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

Loaʻa pinepine anei i kāu keiki liʻiliʻi nā ʻōhūhū? A i ʻole ke ʻōlelo nei ʻoe ua ʻeha kona mau hono? ʻUlaʻula anei kona mau maka i kekahi manawa a ʻano pōwehiwehi iki kona ʻike? ʻOiai paha e hiki ke hana ʻia kekahi a ʻelua paha o kēia mau mea, i kekahi manawa hiki ke hana pū ʻia nā mea āpau. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi lapaʻau kakaʻikahi akā koʻikoʻi loa e makaʻala ai. ʻO ia ka Blau Syndrome .

He aha ka Blau Syndrome?

I ka ʻōlelo maʻalahi, ʻo Blau Syndrome kahi maʻi mumū laha ʻole e hoʻopilikia i ka ʻili o kāu keiki, nā hono, a me nā maka . ʻO ke ʻano o ka 'Inflammation' ka pehu a me ka ʻulaʻula i loko o ke kino. ʻO ke kumu nui o kēia ʻano he mutation genetic i hānau ʻia ai ke keiki . I ka manawa pinepine, hoʻomaka nā hōʻailona e like me ka ʻili ʻili, ka ʻeha hono, a i ʻole ka arthritis ma mua o ka piha ʻana o ke keiki i 5 mau makahiki . Hiki iā ia ke hana i kahi ʻano i kapa ʻia ʻo uveitis, kahi e hoʻopilikia ai i ka ʻike.

He aha ka manaʻo o ka inoa "Blau Syndrome"?

Ke lohe ʻoe i kēia inoa, e noʻonoʻo paha ʻoe i ke ʻano o kēia. E nānā kākou i ke ʻano o kēia mau huaʻōlelo ʻelua:

• Blau: ʻO kēia ka inoa o ke kauka. I ka makahiki 1985, ua paʻi ʻo Kauka Edward Blau, he kauka keiki mua ma Wisconsin, i kahi pepa noiʻi e pili ana i kēia maʻi. Ua wehewehe ʻo ia i kahi ʻohana i ʻeha i ka maʻi no ʻehā mau hanauna.
• Syndrome: I ka lāʻau lapaʻau, ʻo ka syndrome kahi kūlana e hui pū ai kekahi mau hōʻailona pili a hoʻopilikia i nā ʻāpana like ʻole o ke kino. ʻO ia hoʻi, he hui pū ʻana o nā hōʻailona ma mua o hoʻokahi maʻi.

He aha nā hōʻailona o ka Blau Syndrome?

Hoʻomaka pinepine nā hōʻailona o ka Blau syndrome i ka wā kamaliʻi . ʻO ka hapa pinepine, ʻike ʻia kēia mau hōʻailona i ka piha ʻana o 5 mau makahiki. Hoʻopilikia nui lākou i ka ʻili, nā hono, a me nā maka o kāu keiki.

Nā hōʻailona ʻili

ʻO ka hōʻailona mua o ka Blau syndrome he maʻi ʻili i kapa ʻia ʻo granulomatous dermatitis. He ʻōhū kēia e kū mai ana ma ka ʻili. ʻIke pinepine ʻia ia ma nā lima, nā wāwae, a i ʻole nā ​​wahi ʻē aʻe o ke kino, e like me ka umauma a me ka ʻōpū, i loko o ka makahiki mua o ke ola o ke keiki . Hiki i kēia ʻano dermatitis ke hana i nā hōʻailona e like me:

• Nā puʻupuʻu paʻakikī a i ʻole nā ​​​​nodules hiki iā ʻoe ke hoʻopā ma lalo o ka ʻili o kāu keiki . Ua kapa ʻia kēia he granulomas.
• Ua like ka ʻili me ke koʻa .
• Nā pehu ʻulaʻula, melemele, a ʻeleʻele paha ma ka papa luna o ka ʻili o ke keiki, ʻo ia hoʻi ka epidermis.Puka mai nā puʻupuʻu.

Nā hōʻailona ma nā hono

Hiki i ka maʻi Blau ke hoʻoulu i ka mumū o ka uhi o nā hono o kāu keiki, i kapa ʻia ʻo synovium. Hiki i kāu keiki ke loaʻa i ka arthritis ma nā wahi e like me nā lima, nā pulima lima, nā wāwae, a me nā kuʻekuʻe wāwae ma waena o nā makahiki 2 a me 4. ʻO nā hōʻailona o ka arthritis:

• ʻEha hui .
• ʻEha ka ʻiʻo o nā musculoskeletal , ʻoi aku hoʻi i nā tendons.
• Ka pehu ʻana a i ʻole ka ʻoʻoleʻa o nā hono .

