Loaʻa i kāu keiki liʻiliʻi kēia maʻi laha ʻole? E kamaʻilio kākou e pili ana i ka Kabuki Syndrome

Ua lohe paha ʻoe i ka Kabuki Syndrome? ʻAʻole paha. No ka mea, he maʻi genetic kakaʻikahi ia. Akā he mea nui e makaʻala i ia mea, ʻoiai inā he makua ʻoe. I ka ʻōlelo maʻalahi, hiki i kēia maʻi ke hoʻopilikia i nā ʻāpana like ʻole o ke kino o kāu keiki. I ka manawa pinepine, loaʻa i kēia mau keiki nā hiʻohiʻona helehelena ʻokoʻa, nā loli iki i ko lākou ʻōnaehana iwi, kekahi mau lohi i ka ulu ʻana o ka noʻonoʻo, a me nā pilikia ulu ma hope o ka hānau ʻana. Akā, ʻaʻole i loaʻa i kēlā me kēia keiki kēia mau hōʻailona, ​​a hiki ke ʻokoʻa ke koʻikoʻi o ke ʻano mai kēlā kanaka a i kēia kanaka. E kamaʻilio kākou e pili ana i kēia me nā kikoʻī hou aku, ʻeā?

Pehea i loaʻa ai ka inoa ʻo "Kabuki"?

He moʻolelo hoihoi loa nō hoʻi kēia. I ka makahiki 1981, ua ʻike mua ʻia kēia maʻi i kapa ʻia ʻo Kabuki Syndrome e nā kānaka ʻepekema Kepanī ʻelua. Ua kapa ʻia ʻo "Kabuki Makeup Syndrome" e kekahi o lākou. ʻO ke kumu o kēia, ʻo nā hiʻohiʻona o ka helehelena o nā keiki he nui me kēia maʻi e like me ke ʻano o nā mea hana keaka ma nā pāʻani "Kabuki", he hana keaka Kepanī kuʻuna. E noʻonoʻo, ʻo ke ʻano o ke kau ʻana o nā mea hana keaka i ko lākou mau maka a me ke ʻano o ko lākou mau maka ua like ia me nā hiʻohiʻona o ka helehelena o kēia mau keiki. Akā ma hope mai, ua wehe nā kānaka ʻepekema i ka huaʻōlelo "makeup" a hoʻomaka e hoʻohana i ka inoa "Kabuki Syndrome". I kekahi manawa lohe paha ʻoe i kēia maʻi i kapa ʻia ʻo "Kabuki disease", "KMS" a i ʻole "Niikawa-Kuroki syndrome".

He aha nā hōʻailona o ka maʻi Kabuki?

ʻOiai he maʻi hānau ʻia ʻo Kabuki syndrome, ʻaʻole paha e hōʻike kāu pēpē i nā hōʻailona i ka wā hānau. I kekahi manawa hiki ke hala kekahi mau makahiki no ka ʻike ʻia ʻana o nā hōʻailona. He mea nui hoʻi e hoʻomanaʻo he ʻokoʻa paha nā hōʻailona e ʻike ai kāu keiki a me ko lākou koʻikoʻi mai kēlā kanaka a i kēia kanaka.

Hiki i ka maʻi Kabuki ke hoʻopilikia i nā ʻōkana a me nā ʻōnaehana like ʻole i ke kino o ke keiki. E nānā kākou i nā hōʻailona maʻamau:

Nā hiʻohiʻona helehelena kikoʻī

ʻO kēia ka mea mua a nā kānaka he nui e ʻike ai.

• Piʻi aʻe nā maka lihilihi a ua hoʻokaʻawale ʻia. Aia paha he nalowale o ka lauoho ma ka piko o nā maka lihilihi.
• Lilo nā puka ma waena o nā lihilihi (palpebral fissures) i lōʻihi ʻē aʻe.
• Lilo ka piko o ka ihu i pālahalaha.
• Hiki i nā pepeiao ke nui a me ke ʻano kīʻaha.

Nā loli i loko o ka ʻōnaehana iwi

Hiki ke ʻike ʻia kekahi mau loli i nā iwi o ke kino.

• Nā ʻano ʻē o ka iwi kuamoʻo (e like me ka scoliosis).
• Hiki ke pelu ʻia ka manamana lima ʻākala. Ua kapa ʻia kēia he clinodactyly ma nā ʻōlelo lapaʻau.
• Hiki ke pōkole nā ​​​​manamana lima a me nā manamana wāwae (brachydactyly).

