā i loko o kēia ʻōnaehana i kapa ʻia ʻo B-cells . ʻO kēia mau B-cells ka mea e hana ai i nā protein i kapa ʻia ʻo antibodies e hakakā i nā maʻi ke maʻi ko mākou kino. Hana kēia mau antibodies e like me nā koa e pale aku ana i ko mākou ʻāina.

ʻAʻole hana pono ke kanaka me XLA (X-Linked Agammaglobulinemia) i kēia mau cell-B. A i ʻole he kakaikahi wale nō kā lākou hana ʻana. No laila, he aha ka mea e hana ai ke hiki ʻole iā ʻoe ke hana i nā antibodies? Loaʻa iā ʻoe ka maʻi maʻalahi a loaʻa pinepine ka maʻi. Eia kekahi, ʻo nā ʻiʻo i loko o ko mākou kino e pili ana i ka ʻōnaehana pale, e like me nā lymph nodes , tonsils, a me adenoids, ʻaʻole lākou e ulu pono, a i kekahi manawa ʻaʻole lākou e hana iki. ʻIke pinepine ʻia kēia ʻano ma nā keikikāne . E kamaʻilio mākou e pili ana i ke kumu o kēia ma hope.

ʻO kēia kūlana, i kapa ʻia ʻo XLA (X-Linked Agammaglobulinemia), ua ʻike ʻia hoʻi e nā inoa ʻē aʻe:

• ʻO ka agammaglobulinemia o Bruton
• ʻO ka agammaglobulinemia hānau
• Hypogammaglobulinemia

Eia nō naʻe, hoʻohana ʻia ka inoa Hypogammaglobulinemia no kekahi kūlana like. ʻO ia hoʻi ʻo CVID (Common Variable Immunodeficiency) . ʻAʻole ʻoi aku ka koʻikoʻi o CVID (Common Variable Immunodeficiency) e like me XLA (X-Linked Agammaglobulinemia), a ʻike pinepine ʻia i ka wā makua. Eia nō naʻe, ʻike ʻia nā keiki me XLA (X-Linked Agammaglobulinemia) ma mua o hoʻokahi makahiki a i ʻole i ka wā ʻōpiopio loa.

He aha ka ʻokoʻa ma waena o XLA (X-Linked Agammaglobulinemia) a me SCID (Severe Combined Immunodeficiency)?

I kēia manawa, ke noʻonoʻo nei paha ʻoe inā ʻo XLA kēia (X-Linked Agammaglobulinemia) a i ʻole ke ʻano immunodeficiency hui nui āu i lohe ai i kapa ʻia ʻo SCID (Severe Combined Immunodeficiency) . ʻAʻole, aia kahi ʻokoʻa iki ma waena o nā mea ʻelua. I ka XLA (X-Linked Agammaglobulinemia) , ʻo nā cell-B a mākou i kamaʻilio ai ma mua ka mea i hoʻopilikia nui ʻia. I ka SCID (Severe Combined Immunodeficiency) , ʻo nā cell-T ka mea i hoʻopilikia ʻia.ʻO kekahi ʻano koʻikoʻi o ke kelepona pale i kapa ʻia ʻo nā pūnaewele T (i kekahi manawa hiki ke hoʻopilikia ʻia nā pūnaewele B). ʻO nā mea ʻelua he mau kūlana genetic e hoʻonāwaliwali i ka ʻōnaehana pale a hoʻoulu pinepine i ka maʻi. Akā ʻo ka ʻokoʻa nui ma waena o nā mea ʻelua ʻo ke ʻano o ke kelepona i hoʻopilikia ʻia.

Pehea ka maʻamau o ka XLA (X-Linked Agammaglobulinemia)?

ʻO kēia kūlana i kapa ʻia ʻo XLA (X-Linked Agammaglobulinemia) he mea kākaʻikahi loa ia . ʻO ia hoʻi, ʻaʻole ia he maʻi i loaʻa i nā kānaka he nui. Eia naʻe, e like me kā mākou i ʻōlelo ai ma mua, ʻoi aku ka maʻamau i nā keikikāne . Ma ke ʻano helu, ma kahi o hoʻokahi i loko o ʻelua haneli tausani (200,000) mau keikikāne i hānau ʻia me XLA (X-Linked Agammaglobulinemia).