E noʻonoʻo inā e uē ana kāu keiki liʻiliʻi i kona ala ʻana i ke kakahiaka, ʻaʻole hiki ke hoʻoneʻe i kona mau lālā, a inā paha e hoʻopiʻi mau ana ʻo ia ua ʻeha kona mau hono i kona hele ʻana e pāʻani, pono ʻoe e hopohopo no kēlā.

Nā hōʻailona maka

Ma kahi o 80% o nā keiki i ʻike ʻia me ka Blau syndrome e loaʻa i kahi maʻi maka i kapa ʻia ʻo uveitis. ʻO ka Uveitis kahi mumū o ka papa waena o ka maka, i kapa ʻia ʻo uvea. Hiki iā ia ke hoʻopilikia i ka retinas a me nā aʻalolo optic o ke keiki. Hiki i ke keiki ke loaʻa ka uveitis ma nā maka ʻelua , a hiki nō hoʻi ke kumu o ka nalowale ʻana o ka ʻike . ʻO nā hōʻailona o ka uveitis:

• ʻIke haʻahaʻa.
• ʻIke ʻoe i nā kiko ʻeleʻele liʻiliʻi ( nā mea lana maka) e neʻe ana i mua o kou mau maka.
• Ke ʻeha nei ʻoe a i ʻole ke kaomi i loko o kou mau maka .
• ʻUlaʻula o nā maka .
• Photosensitivity , ʻo ia hoʻi, lilo ia i mea paʻakikī ke ʻike i ka mālamalama.
• Ka pehu ʻana o nā maka .

Pehea ka hopena o ka Blau Syndrome i nā ʻāpana ʻē aʻe o ke kino?

ʻOiai he mea kakaikahi loa kēia, hiki i kāu keiki me ka Blau syndrome ke hoʻomohala i nā kūlana mumū e hoʻoweliweli ana i ke ola i loko o kēia mau ʻōpū:

• Nā kīʻaha koko
• lolo
• Puʻuwai
• Ake
• Nā kikowaena lymph (ʻōnaehana lymphatic)
• ʻŌpū

He aha nā pilikia e hiki ke loaʻa mai ka Blau Syndrome?

ʻO ke kūlana mumū i hoʻokumu ʻia e ka Blau syndrome hiki ke alakaʻi i nā pilikia e like me:

• ʻO nā cataracts, glaucoma, cystoid macular edema, retinal detachment, a me ka nalowale piha o ka ʻike.
• Ka paʻakikī i ka neʻe ʻana a me ke kulou mau ʻana o ka hui i hoʻopilikia ʻia.
• Maʻi puʻupaʻa a me ka hāʻule ʻana o ka puʻupaʻa .
• Ka mumū o ka puʻuwai.
• ʻŌpū nui.
• Neuropathy - nā pilikia o ke aʻalolo.
• ʻO ke koko kiʻekiʻe o ka pulmonary - ke koko kiʻekiʻe i loko o nā māmā.
• Vasculitis - ka mumū o nā kīʻaha koko.

He aha ke kumu o ka Blau Syndrome?

ʻO ke kumu nui o ka Blau syndrome he mutation i loko o ka gene NOD2 . I ka hapa nui o nā kānaka olakino, hana kēia gene NOD2 i kahi protein i kapa ʻia ʻo NOD2. Kōkua kēia protein i kā mākou ʻōnaehana pale e hakakā i nā germs a me nā maʻi. Eia nō naʻe, inā loaʻa i kāu keiki ka Blau syndrome, lilo kēia protein NOD2 i overactive . Hoʻololi kēia i ke ʻano o ka hana a ka ʻōnaehana pale, e hoʻoulu ai i ka mumū nui e hoʻopilikia i nā maka, ka ʻili, a me nā hono o ke keiki.

ʻO wai ka mea e pilikia ana i ka hoʻomohala ʻana i ka Blau Syndrome?