Nā ʻano e pili ana i ka ʻōnaehana nerve

Hiki iā ʻoe ke ʻike i kekahi mau mea e pili ana i ka lolo a me ka ʻōnaehana nerve.

• Ke kīnā noʻonoʻo iki a kaulike paha.
• Nā hopu ʻana o ka maʻi ʻepileptika.
• Ka lohi o ka ʻōlelo.
• Ka nāwaliwali o nā ʻiʻo (ua kapa ʻia kēia he "hypotonia"). ʻO ke ʻano kēia, ua palupalu iki ke kino.

Nā pilikia ulu a me ka ʻōpū

Hiki i kēia ke hoʻopilikia i ka ulu ʻana o ke keiki a me kāna mau ʻano ʻai.

• Hiki ke maʻamau ke kiʻekiʻe a me ke kaumaha i ka wā hānau, akā hiki ke ʻike ʻia kekahi mau pilikia ulu ma kahi o 12 mau mahina.
• ʻOi aku paha ka liʻiliʻi o ka nui o ke poʻo ma mua o ka awelika.
• Loaʻa paha ka pilikia i ka ʻai ʻana a me ke ale ʻana.
• Aia ka pilikia o ka momona i kou wā ʻōpiopio a i kou wā makua.

He mea nui: ʻO hoʻokahi a ʻelua paha o kēia mau hōʻailona ʻaʻole ia he manaʻo he maʻi Kabuki ko ke keiki. He mea nui e ʻimi i ke kōkua lapaʻau no ka loaʻa ʻana o kahi hōʻailona pololei.

Nā ʻōpū a me nā ʻōnaehana ʻē aʻe e hoʻopilikia ʻia paha

Ma waho aʻe o kēia mau hōʻailona nui, hiki i ka maʻi Kabuki ke hana i nā pilikia like ʻole.

• Maʻi puʻuwai hānau (maʻi puʻuwai i loaʻa i ka wā hānau).
• Nā pilikia gastrointestinal (e like me ka constipation, reflux gastrointestinal a i ʻole ka meaʻai e piʻi mai ana i loko o ka puʻu).
• Nā pilikia o ka puʻupaʻa a me ka ʻōnaehana hānau.
• Lehelehe māwae a me/a i ʻole lehelehe.
• Nā lihilihi maka e kulou ana a i ʻole nā ​​lihilihi maka e kulou ana.
• Loaʻa nā hakahaka nui ma waena o nā niho.
• ʻO ka hoʻonui ʻia o ka pilikia o nā maʻi pinepine a i ʻole nā ​​​​maʻi autoimmune.
• Ka hemahema o ka lohe.
• ʻŌpio mua.

He aha ke kumu o ka maʻi Kabuki?

ʻAe, i kēia manawa e nānā kākou i ke kumu nui o kēia ʻano. Hoʻokumu ʻia ka maʻi Kabuki e kahi ʻano like ʻole (variant) i loko o kekahi o nā genes ʻelua.

I ka hapanui o nā hihia, ma kahi o 75%, ua hoʻokumu ʻia e kahi mutation i loko o kahi gene i kapa ʻia ʻo `KMT2D` (i ʻike mua ʻia ʻo `MLL2`). Ua kapa ʻia kēia ʻo Kabuki syndrome type 1.

ʻO ke koena o 3% a 5% i hana ʻia e kahi mutation i loko o ka gene KDM6A. Ua kapa ʻia kēia ʻo Kabuki syndrome type 2.

I ka ʻōlelo maʻalahi, haʻi kēia mau genes ʻelua i kā mākou mau cell e hana i nā enzymes kūikawā. Hoʻololi kēia mau enzymes i nā protein i kapa ʻia ʻo histones. Hoʻopili kēia mau histones i kā mākou DNA a hāʻawi i kā mākou chromosomes i ko lākou ʻano. No laila, ma ka hoʻololi ʻana i kēia mau histones, hiki i kēlā mau enzymes ke kāohi i ka hana o kā mākou mau genes. He mea nui loa kēia mau enzymes no ka ulu ʻana o ke keiki.

No laila, i ka wā e loli ai ka gene `KMT2D` a i ʻole ka gene `KDM6A`, ʻaʻole i hana ʻia kēia mau enzymes. A laila, no ka mea ʻaʻohe o ke kino i kēia mau enzymes, ʻaʻole hana pono nā genes. ʻO ia ke kumu o nā hōʻailona a me nā ʻano ulu ʻole i ʻike ʻia ma ka maʻi Kabuki.

