Loaʻa i kāu keiki kēia mau hōʻailona? E aʻo kākou e pili ana i ka Shprintzen-Goldberg Syndrome (SGS)

I kēia lā, e kamaʻilio ana mākou e pili ana i kahi maʻi genetic laha ʻole, ʻo ia hoʻi, ʻaʻole ʻike nā kānaka a pau. Ua kapa ʻia ʻo ia ʻo Shprintzen-Goldberg Syndrome (SGS). ʻAʻole paha ʻoe i lohe i kēia inoa. Akā, he mea nui loa ia e makaʻala i ia mau ʻano, no ka mea, a laila hiki iā mākou ke ʻike koke i nā hōʻailona a ʻimi i ke aʻo lapaʻau e pono ai.

He aha ka maʻi Shprintzen-Goldberg (SGS)?

I ka ʻōlelo maʻalahi, ʻo ka Shprintzen-Goldberg Syndrome (SGS) kahi maʻi genetic kakaikahi e hoʻopilikia i nā ʻāpana like ʻole o ko mākou kino. ʻO ia ke kumu nui o ka loaʻa ʻana o kekahi mau hiʻohiʻona helehelena ʻē i ke keiki, ka hui mua ʻana o nā iwi poʻo (ua kapa ʻia kēia ʻo "Craniosynostosis"), nā loli iwi like ʻole, nā pilikia me ka lolo a me ka ʻōnaehana nerve (no ka laʻana, ka lohi o ka ulu ʻana o ka noʻonoʻo), a i kekahi manawa kekahi mau kīnā puʻuwai.

Aia ʻelua mau inoa ʻē aʻe i hoʻohana ʻia no kēia ʻano, ʻo ia hoʻi ʻo "Marfanoid-craniosynostosis syndrome" a me "Shprintzen-Goldberg craniosynostosis syndrome". ʻOiai paha he mea paʻakikī iki nā inoa, ʻo ke kī, ʻo ia ka hoʻomaopopo ʻana he ʻano hoʻoilina kēia.

Pehea ka maʻamau o ka SGS?

He maʻi laha ʻole ka maʻi Shprintzen-Goldberg. I kēia manawa, ʻaʻole i ʻōlelo ʻia ma mua o 50 mau hihia o kēia maʻi e nā moʻolelo lapaʻau. ʻO ia hoʻi, he kakaikahi wale nō ka poʻe me kēia maʻi ma ka honua.

ʻO kekahi mea e pili ana i kēia, ʻo ia ka like o nā hōʻailona o SGS me ʻelua mau maʻi genetic ʻē aʻe i kapa ʻia ʻo Marfan Syndrome a me Loeys-Dietz Syndrome, no laila hiki i kekahi manawa ke paʻakikī iki i nā kauka ke ʻike pololei. No laila, he paʻakikī ke ʻōlelo pololei i ka nui o ka poʻe i loaʻa i kēia maʻi.

He aha ka ʻokoʻa ma waena o ka maʻi Shprintzen-Goldberg, ka maʻi Marfan, a me ka maʻi Loeys-Dietz?

ʻOiai ke ʻano like o nā hōʻailona o kēia mau kūlana ʻekolu, ua hoʻokumu ʻia lākou e nā ʻano hoʻololi genetic like ʻole . ʻOi aku ka nui o ka poʻe me SGS i loaʻa ke kīnā noʻonoʻo. Loaʻa iā lākou kahi haʻahaʻa o ka maʻi puʻuwai ma mua o ka poʻe me Marfan Syndrome a me Loeys-Dietz Syndrome. Akā e hoʻomanaʻo, hiki ke ʻokoʻa kēia mau mea āpau mai kēlā kanaka a kēia kanaka.

He aha nā kumu o ka maʻi Shprintzen-Goldberg (SGS)?