Inā loaʻa i kekahi makua ka maʻi Blau (a i ʻole ka hoʻololi ʻana o ka gene e hoʻokumu ai), he 50% ka manawa kūpono o ke keiki e hoʻoilina i ka gene i hoʻololi ʻia a me ka hoʻomohala ʻana i ka syndrome . Pono ke keiki e hoʻoilina i kekahi o nā gene i hoʻololi ʻia e hoʻomohala i ka maʻi. ʻO ke ʻano kēia he ʻano genetic ia no kahi hui i kapa ʻia ʻo autosomal dominant disorders. I kekahi manawa, hiki i kahi keiki ke hoʻoilina i kēia mutation gene a ʻaʻole e hoʻomohala i ka Blau syndrome. Eia nō naʻe, he 50% ka manawa kūpono o ke keiki e hoʻoili i ka gene i hoʻololi ʻia i kā lākou mau keiki i ka wā e hiki mai ana.

He aha ke ʻano o nā kauka e nānā a mālama i ka Blau Syndrome?

Ma muli o nā hōʻailona o kāu keiki, pono paha iā ia ka lāʻau lapaʻau mai kahi hui o nā loea, e like me:

• He rheumatologist (he kauka loea i nā maʻi hono) no ka maʻi ʻaʻai a me nā pilikia e pili ana i nā hono .
• He kauka ʻili (loea ʻili) no nā maʻi ʻili .
• He kauka maka (loea maka) no nā pilikia ʻike .

Pehea e ʻike ai nā kauka i ka Blau Syndrome?

ʻOkoʻa nā hoʻāʻo e ʻike ai i ka maʻi Blau ma muli o nā hōʻailona o kāu keiki. Hiki ke hana ʻia kahi hoʻāʻo genetic (hoʻāʻo koko) e ʻike ai i ka mutation gene NOD2 e hoʻoulu ai i ka maʻi Blau. Hiki i kāu keiki ke loaʻa i hoʻokahi a ʻoi aku paha o kēia mau hoʻāʻo:

• He hoʻokolohua makaHiki i kēia ke komo pū me nā hoʻokolohua e like me ka optical coherence tomography (OCT) a me ka hoʻāʻo ʻana i ke kahua ʻike.
• Nā hoʻāʻo kiʻi : MRI scan, CT scan, ultrasound, a i ʻole X-ray e nānā i nā hono a me nā ʻōpū ʻē aʻe ma muli o nā hōʻailona.
• Biopsy ʻili : Ke lawe ʻana i kahi ʻāpana liʻiliʻi o ka ʻili no ka hoʻokolokolo ʻana.

Hiki i nā hoʻokolohua prenatal ke ʻike i ka Blau Syndrome?

ʻAʻole hoʻāʻo pono nā hoʻokolohua prenatal e like me ka chorionic villus sampling a i ʻole amniocentesis no ka hoʻololi ʻana o ka gene NOD2.

He aha nā inoa ʻē aʻe no ka Blau Syndrome?

Hiki i ke kauka o kāu keiki ke kapa aku i ka Blau syndrome ma kekahi o kēia mau inoa:

• ʻO ka maʻi granulomatous o nā keiki
• ʻO ka granulomatosis uveal ʻeha o ka ʻili
• ʻO ka granulomatosis ʻohana
• ʻO ka granulomatosis ʻōnaehana ʻōpiopio ʻohana
• ʻO ka maʻi mumū granulomatous, dermatitis a me ka uveitis

Pehea ka laha ʻole o ka Blau Syndrome?

He maʻi laha ʻole ka Blau syndrome. Ma ka honua holoʻokoʻa, ʻaʻole ia e pili i hoʻokahi i loko o hoʻokahi miliona mau keiki .

Pehea e mālama ai nā kauka i ka Blau Syndrome?

E ho'āʻo ana ke kime lapaʻau o kāu keiki e mālama i nā ʻano maʻi like ʻole e hōʻemi i nā hōʻailona a pale i ka hoʻolaha ʻana o ka maʻi. ʻOkoʻa nā koho lapaʻau ma muli o ke ʻano a me kona koʻikoʻi. Hiki iā lākou ke komo pū me:

• Nā Immunosuppressants : Nā lāʻau lapaʻau e like me corticosteroids, methotrexate, a me nā mea hoʻopaʻa i ka tumor necrosis factor (TNF).
• Nā lāʻau anti-inflammatory : Nā lāʻau lapaʻau e like me nā lāʻau anti-inflammatory nonsteroidal (NSAID).
• Nā lāʻau lapaʻau maka a me/a i ʻole ke ʻoki maka no ka cataracts a me ka glaucoma .
• Ka hoʻōla kino a me nā lāʻau lapaʻau hana .