Eia nō naʻe, i kekahi manawa ua ʻike ʻia ka maʻi Kabuki akā ʻaʻohe loli i loaʻa i kēlā me kēia gene. I ia mau hihia, ʻaʻole hiki i nā loea ke kuhikuhi i ke kumu pololei o ke ʻano.

Pehea e ʻike ai nā kauka i kēia?

Inā manaʻo ʻoe he mau hōʻailona kēia kāu keiki, ʻo ka mea mua āu e hana ai, ʻo ia ke ʻike i ke kauka. E nīnau ke kauka iā ʻoe e pili ana i ka mōʻaukala olakino o kāu keiki a nānā i kāu keiki. E ʻimi ʻo ia i nā hiʻohiʻona helehelena kikoʻī, nā ʻano ʻē o ke kino, a i ʻole nā ​​​​​​ʻano ʻē o ka neurological e pili ana me ka maʻi Kabuki. E nīnau pū ʻo ia e pili ana i ka mōʻaukala olakino o ka ʻohana o ke keiki (ʻohana biological).

Nā hoʻokolohua diagnostics

No ka hōʻoia ʻana i ka maʻi, e kauoha ke kauka i ka hoʻāʻo ʻana i ka genetic. Pili kēia i ka lawe ʻana i kahi hāpana o ke koko o ke keiki a me ka ʻimi ʻana i nā loli i loko o nā genes e hoʻoulu ai i ka maʻi Kabuki.

E like me kaʻu i ʻōlelo ai ma mua, ʻaʻole paha he mutation o kekahi mau keiki me ka maʻi Kabuki i kekahi o kēia mau genes. I kēlā mau hihia, hiki i ke kauka ke hana i nā hoʻokolohua koko ʻē aʻe a i ʻole nā ​​​​haʻawina chromosomal e kāpae i nā kūlana ʻē aʻe.

He aha nā lāʻau lapaʻau no ka maʻi Kabuki?

He mea kaumaha iki paha kēia, akā ʻaʻohe lāʻau lapaʻau no ka maʻi Kabuki. Eia nō naʻe, aia nā lāʻau lapaʻau. ʻO ka pahuhopu nui o kēia mau lāʻau lapaʻau, ʻo ia ke kāohi i nā hōʻailona kikoʻī o kāu keiki a hōʻemi i ka pilikia o nā pilikia. E nānā kākou i kēia mau koho lapaʻau:

• Nā Hana Waena Mua: ʻO ka hoʻouna ʻana i kahi keiki i nā lawelawe kākoʻo a me nā papahana hoʻonaʻauao kūikawā i ka wā ʻōpiopio e kōkua i ko lākou ulu ʻana o ka noʻonoʻo.
• Lapaʻau hoʻohui ʻike: Pili kēia i ka hōʻike ʻana i ke keiki i nā hana sensory like ʻole a me ke kōkua ʻana iā lākou e hoʻokele i ke ʻano o kā lākou pane ʻana i nā stimuli.
• Nā ʻano lapaʻau like ʻole:
• Hiki i ka hoʻoikaika kino ke hoʻoikaika i nā ʻiʻo o ke keiki.
• Hiki i ka hana hoʻoponopono hana ke kōkua i ka hoʻomohala ʻana i nā mākau motika maikaʻi, e like me nā neʻe liʻiliʻi i hana ʻia me nā manamana lima.
• Hiki i ka ʻōlelo lapaʻau ke kōkua i ka hoʻomohala ʻana i nā mākau ʻōlelo a me nā mākau ʻōlelo.
• Nā meaʻai mānoanoa a/a i ʻole ke komo ʻana o kahi ʻōmole gastrostomy: Inā pilikia kāu keiki i ka ʻai ʻana, hiki i kāu kauka ke kuhikuhi i kēia mau koho.
• Lapaʻau hormone ulu pākuʻi: Hiki i nā keiki me ka hemahema o ka hormone ulu a me ke kino pōkole ke pōmaikaʻi mai kēia lāʻau.
• Nā mea kōkua hoʻolohe a i ʻole nā ​​​​ʻōmole hoʻohālikelike kaomi: Inā ua nalowale kou lohe, hiki i kēia mau mea ke kōkua.
• Lāʻau lapaʻau: Hiki ke hoʻohana ʻia nā lāʻau lapaʻau e kāohi i nā hōʻailona e like me ka hopu ʻana, ka reflux gastrointestinal, a me ka ADHD (maʻi hyperactivity deficit).
• ʻO ke ʻoki kino:Aia kekahi mau manawa e pono ai ke ʻoki kino no nā mea e like me ka scoliosis, ka maʻi puʻuwai, a me ka lehelehe māwae a me ka palale.