I ka hapanui o nā hihia, ʻo ke kumu nui o SGS he mutation i loko o kahi gene i kapa ʻia ʻo `(SKI)` i loko o ko mākou kino. Hoʻopuka kēia gene SKI i kahi protein e kōkua ana i nā kaʻina hana koʻikoʻi he nui i loko o kā mākou mau cell, e like me ka ulu ʻana, ka mahele ʻana, ka neʻe ʻana, ka oʻo ʻana, a me ka make.

E noʻonoʻo wale, ʻoiai aia kēia protein SKI i loko o nā ʻiʻo like ʻole o ko mākou kino, inā he loli i loko o kēia gene, hiki iā ia ke hoʻopilikia i nā ʻāpana like ʻole o ke kino. ʻO ia ke kumu e ʻike ai mākou i nā hōʻailona like ʻole ma SGS.

Eia nō naʻe, ʻaʻohe o kekahi mau maʻi SGS i ka hoʻololi ʻana o ka gene SKI, no laila ke noiʻi nei nā kānaka ʻepekema i nā kumu ʻē aʻe o ke ʻano i ia mau hihia.

He mea kēia i loaʻa mai nā hanauna mai?

I ka hapanui o nā hihia, ʻaʻole i hoʻoilina ʻia ka Shprintzen-Goldberg Syndrome.ʻO ka maʻamau, hiki mai kēia hoʻololi ʻana o ka genetics ma ke ʻano ulia pōpilikia, ʻo ia hoʻi, ma hope o ka hāpai ʻana, i ka wā o ka embryonic. No laila, ʻaʻohe moʻolelo ʻohana o ka poʻe he nui me kēia maʻi o ka maʻi.

Eia nō naʻe, he mea kākaʻikahi loa , hiki ke hoʻoili ʻia ke kūlana mai ka makua a i ke keiki. Inā hoʻoili ʻia, aia ia ma ke ʻano autosomal dominant. I ka ʻōlelo maʻalahi, ʻo ia hoʻi, inā loaʻa i kahi keiki kahi kope o ka gene mutated mai hoʻokahi makua wale nō, hiki nō i ke keiki ke loaʻa i ke kūlana.

He aha nā hōʻailona o ka maʻi Shprintzen-Goldberg (SGS)?

Hiki ke ʻokoʻa loa nā hōʻailona o SGS mai kēlā kanaka a kēia kanaka. Loaʻa i kekahi poʻe nā hōʻailona palupalu loa, aʻo kekahi poʻe he nui paha nā hōʻailona. Hiki i kēia mau hōʻailona ke hoʻopilikia i nā ʻāpana like ʻole o ke kino.

Nā hōʻailona o ka hui ʻana o nā iwi poʻo i ka wā ʻōpiopio (`(Craniosynostosis)`):

Inā hui pū nā iwi o ke poʻo o kahi pēpē i ka wā ʻōpiopio, ma loko o ka ʻōpū a i ʻole i ka wā hānau, he ʻano i kapa ʻia ʻo "Craniosynostosis", nā hōʻailona e like me:

• He poʻo lōʻihi a wīkiwiki.
• Hoʻonui ʻia ka mamao ma waena o nā maka, nā maka e puka ana i mua a i ʻole e kūlou ana i lalo.
• He lehelehe kiʻekiʻe a haiki (ka piko o ka waha).
• He lae kiʻekiʻe a ʻike nui ʻia.
• He lou liʻiliʻi ma lalo.
• Ua hoʻohaʻahaʻa ʻia nā pepeiao ma mua o ka maʻamau a i kekahi manawa ua hoʻohuli ʻia i hope.

Nā ʻano ʻē aʻe o ka iwi:

Ma waho aʻe o kēia, hiki ke ʻike ʻia nā loli ʻē aʻe i loko o ka iwi e like me:

• Hypermobility hui.
• Ka wāwae kalapu.
• ʻO ka ʻūhā e kū ana i mua a i ʻole ke poho i loko (Pectus excavatum/carinatum).
• ʻO ke skoliosis.
• Nā manamana lima kūlou mau loa (`(Camptodactyly)`).
• ʻOi aku ka lōʻihi ma mua o nā lima a me nā wāwae maʻamau.
• Manamana lima lōʻihi a lahilahi (`(Arachnodactyly)`). Wahi a kekahi ua like lākou me nā wāwae o ka nananana.

