He aha ka Cornelia de Lange Syndrome? E kamaʻilio kākou e pili ana!

Ua hopohopo iki paha ʻoe a hoihoi paha i ka ulu ʻana o kāu keiki liʻiliʻi, a i ʻole kekahi o nā loli liʻiliʻi i ko lākou helehelena? Aia kekahi mau pēpē e ulu iki ana ma mua o nā pēpē ʻē aʻe, a he ʻokoʻa iki paha ko lākou helehelena a me nā lālā. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi loa e makaʻala. Ua kapa ʻia kēia ʻo Cornelia de Lange Syndrome (CdLS).

He aha ka maʻi ʻo Cornelia de Lan (CdLS)?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina laha ʻole kēia. ʻO "Genetic" ke ʻano o kahi mea i hoʻokumu ʻia e kahi loli i loko o kā mākou mau genes. Hoʻololi kēia maʻi i ke ʻano kino o kahi pēpē, ka ulu ʻana o ka noʻonoʻo (e like me ke hiki ke aʻo), a me ke ʻano.

ʻO ka mea nui, ʻaʻole kēia maʻi (CdLS) e hoʻopilikia i nā pēpē āpau ma ke ʻano like. ʻOiai paha he mau hōʻailona iki loa kekahi mau pēpē, he mau hōʻailona koʻikoʻi loa paha kekahi. ʻO ka ʻōlelo pololei, ʻaʻohe pēpē ʻelua me kēia maʻi i like loa. Eia nō naʻe, aia kekahi mau ʻano like maʻamau i ko lākou helehelena a me ke ʻano. Hiki i kēia maʻi ke hoʻopilikia i nā ʻāpana like ʻole o ke kino o ka pēpē. ʻO nā hōʻailona nui i ʻike pinepine ʻia:

• Ka lohi o ka ulu ʻana ma mua a ma hope o ka hānau ʻana. ʻO ke ʻano kēia, hiki i ka pēpē ke emi ke kaumaha a ʻaʻole e ulu ke kiʻekiʻe.
• Nā loli ma ke poʻo a me ka maka. Kāhea nā kauka i kēia mau loli "craniofacial". E kamaʻilio mākou e pili ana i kēia ma hope.
• ʻO kekahi mau kīnā ma nā lima a me nā manamana lima.
• ʻOi aku ka nui o ka lauoho ma ke kino a me ke poʻo ma mua o ka maʻamau. Ua kapa ʻia kēia ʻo "hypertrichosis" a i ʻole "hirsutism".
• Nā kīnā noʻonoʻo.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka maʻi Cornelia de Lann. Loaʻa ia i ka wā hānau. Ma ke ʻano helu, loaʻa ia ma kahi o hoʻokahi i loko o 10,000 mau hānau ola, a i ʻole hoʻokahi i loko o 50,000 mau hānau ola. Eia nō naʻe, manaʻoʻiʻo nā kauka he hiki ke ʻike ʻole ʻia kekahi mau pēpē me kēia maʻi. ʻO kēia no ka mea inā he akahai loa nā hōʻailona, ​​​​hiki ke kuhihewa ʻia lākou no nā kūlana ʻē aʻe. A i ʻole, ʻaʻole paha lākou e ʻike he pili lākou i (CdLS).

He aha nā hōʻailona o ka maʻi Cornelia de Lann?

E like me kā mākou i ʻōlelo ai ma mua, ʻaʻole like ka hopena o kēia maʻi i kēlā me kēia pēpē. Hiki ke ʻokoʻa nā hōʻailona mai kēlā pēpē a i kēia pēpē. Inā loaʻa kēia maʻi i kāu pēpē, e ʻike paha ʻoe i hoʻokahi a ʻoi aku paha o kēia mau hōʻailona.

Nā hiʻohiʻona kūikawā i ʻike ʻia ma ka maka a me ke poʻo

Kāhea mākou i kēia mau mea ʻo `(Nā hiʻohiʻona craniofacial ʻokoʻa)`.

• ʻIke pinepine ʻia ua hui pū ʻia nā maka maka ma waenakonu a piʻo i luna (ua kapa ʻia kēia he `(synophrys)`).
• He lōʻihi loa nā maka maka.
• Ua haʻahaʻa ke kau ʻana o nā pepeiao ma mua o ka maʻamau.
• He liʻiliʻi nā niho a he nui nā hakahaka ma waena o lākou.
• Liʻiliʻi ka ihu a piʻi i luna.
• He poʻo i ʻoi aku ka liʻiliʻi ma mua o ka maʻamau (kapa nā kauka i kēia he "microcephaly").
• Loaʻa kahi palale māwae (ʻaʻole kēia e hana i nā mea āpau, akā hiki i kekahi poʻe).