He aha ka wā e hiki mai ana o kekahi me ka Blau Syndrome?

ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no ka Blau syndrome, hiki i ka lāʻau lapaʻau ke hoʻomalu i nā hōʻailona a hāʻawi i kāu keiki i kahi ola maikaʻi i ka wā makua.Hiki iā ia ke kōkua. ʻOkoʻa ke ʻano o ka hopena o kēia maʻi i kēlā me kēia kanaka. Ua ʻike ʻia kekahi noiʻi he 40% o nā keiki me ka Blau syndrome he mau hōʻailona iki a hiki iā lākou ke hana e like me nā keiki ʻē aʻe o ko lākou mau makahiki. Eia nō naʻe, ma kahi o 10% o nā keiki e loaʻa nā hōʻailona koʻikoʻi. Inā hoʻopilikia ka Blau syndrome i nā ʻōpū nui o ke kino, hiki iā ia ke hoʻopōkole i ka manaʻolana ola o ke kanaka .

Hiki ke pale ʻia ka Blau Syndrome?

Inā loaʻa iā ʻoe a i ʻole kāu hoa ka hoʻololi ʻana o ka gene e hoʻoulu ai i ka Blau syndrome, he manaʻo maikaʻi e ʻike i kahi kākāʻōlelo genetic ma mua o ka loaʻa ʻana o nā keiki. Hiki i kēia loea ke kamaʻilio me ʻoe e pili ana i ka pilikia o kāu mau keiki e hiki mai ana e hoʻoilina i ka gene NOD2 i hoʻololi ʻia.

Āhea wau e ʻike ai i ke kauka?

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

• Inā pilikia ʻoe i ka paʻa ʻana i nā mea, ke kulou ʻana i kou mau hono, a i ʻole ka neʻe ʻana .
• Inā he ʻeha nui .
• Inā he mau pilikia ʻike kou.

He aha kaʻu e nīnau aku ai i kaʻu kauka?

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

• He aha ke kumu o ka loaʻa ʻana o ka Blau Syndrome i kaʻu keiki?
• He aha nā lāʻau lapaʻau a me nā ʻano lapaʻau e hiki ke kōkua i kaʻu keiki?
• Pono anei māua me kaʻu kāne/wahine e hana i kahi hoʻāʻo hoʻoilina?
• Pono anei au e makaʻala i nā hōʻailona o nā pilikia?

He aha ka ʻokoʻa ma waena o ka Blau Syndrome a me ka Early-Onset Sarcoidosis?

ʻO ka maʻi Blau a me ka sarcoidosis hoʻomaka mua he maʻi like ia , me nā hōʻailona like. Eia nō naʻe, hoʻoilina nā keiki me ka maʻi Blau i ka loli gene e hoʻoulu ai i ka maʻi. ʻAʻohe moʻolelo ʻohana o nā keiki me ka sarcoidosis hoʻomaka mua o ka maʻi Blau. ʻO ke ʻano kēia, loli a loli paha ka gene NOD2 i kekahi manawa , me ke kumu ʻole. Ua kapa ʻia kēia he de novo gene mutation.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

Hiki ke paʻakikī ka mālama ʻana i kahi keiki me kahi maʻi mau e like me Blau Syndrome. Inā loaʻa iā ʻoe ʻo Blau Syndrome, hiki paha iā ʻoe ke hoʻohana i kou ʻike pilikino e kākoʻo maikaʻi i kāu keiki. Hiki iā ʻoe ke hoʻohana i kou ʻike e kōkua i kāu keiki e ola me kēia maʻi no ke ola holoʻokoʻa. ʻO ka mea nui loa, ʻo ia ke ʻimi i ka lāʻau lapaʻau mai kahi loea i kamaʻāina i ka arthritis, uveitis, a me nā maʻi ʻili e pili ana me Blau Syndrome. Hiki iā lākou ke kōkua i kāu keiki e hoʻokele i kā lākou mau hōʻailona a kōkua iā lākou e loaʻa i ka wā kamaliʻi maikaʻi loa. Inā ʻike ʻoe i kekahi mau hōʻailona, ​​​​mai hoʻowahāwahā iā lākou. E ʻike koke i ke kauka.ʻO Blau Syndrome, Pediatrics, Nā Maʻi ʻIli, Arthritis, Uveitis, Nā Maʻi Genetic, NOD2 Gene