ʻO ke ʻano o ka lāʻau lapaʻau e loaʻa ai i kāu keiki e pili ana i nā ʻāpana o ko lākou kino i hoʻopilikia ʻia a me kā lākou mau hōʻailona. Pono paha lākou e ʻike i nā ʻano loea like ʻole (e.g., he cardiologist, he neurologist, he dentist, he endocrinologist, he gastroenterologist, he immunologist, he ophthalmologist, a i ʻole he urologist).

Ke hana ʻia nei nā hoʻokolohua lapaʻau a me nā noiʻi ʻē aʻe e ʻimi ai i kahi lāʻau lapaʻau no ke kumu nui o ka maʻi Kabuki.

Inā loaʻa ka Kabuki syndrome i kaʻu keiki, pehea e hiki ai iaʻu ke kōkua iā ia?

He mea maʻamau ke manaʻo i ka haʻalulu a me ka makaʻu ke aʻo ʻoe i kahi mea e like me kēia. Akā, ʻaʻole ʻoe hoʻokahi. ʻO ka mea nui loa hiki iā ʻoe ke hana, ʻo ia ke aʻo i ka nui o kāu hiki e pili ana i kēia maʻi. E hana pū me ke kauka o kāu keiki e ʻike i ka mea hiki iā ʻoe ke hana e hāʻawi i ka mālama maikaʻi loa no kāu keiki. Hiki nō hoʻi ke kōkua nui i ka hui pū ʻana me nā hui kākoʻo no nā ʻohana o nā keiki me nā maʻi laha ʻole. Ma laila hiki iā ʻoe ke kaʻana like i nā ʻike me nā mākua ʻē aʻe, e nīnau i nā nīnau, a loaʻa ka hōʻoluʻolu.

He aha ke kūlana o ke ola o kekahi kanaka me ka maʻi Kabuki?

ʻO ka wānana a me ke ola o kekahi me ka maʻi Kabuki e pili ana i ke koʻikoʻi o ko lākou kūlana. ʻOiai hiki i ka maʻi ke hoʻopilikia i nā ʻāpana he nui o ke kino, ʻaʻole ia ka hihia mau. ʻO ka mālama ʻana i nā hōʻailona kikoʻī o ke keiki a me ka pale ʻana i nā pilikia ke kī i ka hoʻomaikaʻi ʻana i ko lākou wā e hiki mai ana.

Hiki i nā pākeke me kēia maʻi ke ola i kahi ola maʻamau. Hiki iā lākou ke hana i nā hana o kēlā me kēia lā a hana i nā hana hapa manawa. Eia nō naʻe, pono pinepine lākou i ka mālama kākoʻo. No ka mea he mea kakaikahi loa ke ʻano, ʻaʻole nui ka noiʻi ʻana e pili ana i ka manaʻolana ola o ka poʻe me ka maʻi Kabuki. No laila, ʻoi aku ka maikaʻi o ka nīnau ʻana i ke kauka o kāu keiki e pili ana i ko lākou manaʻolana ola ma muli o ko lākou kūlana kikoʻī.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

Hiki ke hopohopo ke ʻike he maʻi genetic kāu pēpē. Eia nō naʻe, ʻokoʻa loa nā hōʻailona, ​​​​​​ka lāʻau lapaʻau, a me ka wānana o ka maʻi Kabuki mai kēlā kanaka a kēia kanaka. E kamaʻilio me ke kauka o kāu keiki e aʻo hou e pili ana i ke kūlana kikoʻī o kāu keiki. Hiki iā ia ke kōkua iā ʻoe ma kēia huakaʻi. Hiki i nā hui kākoʻo no nā ʻohana i hoʻopilikia ʻia e nā kūlana genetic kakaʻikahi ke lilo i kumu ikaika nui. Hiki iā lākou ke pane i kāu mau nīnau a hāʻawi iā ʻoe i ka manaʻolana no ke kūlana o kāu keiki. Mai manaʻo hoʻokahi. Mai kānalua e kiʻi i ke kōkua āu e pono ai.

`Kabuki Syndrome, Nā Maʻi Hoʻoilina, Nā Maʻi o nā Keiki, Nā Hiʻohiʻona Maka, Nā Pilikia Hoʻomohala, Hoʻomohala Noʻonoʻo, Kabuki Syndrome, Nā Maʻi Kakaikahi