Nā hiʻohiʻona neurodevelopmental

• Nā lohi o ka ulu ʻana. ʻO ia hoʻi, nā mea e like me ke kolo ʻole ʻana i ka wā kolo, ʻaʻole hele wāwae i ka wā hele wāwae.
• Hiki i nā kānaka he nui ke loaʻa i nā kīnā noʻonoʻo waena a koʻikoʻi paha , ʻo ia hoʻi, he hemahema paha ko lākou i nā mea e like me ke aʻo ʻana a me ka hoʻomaopopo ʻana.

Nā hiʻohiʻona noʻonoʻo

• Hiki iā lākou ke hōʻike i nā ʻano hana like me nā ʻano o "(Autism spectrum disorder)" . Eia kekahi laʻana, ʻaʻole paha lākou makemake e kamaʻilio me nā poʻe ʻē aʻe a hana hou i nā mea like.
• Nā hōʻailona like me nā hōʻailona o kahi maʻi i kapa ʻia ʻo Attention-deficit/hyperactivity disorder (ADHD) .
• Nā maʻi hopohopo.

Nā hiʻohiʻona maʻamau ʻē aʻe i ʻike ʻia

Ma waho aʻe o kēia, hiki i ka maʻi Cornelia de Lann ke hana i nā pilikia ʻē aʻe:

• Lohi ka ulu ʻana ma mua a ma hope o ka hānau ʻana. Hiki i kēia ke kumu i pōkole ai lākou.
• Kekahi mau mea ʻino ma nā lima, nā manamana lima, a me nā iwi o nā lima.
• ʻOi aku ka nui o ka lauoho ma mua o ka maʻamau ma ke kino (hirsutism).
• Ka nalowale o ka lohe.
• Nā pilikia o ka ʻōnaehana hoʻoheheʻe. No ka laʻana, ka reflux waikawa mau (GERD).
• Nā ʻano ʻē o nā ʻōpū. E like me nā testicles i iho ʻole i nā keikikāne (cryptorchidism).
• Ka hemahema o ka ʻike. Eia kekahi laʻana, ka ʻike kokoke (myopia).
• Nā hopu ʻana (kapa mākou iā lākou he 'mau hopu').
• Maʻi puʻuwai. Eia kekahi laʻana, he lua ma ka puʻuwai.

He aha ke kumu o ka maʻi Cornelia de Lan?

ʻO ka maʻamau, hoʻokumu ʻia kēia kūlana e kahi loli ʻino (pathogenic variant) i loko o kekahi o nā ʻehiku genes . ʻO kēia mau genes ʻo NIPBL, SMC1A, HDAC8, RAD21, SMC3, BRD4, a me ANKRD11. I ka hui pū ʻana, kōkua kēia mau genes i kahi mea i kapa ʻia ʻo ka cohesin complex e hana pono.

I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia `(cohesin complex)`. I ka ʻōlelo maʻalahi, he hui kēia o nā protein e pāʻani ana i kahi kuleana koʻikoʻi i ka wā e ulu ana kahi pēpē i loko o ka ʻōpū.ʻO kēia ka mea e kaohi ai i nā genes e pono ai no ka hoʻomohala pono ʻana i nā lālā, ka maka, a me nā ʻāpana ʻē aʻe o ke kino o ka pēpē. No laila, inā he loli i kekahi o nā genes i ʻōlelo ʻia ma mua, e hoʻopilikia ʻia ka hana o kēia `(cohesin complex)`. A laila, e hoʻopilikia ia i ka ulu mua ʻana o ka pēpē.

Ma waena o 60% a me 80% o ka poʻe me `(CdLS)` i loaʻa kēia maʻi ma muli o kahi loli i loko o ka gene `NIPBL`. ʻAʻole paha e hoʻokumu ʻia ke ʻano e nā loli i loko o nā gene ʻeono ʻē aʻe. No kekahi 5% a 20% o ka poʻe, ʻaʻole i ʻike ʻia ke kumu genetic o kēia maʻi.

I ka hapanui o nā hihia, ʻaʻohe moʻolelo ʻohana o nā keiki me kēia maʻi. ʻO ke ʻano kēia , ua hoʻokumu pinepine ʻia e kahi loli genetic hou (i kapa ʻia he `de novo mutation`). Eia nō naʻe, inā loaʻa i kekahi makua nā hōʻailona iki o ke ʻano, loaʻa iā lākou he 50% ka manawa e loaʻa ai kahi keiki me ke ʻano. Pēlā nō, inā loaʻa i nā mākua olakino kahi keiki me `(CdLS)`, ua manaʻo ʻia ka pilikia o ka loaʻa ʻana o kahi keiki ʻē aʻe me ke ʻano ma waena o 1% a me 1.5%.