Hiki i kekahi poʻe ʻē aʻe ke loaʻa nā hōʻailona e like me kēia:

• Nā mea ʻino o ka lolo, no ka laʻana, ka nui o ka wai i loko o ka lolo (hydrocephalus).
• Nā lohi o ka ulu ʻana a me nā kīnā noʻonoʻo iki a kaulike.
• Nā pilikia o ka ʻōnaehana hoʻoheheʻe, no ka laʻana ka paʻa ʻana o ka ʻōpū a i ʻole ka lohi o ka hoʻokahe ʻana o ka ʻōpū (Gastroparesis).
• ʻO nā hernia ʻōpū a i ʻole pelvic (`(Hernias)`).
• Ka lahilahi o ka ʻili, me he mea lā e ʻike ʻia ana ma o ia mea, a me ka maʻalahi o ka palapū.
• Paʻakikī ka hanu ʻana.
• Ka nāwaliwali o nā ʻiʻo (`(Hypotonia)`). ʻO ke ʻano kēia o ke kūlana kahi e manaʻo ai ke kino ua make.

Nā hōʻailona puʻuwai kakaikahi:

ʻAʻole hiki kēia i nā kānaka a pau, akā hiki i kekahi poʻe ke hoʻomohala i nā maʻi puʻuwai e like me kēia:

• ʻO ka aneurysm aortic (ka nāwaliwali o ka paia o ka aorta).
• Ke kahe nei ke koko i hope no ka mea ʻaʻole pani pono ka valve aortic (Aortic regurgitation).
• Ka hoʻonui ʻia ʻana o ke aʻa o ka aorta (`(Aortic root dilation)`).
• Ke kahe nei ke koko mai ka valve puʻuwai (`(Mitral valve regurgitation)`).
• ʻO ka prolapse o ka valve mitral (hana hewa o ka valve mitral o ka puʻuwai).

ʻO ka mea nui, ʻaʻole i loaʻa i nā maʻi SGS āpau kēia mau hōʻailona āpau. Loaʻa paha i kekahi poʻe kekahi mau hōʻailona wale nō, a hiki ke ʻokoʻa ke koʻikoʻi o nā hōʻailona.

Pehea e ʻike ʻia ai ka maʻi Shprintzen-Goldberg (SGS)?

Hiki ke paʻakikī iki ka ʻike ʻana i ka SGS. E like me kaʻu i ʻōlelo ai ma mua, no ka mea he maʻi kakaikahi ia a hiki ke huikau me ka Marfan Syndrome a i ʻole Loeys-Dietz Syndrome, hiki ke hoʻopaneʻe ʻia ka ʻike ʻana i kekahi manawa.

Hana ke kauka i kahi hōʻailona ma muli o nā hōʻailona a me nā hōʻailona. ʻO ia hoʻi ka nānā pono ʻana i ke ʻano kino o ke keiki, ka ulu ʻana, a me nā pilikia olakino ʻē aʻe. I kekahi manawa hiki i ka hoʻāʻo genetic ke hōʻoia i ka mutation gene SKI. Eia nō naʻe, no ka mea hiki i ka poʻe me ka ʻole o kēia mutation gene ke loaʻa iā SGS, ʻaʻohe mau hoʻokolohua kikoʻī ʻē aʻe e hiki ke kōkua i ka hōʻailona.

Pehea e mālama ʻia ai ka maʻi Shprintzen-Goldberg (SGS)?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau kūikawā no kēia maʻi i kēia manawa. ʻO ka pahuhopu nui o ka mālama ʻana no ka Shprintzen-Goldberg Syndrome ka hoʻokele ʻana i nā hōʻailona a kōkua i ka mea maʻi e ola i ke ola maikaʻi e like me ka hiki.