He aha nā hōʻailona o ka XLA (X-Linked Agammaglobulinemia)?

No ka mea, ʻaʻole i ulu pono nā ʻōnaehana pale o nā keiki me XLA (X-Linked Agammaglobulinemia), ʻaʻole pinepine a ʻaʻohe paha ko lākou mau lymph nodes, tonsils, a me adenoids . ʻO kēia ka mea e maʻalahi ai lākou i nā maʻi bacteria pinepine mai ka wā ʻōpiopio. Eia kekahi laʻana:

• Bronchitis : He maʻi kēia o ka bronchi, nā ʻōmole e alakaʻi ai i nā māmā.
• Nā maʻi pepeiao (Otitis media) : Nā maʻi o ka pepeiao waena.
• Sinusitis : Maʻi o nā sinus a puni ka ihu.
• Pneumonia : He maʻi ʻino e hoʻopilikia ai i nā māmā.
• Nā maʻi ʻōpū : Nā mea e like me ka ʻeha o ka ʻōpū a me ka maʻi pākī.

Akā, he mea nui e hoʻomanaʻo ʻaʻole maʻalahi nā keiki me XLA (X-Linked Agammaglobulinemia) i nā maʻi viral (e.g., Cytomegalovirus (CMV) , RSV (Respiratory Syncytial Virus) , a i ʻole nā ​​maʻi fungal . Hoʻopilikia nui ʻia lākou e nā maʻi bacteria.

He aha ke kumu o ka XLA (X-Linked Agammaglobulinemia)?

E like me kā mākou i ʻōlelo ai ma mua, he maʻi hoʻoilina ka XLA (X-Linked Agammaglobulinemia). ʻO ia hoʻi, hoʻoilina ke keiki mai ka makuahine, ka makuakāne, a i ʻole nā ​​mea ʻelua. Loaʻa iā mākou kahi gene i kapa ʻia ʻo ka gene BTK i loko o ko mākou kino. Kuhikuhi kēia gene i ko mākou kino e hana i nā cell-B. Ua ʻike mākou e hana nā cell-B i nā antibodies a hakakā i nā maʻi.

No laila, inā he loli a i ʻole ka mutation i loko o kēia gene BTK, ʻaʻole hiki ke hana pono ʻia nā cell-B. A laila, ʻo ka mea e hana ʻia, ʻo ke kanaka i loaʻa ʻole kēlā mutation gene ʻaʻole hiki ke hakakā i nā maʻi e like me kā lākou hana ʻana. ʻO ia ke kumu e maʻi mau ai lākou, a i kekahi manawa e ulu pū ana me nā maʻi koʻikoʻi e hiki ke hoʻoweliweli i ke ola.

He aha ka 'X-linked'?

I kēia manawa, e nānā kākou i ke ʻano o ka 'X-linked'. Loaʻa iā kākou āpau kā mākou mau genes mai nā mākua ʻelua. Aia kēia mau genes ma nā mea i kapa ʻia ʻo chromosomes . Hōʻike kēia mau genes i ko mākou kino pehea e hana ai i nā protein e pono ai lākou e hana. ʻO ka hapa nui o ka manawa, ʻoiai inā he loli i hoʻokahi gene, ʻo ke kope ʻē aʻe (ʻo kekahi mai ka makua ʻē aʻe) e mau ana, no laila hiki i ke kino ke hana e like me ka mea e pono ai.

Eia naʻe, ʻaʻole like nā chromosome wahine o nā kāne. Loaʻa iā lākou hoʻokahi chromosome X a me hoʻokahi chromosome Y. No laila, inā he mutation i loko o kahi gene ma kēia chromosome X, ʻaʻohe kope ʻē aʻe e hoʻoponopono ai. Aia ka gene BTK a mākou i kamaʻilio ai ma kēia chromosome X. ʻO ia ke kumu i kapa ʻia ai ʻo 'X-linked'. No laila, inā he mutation i loko o ke keiki kāne ma ka gene BTK ma kāna chromosome X, e loaʻa iā ia ʻo XLA (X-Linked Agammaglobulinemia).