He aha nā pilikia e hiki ke hana ma muli o kēia ʻano?

Ma muli o ka hoʻopilikia ʻana o ka maʻi Cornelia de Lann i nā ʻāpana like ʻole o ke kino, hiki ke loaʻa nā pilikia like ʻole.

Nā pilikia o ka ʻōnaehana hoʻoheheʻe

• Duodenal atresia: He ālai ʻana i ka ʻāpana mua o ka ʻōpū liʻiliʻi o ke pēpē.
• ʻO ka hernia diaphragmatic congenital: He lua i loko o ka diaphragm o ke pēpē (ka ʻiʻo e hoʻokaʻawale i ka umauma a me ka ʻōpū).
• `(Malrotation)`: He ʻano ʻē i ke ʻano o ka hana ʻana o nā ʻōpū o ke pēpē.
• Pyloric stenosis: Ka hāiki ʻana o ka puka mai ka ʻōpū o ke pēpē a i ka ʻōpū liʻiliʻi.
• ʻO ka hernia inguinal: Kahi ʻāpana o ka ʻōpū o ke pēpē e paʻi ma kahi puka ma ka paia ʻōpū i loko o ka ʻāpana groin.
• ʻO ka esophagus o Barrett: He kūlana e hiki ke hana ma muli o ka GERD koʻikoʻi.

Nā pilikia genitourinary

• Cryptorchidism: ʻO ke ʻano kahi i hāʻule ʻole ai nā testicles o kahi pēpē kāne i loko o ka scrotum ma mua o ka hānau ʻana a i ʻole ma hope koke iho o ka hānau ʻana.
• `(Hypospadias)`: I nā pēpē kāne, ʻaʻole e wehe ka urethra ma kahi kūpono ma ka penis.
• `(Renal hypoplasia)`: ʻOi aku ka liʻiliʻi o kekahi a i ʻole nā ​​​​pūpū ʻelua o ke pēpē ma mua o ka maʻamau.

Nā pilikia maka

• `(Ptosis)`: Hiki ʻole ke wehe pono i ka maka ma muli o ke kulou ʻana o ka lihilihi o luna i lalo.
• Blepharitis: Ka mumū a me ka maʻi o ka lihilihi.
• Nā hemahema o ka ʻike: No ka laʻana, nā kūlana e like me ka `(astigmatism)` (ʻike maka pōwehiwehi ma muli o ke kūlou ʻana o ka papa waho o ka maka).

Pehea e ʻike ʻia ai ka maʻi ʻo Cornelia de Lan?

Hiki paha i ke kauka o kāu pēpē ke ʻike i kēia maʻi ma hope koke iho o ka hānau ʻana a i ʻole ma hope koke iho . E nānā ke kauka i kāu pēpē i ke kino, e loiloi i nā hōʻailona, ​​a e nīnau e pili ana i ka mōʻaukala olakino o kou ʻohana.

Eia nō naʻe, ʻo nā hōʻailona o ke pēpēInā he akahai loa ia, hiki ke paʻakikī ke ʻike i ke kūlana. I ia mau hihia, hiki i ke kauka ke noi i ka hoʻāʻo genetic e hōʻoia i ka hōʻailona.

He mea kākaʻikahi loa, hiki ke ʻike ʻia kēia maʻi ma mua o ka hānau ʻana o ka pēpē. Ua kapa ʻia kēia he hoʻāʻo genetic prenatal . Hiki iā ia ke ʻike i nā hoʻololi genetic e hoʻokumu ai i kēia maʻi.

Pehea e mālama ʻia ai ka maʻi ʻo Cornelia de Lan?

ʻOkoʻa ka lāʻau no kēia maʻi mai kēlā pēpē a kēia pēpē, ma muli o nā hōʻailona i loaʻa i kēlā me kēia pēpē. Ma muli o ka hoʻopilikia ʻana o kēia maʻi i nā ʻāpana he nui o ke kino, e hana pū kahi hui o nā kauka e hoʻolālā i ka lāʻau. Hiki i ka lāʻau ke komo pū me:

ʻO ka meaʻai a me ka hānai ʻana

• Ke hoʻokomo ʻana i kahi ʻōmole gastrostomy e hāʻawi i ka waiū umauma kiʻekiʻe-calorie a me/a i ʻole ka meaʻai e pale ai i ka lohi o ka ulu ʻana o ka pēpē.
• E ʻimi i ka ʻōlelo aʻo mai kahi mea lapaʻau meaʻai e kūkākūkā i nā pilikia ʻai.