Hiki ke ʻokoʻa nā koho lapaʻau, ma muli o nā hōʻailona o ka mea maʻi. Eia kekahi mau laʻana:

• E maʻalahi ana ka hele wāwae ma ke kau ʻana i nā kākoʻo wāwae a i ʻole ke kua (`(braces)`).
• E hoʻohana i kahi ʻōmole hānai, inā pono, e hōʻoia i ka meaʻai kūpono.
• Ke lawelawe ʻana i nā lāʻau lapaʻau e mālama ai i nā maʻi puʻuwai.
• ʻO ke ʻoki kino e hoʻoponopono ai i nā kīnā puʻuwai a i ʻole nā ​​​​pilikia iwi i loko o ke poʻo, ka iwi kuamoʻo, a i ʻole ka umauma.
• Inā ua ālai ʻia ke ala ea, hiki ke hana ʻia kahi puka ʻoki (tracheostomy) ma ke alo o ka ʻāʻī.

Eia kekahi, hiki i kāu kauka ke ʻōlelo i kēia mau hoʻokolohua i hoʻokahi manawa i ka makahiki a i ʻole i kēlā me kēia ʻelua makahiki, no ka mea hiki iā lākou ke kōkua iā ʻoe e ʻike inā he mau loli i kou kūlana:

• Hoʻāʻo mānoanoa o ka iwi.
• Hoʻāʻo Echocardiogram e nānā i ka puʻuwai.
• ʻO nā hoʻāʻo ʻo Magnetic resonance angiography (MRA) a i ʻole ka computed tomography angiography (CTA) e nānā i nā kīʻaha koko.
• E nānā i nā loli i loko o ka iwi (nā kukuna X).

Pono paha kahi hui o nā loea e mālama i kekahi me ka Shprintzen-Goldberg Syndrome. Hiki i kēia hui ke komo pū me nā loea e like me:

• Kauka Puʻuwai
• Kauka lapaʻau Craniofacial (kauka lapaʻau iwi poʻo a me ka maka)
• He kanaka loea i ka hoʻoilina
• Kauka lapaʻau lolo a me ka ʻōnaehana nerve (`(Neurosurgeon)`)
• Hoʻōla hana - Kekahi mea e kōkua i nā kānaka e hana i nā hana o kēlā me kēia lā me ka maʻalahi.
• Kauka maka - no nā pilikia ʻike (e.g. myopia).
• Kauka niho - No nā pilikia e pili ana i nā niho a me nā ʻā.
• Kauka lapaʻau Orthopedic (kauka lapaʻau iwi, hui a me ka iwi kuamoʻo)
• Kauka keiki
• Hoʻōla kino - He kanaka e kōkua ana i ka hoʻomaikaʻi ʻana i ka neʻe ʻana a me ka hana kino.
• Kauka Noʻonoʻo
• Radiologist (`(Radiologist)`) - no ke kiʻi ʻana i nā kiʻi lapaʻau.
• Luna hoʻōla ʻōlelo (`(Luna hoʻōla ʻōlelo)`) - no nā pilikia ʻōlelo.

Me ke kōkua o kēia poʻe a pau hiki iā mākou ke hāʻawi aku i ka lāʻau lapaʻau a me ka mālama maikaʻi loa i ka mea maʻi.

Hiki ke pale ʻia ka maʻi Shprintzen-Goldberg (SGS)?

ʻAʻohe ala i kēia manawa e pale aku ai i ka hoʻololi ʻana o ka genetic e hoʻoulu ai i ka Shprintzen-Goldberg Syndrome. ʻO kēia no ka mea e kū pinepine ia ma ke ʻano ulia. Eia kekahi, ʻaʻole maopopo i nā kānaka ʻepekema nā kumu ʻē aʻe e kōkua ai iā ia ma waho aʻe o ka gene SKI.

He aha ke kūlana o ke ola o ka poʻe me ka Shprintzen-Goldberg Syndrome (SGS)?