ʻElua mau chromosome X a nā kaikamahine. ʻOiai ua loaʻa iā lākou ka mutation e hoʻoulu ai i ka XLA (X-Linked Agammaglobulinemia) ma kekahi o kā lākou mau chromosome X, ke hana pono nei ka gene BTK ma ka chromosome X ʻē aʻe, no laila hiki iā lākou ke hana i ka helu pono o nā cell-B. No laila, ʻaʻole lākou e loaʻa i ka maʻi, akā hiki iā lākou ke lilo i mau mea lawe . ʻO ia hoʻi, hiki iā lākou ke lawe i ka gene me ka ʻole o ka hōʻike ʻana i nā hōʻailona.

He aha nā kumu pilikia no ka XLA (X-Linked Agammaglobulinemia)?

A hiki i kēia manawa, ʻo ka mea pilikia wale nō i ʻike ʻia no ka hoʻomohala ʻana i ka XLA (X-Linked Agammaglobulinemia) he moʻolelo ʻohana o ke ʻano . ʻO ke ʻano kēia, ua hoʻoilina ʻia.

Hiki i nā kaikamahine ke loaʻa i ka XLA (X-Linked Agammaglobulinemia)?

ʻAe, he mea kākaʻikahi loa , hiki i kahi keiki wahine ke loaʻa iā XLA (X-Linked Agammaglobulinemia). Akā no kēlā mea, pono nā mākua ʻelua e lawe i kahi chromosome X me ka gene BTK i hoʻololi ʻia. ʻO ia hoʻi, he mea lawe ka makuahine a he XLA (X-Linked Agammaglobulinemia) nō hoʻi ka makuakāne. ʻO ka maʻamau, hiki i nā keiki wahine ke lilo i mea lawe i kēia hoʻololi genetic. A laila, inā ʻaʻole lākou i loaʻa i ka maʻi, hiki iā lākou ke hoʻoili i kēia gene i kā lākou mau keiki. Inā he mau keikikāne kēlā mau keiki, e loaʻa paha iā lākou ka XLA (X-Linked Agammaglobulinemia).

He aha nā pilikia e hiki mai ana o ka XLA (X-Linked Agammaglobulinemia)?

ʻO kekahi o nā pilikia e hiki ke hana me ka XLA (X-Linked Agammaglobulinemia) penei:

• Maʻi māmā mau loa : Hiki i nā maʻi māmā pinepine ke hōʻino i nā māmā i ka hala ʻana o ka manawa.
• Ka laha ʻana o ka maʻi i nā ʻāpana ʻē aʻe o ke kino : No ka laʻana, hiki i nā maʻi ke laha i ke koko (sepsis) a i ʻole ka lolo (meningitis).
• Aia kekahi kānalua e pili ana paha i ka piʻi ʻana o ka pilikia o kekahi mau ʻano maʻi kanesa , akā ke hana ʻia nei nā noiʻi hou aʻe e pili ana i kēia.

Pehea e ʻike ʻia ai ka XLA (X-Linked Agammaglobulinemia)?

Hiki i ke kauka ke hana i kekahi mau hoʻāʻo koko e ʻike ai inā loaʻa iā ʻoe a i ʻole kāu keiki ka XLA (X-Linked Agammaglobulinemia). Inā hōʻike kēia mau hoʻāʻo koko ua haʻahaʻa kāu mau cell-B a i ʻole nā ​​​​antibodies, a laila e hana kāu kauka i ka hoʻāʻo genetic . Nānā kēia i nā loli i ka gene BTK i loko o kāu DNA .

Pehea e mālama ʻia ai ka XLA (X-Linked Agammaglobulinemia)?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka XLA (X-Linked Agammaglobulinemia). Eia nō naʻe, aia nā lāʻau lapaʻau e hiki ke kōkua i ka pale ʻana i nā pilikia koʻikoʻi. ʻO nā mea nui:

• ʻO ka Lapaʻau Immunoglobulin Hoʻololi (RIgG) : Pili kēia i ka lawelawe ʻana i nā antibodies mai nā mea hāʻawi olakino ma o ka intravenous (IV). Hāʻawi ʻia kēia lāʻau lapaʻau ma ka liʻiliʻi hoʻokahi manawa i ka mahina . Kōkua kēia i ka kaohi ʻana i nā pae antibody haʻahaʻa i loko o ke kino i kekahi ʻano.
• Ke mālama ʻana i nā maʻi i ka wā mua : Ke kānalua ʻia ʻoe a i ʻole kāu keiki he maʻi, e hoʻomaka kāu kauka e mālama i nā maʻi bacteria me nā antibiotics . He mea nui e hoʻomaka i ka lāʻau i ka wā mua.
• Ke pale ʻana i nā lāʻau pale ola : ʻAʻole pono e loaʻa i nā kānaka me XLA (X-Linked Agammaglobulinemia) nā lāʻau pale ola . Hiki i kēia mau lāʻau pale ke hōʻeha i nā maʻi koʻikoʻi a hiki ke hoʻoweliweli i ke ola. ʻO nā laʻana e komo pū me ka lāʻau pale MMR (measles, mumps, rubella) , ka lāʻau pale chickenpox - varicella, a me ka lāʻau pale polio waha . No laila, he mea nui e kamaʻilio me kāu kauka e pili ana i kēia a e hoʻomaopopo piha ʻia.

He aha ka mea e manaʻo ai kekahi me XLA (X-Linked Agammaglobulinemia)?

Pono ka poʻe me XLA (X-Linked Agammaglobulinemia) e lawe i ka lāʻau lapaʻau no ke koena o ko lākou ola . ʻO kēia ke hōʻemi i ko lākou pilikia o ka loaʻa ʻana o nā maʻi. Pono lākou e mālama i kahi pilina pili me kā lākou kauka a ʻimi i ka lāʻau lapaʻau i ka wā e loaʻa ai kekahi maʻi. ʻO ʻoe a i ʻole kāu keiki me XLA (X-Linked Agammaglobulinemia) e haʻalele paha i nā lā kula a me nā lā hana ma muli o ka maʻi ma mua o ka heluna kanaka maʻamau.

ʻEhia ka lōʻihi o ke ola ʻana o ka poʻe me XLA (X-Linked Agammaglobulinemia)?

He mea maikaʻi maoli nō ia, me ka hoʻomohala ʻana o nā ʻano lapaʻau , ke ola nei ka poʻe me XLA (X-Linked Agammaglobulinemia) ma nā ʻāina holomua e like me ʻAmelika a hiki i ka wā makua . Eia nō naʻe, ma nā ʻāina e ulu ana, he mea paʻakikī loa ka ʻike ʻana a me ka loaʻa ʻana o ka lāʻau lapaʻau. No laila, ma ke ʻano laulā, hiki ke hoʻemi ʻia ka manaʻolana ola o nā keiki me XLA (X-Linked Agammaglobulinemia) ma ia mau ʻāina. Akā ma Sri Lanka, aia i kēia manawa nā lāʻau lapaʻau maikaʻi no ia mau kūlana.

Hiki ke pale ʻia ka XLA (X-Linked Agammaglobulinemia)?

Inā ʻoe e hopohopo nei e pili ana i ka XLA (X-Linked Agammaglobulinemia), ʻo ia hoʻi, aia kekahi o kou ʻohana i loaʻa i ke ʻano, hiki iā ʻoe ke ʻike i ke kauka a loaʻa ka nānā ʻana i ka genetic . Hiki i kēia ke kōkua iā ʻoe e ʻike e pili ana i nā kūlana genetic hiki iā ʻoe ke hoʻoili i kāu keiki. Inā he mea lawe ʻoe i ka mutation gene e hoʻoulu ai i ka XLA (X-Linked Agammaglobulinemia), ke loaʻa iā ʻoe kahi keiki, aia he 50% ka manawa e hoʻoilina ai kēlā keiki i ka mutation. Inā he keikikāne kēlā keiki, hiki iā ia ke loaʻa iā XLA (X-Linked Agammaglobulinemia). Inā loaʻa iā ʻoe ka XLA (X-Linked Agammaglobulinemia), e lilo kāu mau kaikamahine i mau mea lawe. E hāʻawi aku kahi kākāʻōlelo genetic a i ʻole ke kauka nāna i kauoha i ka hoʻāʻo iā ʻoe i nā ʻōlelo aʻoaʻo hou aʻe e pili ana i kēia.

Pehea wau e mālama ai iaʻu iho?