ʻO ke ola o kekahi kanaka me SGS e pili ana i ke koʻikoʻi o ke kūlana. I nā hihia me nā hōʻailona liʻiliʻi, ʻaʻole paha e hoʻopilikia nui ʻia ke ola. Eia nō naʻe, i nā hihia kahi i hoʻopilikia nui ʻia ai ka lolo, ka puʻuwai, a i ʻole ka ʻōnaehana hoʻoheheʻe ʻana, hiki ke hoʻopōkole ʻia ke ola.

He aha hou aʻe kaʻu e nīnau aku ai i kaʻu kauka e pili ana i ka Shprintzen-Goldberg Syndrome (SGS)?

Ke ʻike ʻoe ua loaʻa i kāu keiki ka maʻi Shprintzen-Goldberg, nui paha kāu mau nīnau. I kēlā mau manawa, he manaʻo maikaʻi e nīnau i kāu hui lapaʻau e like me:

• Ua hoʻoilina ʻia kēia hoʻololi ʻana o ka genetics, a i ʻole ua hana wale ʻia paha?
• He aha nā ʻōnaehana i loko o ke kino o ke keiki e hoʻopilikia ʻia e kēia maʻi?
• He aha ka lāʻau lapaʻau e pono ai kaʻu keiki?
• He aha nā hōʻailona a i ʻole nā ​​​​hōʻailona e pono ai ke kōkua lapaʻau koke?
• E lohi anei ka ulu ʻana o kaʻu keiki a i ʻole nā ​​​​kīnā noʻonoʻo?
• E hoʻopōkole anei kēia maʻi i ke ola o kaʻu keiki?
• He aha ke ʻano o nā loea e pono ai mākou e ʻike? ʻEhia pinepine?
• Pono anei e nānā pinepine ʻia nā iwi, ka puʻuwai, nā kīʻaha koko, a me ka lolo o kaʻu keiki?
• Aia kekahi mau hui kākoʻo e hiki ke kōkua iā mākou e ola me kēia kūlana?
• Ke paipai nei ʻoe i ke aʻoaʻo ʻana a i ʻole ka hoʻāʻo ʻana i ka genetics?

ʻOiai he maʻi hoʻoilina laha ʻole ʻo Shprintzen-Goldberg Syndrome, he mea nui e makaʻala iā ia a e ʻimi i ke kōkua lapaʻau i ka wā hikiwawe loa. Inā manaʻo ʻoe he mau hōʻailona kēia o kāu keiki, e ʻoluʻolu e kūkākūkā me kahi loea no kahi hōʻailona pololei.

ʻO ka mea hope loa, e hoʻomanaʻo i kēia (Leka Lawe-Home)

He maʻi laha ʻole ka Shprintzen-Goldberg Syndrome (SGS) i hiki ke hoʻololi i ka helehelena o ke keiki, ka iwi, ka lolo, a malia paha i ka puʻuwai.Hiki ke hoʻoilina ʻia kēia, a i ʻole hiki ke hana ma ke ʻano hūpō.

ʻOiai ʻaʻohe lāʻau lapaʻau, aia nā ʻano lāʻau like ʻole e kōkua i ka hoʻokele ʻana i nā hōʻailona. Me ke kākoʻo o kahi hui o nā loea, hiki i kāu keiki ke ola maikaʻi loa. Inā kānalua ʻoe he mau hōʻailona kēia o kāu keiki, mai makaʻu e kamaʻilio me ke kauka. Hiki i ka ʻike mua ʻana a me ka mālama kūpono ke hana i kahi ʻokoʻa nui. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia nā hui kākoʻo a me nā kumuwaiwai e kōkua i nā ʻohana e hana nei me kēia mau kūlana.

ʻO ka maʻi Shprintzen-Goldberg, SGS, nā maʻi genetic, Craniosynostosis, SKI Gene, nā ʻano ʻē o ka iwi, nā lohi o ka ulu ʻana, nā maʻi laha ʻole