ʻO ke ala maikaʻi loa e mālama ai iā ʻoe iho me XLA (X-Linked Agammaglobulinemia) ʻo ia ke kau mua i kou olakino . E mālama i nā manawa a kāu kauka. E aʻo e ʻike i nā hōʻailona o kahi maʻi. E nīnau i kāu kauka i ka mea e hana ai inā loaʻa iā ʻoe nā hōʻailona o kahi maʻi.

Āhea wau e ʻike ai i ke kauka?

ʻOi aku ka maikaʻi o ke kamaʻilio ʻana me ke kauka i nā hihia e like me kēia:

• Inā maʻi kāu keiki ma hope o ka loaʻa ʻana o kahi lāʻau pale ola (e like me ka lāʻau pale MMR, ka lāʻau pale moa).
• Inā loaʻa pinepine kāu keiki i nā maʻi bacteria .
• Inā loaʻa pinepine iā ʻoe nā maʻi bacteria (ʻoiai he ʻano like kēia me CVID, ka mea e hoʻopilikia pū i nā pākeke).

E hiki i ke kauka ke haʻi iā ʻoe inā pono e noiʻi hou ʻia kēia a i ʻole.

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

He mea kōkua paha iā ʻoe ke nīnau i nā nīnau e like me kēia ke ʻike ʻoe i kāu kauka:

• He aha nā hōʻailona o ka maʻi e pono iaʻu e makaʻala?
• He aha kaʻu e hana ai inā manaʻo wau ua loaʻa iaʻu a i ʻole kaʻu keiki kahi maʻi?
• He aha nā koho lapaʻau?
• ʻEhia pinepine kaʻu a me kaʻu keiki e pono ai ka lāʻau lapaʻau?

He mea maʻamau i nā keiki liʻiliʻi ke maʻi pinepine. Akā inā loaʻa pinepine kāu keiki i nā maʻi bacteria, aia paha kekahi mea ʻē aʻe ma hope o ia mea. E kamaʻilio me kāu kauka e pili ana i nā hopohopo āu e loaʻa ai. ʻO ka loaʻa ʻana o kahi hōʻailona a me ka lāʻau lapaʻau i ka wā mua ke ala maikaʻi loa e loaʻa ai nā hopena maikaʻi loa.

Inā ʻoe e noho nei me ka XLA (X-Linked Agammaglobulinemia) - kahi kūlana genetic kahi i hana pono ʻole ai kou kino i nā cell-B - e hahai pololei i nā ʻōlelo a kāu kauka. He mea nui loa ka hiki ke ʻike i nā hōʻailona o kahi maʻi i hiki iā ʻoe ke loaʻa ka lāʻau i ka wā hikiwawe.

ʻO nā mea nui e hoʻomanaʻo ma kēia ʻatikala

ʻAe, eia kekahi mau mea e pono ai ʻoe e hoʻomanaʻo mai nā mea a mākou i kamaʻilio ai e pili ana i ka XLA (X-Linked Agammaglobulinemia):

• He aha ka XLA (X-Linked Agammaglobulinemia)?He ʻano maʻi hoʻoilina laha ʻole e hoʻopilikia nui ana i nā keikikāne .
• ʻO kēia ka manawa e ulu pono ʻole ai nā cell-B o ke kino, e hopena ana i ka emi ʻana o nā antibodies a me nā maʻi bacteria pinepine .
• Hiki i nā mea e like me nā tonsils a me nā adenoids ke emi a nalo paha.
• ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia, hiki ke kaohi maikaʻi ʻia me ka mālama ʻana no ke ola holoʻokoʻa (RIgG) a me ka mālama koke ʻana i nā lāʻau antibiotic.
• ʻAʻole maikaʻi ke hāʻawi ʻana i nā lāʻau pale ola i kēia poʻe.
• Inā maʻi pinepine kāu pēpē keikikāne, he mea nui loa ia e ʻimi koke i ke kōkua lapaʻau. ʻO ka ʻike mua ʻana a me ka mālama ʻana e kōkua nui i kāu keiki e ola i ke ola maʻamau.

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. Inā he mau nīnau kāu, mai kānalua e kamaʻilio me kāu kauka ʻohana!

ʻO ka agammaglobulinemia i hoʻopili ʻia me X, XLA, nā pūnaewele B, ʻōnaehana pale, nā maʻi genetic, ka maʻi pinepine, nā keikikāne, nā antibodies, ka gene BTK, ka lāʻau lapaʻau RIgG