ʻoki kino

• Nā ʻano ʻē o ka iwi.
• Nā pilikia o ka ʻōnaehana hoʻoheheʻe.
• Maʻi puʻuwai.
• Lepe māwae.
• Nā testicles i iho ʻole.

Pono paha ke ʻoki kino e mālama i nā kūlana e like me kēia.

Nā lāʻau lapaʻau

• Hoʻomalu a pale paha nā lāʻau anticonvulsant i nā hopu ʻana (convulsions).
• Nā lāʻau antidepressants e kāohi i ka hana hōʻino ponoʻī a i ʻole ka hana hoʻouka kaua.
• Hoʻōla nā antibiotics i nā maʻi hanu.

Hiki ke mālama ʻia kekahi mau maʻi ʻōpū a me ka puʻuwai me ka lāʻau lapaʻau.

Nā lāʻau lapaʻau

Pono e hoʻomau ʻia kēia mau lāʻau lapaʻau i ke ola holoʻokoʻa o ka pēpē. Hiki ke hoʻohana ʻia nā ʻano lapaʻau like ʻole e hoʻoponopono ai i nā lohi o ka ulu ʻana, nā kīnā noʻonoʻo, a me nā pilikia o ke ʻano o ka pēpē. Hiki i kēia mau mea ke komo pū me:

• Hoʻōla kino.
• Hoʻōla hana.
• Hoʻōla ʻōlelo.
• Hoʻōla noʻonoʻo.

Eia kekahi, aia kahi pono no ka loiloi mau a me ka nānā ʻana i kekahi mau hana a me nā lohi o ka ulu ʻana i loko o ke ola o ka pēpē. ʻO kēia kekahi:

• Nā hoʻokolohua lohe a me ka ʻike.
• Ka ulu ʻana a me ka hoʻomohala ʻana o ka psychomotor (hana e like me ka manaʻo o kekahi).
• Hana o ka puʻuwai a me nā puʻupaʻa.
• Ka hana ʻana o ka ʻōnaehana hoʻoheheʻe.

Pono e nānā mau ʻia kēia mau mea e nā kauka.

He aha ke kūlana o ke ola o kekahi kanaka me ka maʻi Cornelia de Lann?

ʻO ke ola o ka poʻe me kēia maʻi he mea maʻamau ia.ʻO ka hapa nui o nā keiki me kēia maʻi e ola maikaʻi a hiki i ka wā makua. Eia nō naʻe, inā loaʻa i ka pēpē kekahi o nā hōʻailona koʻikoʻi o ka maʻi (ʻoi aku hoʻi nā pilikia o ka puʻuwai a me ka ʻāʻī), hiki iā ia ke hoʻopōkole iki i ko lākou ola.

Pono paha nā pākeke me CdLS i ka mālama olakino mau i ko lākou ola a pau. Inā ulu nā pilikia, pili ka prognosis i ke koʻikoʻi a me ka mālama ʻana.

Hiki ke pale ʻia kēia kūlana?

No ka mea he maʻi hoʻoilina ia, ʻaʻole hiki ke pale ʻia ka maʻi Cornelia de Lann. Inā ʻoe e hoʻolālā ana e hāpai a makemake ʻoe e ʻike i kou pilikia o ka loaʻa ʻana o kahi keiki me ke ʻano, e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i ka hoʻoilina a i ʻole ka hoʻāʻo ʻana i ka hoʻoilina .

He mea maʻamau ke hopohopo a me ke kaumaha ke ʻike ʻoe he maʻi genetic kakaikahi ko kāu pēpē. Akā e hoʻomanaʻo, ʻo ka hapa nui o nā keiki me ka maʻi Cornelia de Lann e ola piha ana a ulu maikaʻi a hiki i ka wā makua.

Ke ʻike ʻia ke kūlana o kāu pēpē, e kamaʻilio kāu kauka me ʻoe e pili ana i nā koho lapaʻau like ʻole. Pono paha ʻoe e hana pū me kahi hui o nā loea. ʻO ka mea nui loa, ʻo ia ke aʻo i ka mea hiki iā ʻoe e pili ana i ke kūlana o kāu pēpē a alakaʻi i ka hāʻawi ʻana i ka mālama maikaʻi loa.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

ʻAe, e hōʻuluʻulu kākou i kekahi o nā kumu nui e pono ai ʻoe e hoʻomanaʻo mai nā mea a mākou i kamaʻilio ai:

• He maʻi laha ʻole ka maʻi Cornelia de Lan (CdLS).
• Hiki i kēia ke hoʻopili i ke ʻano o ka pēpē, kona ulu ʻana, kona naʻauao, a me kona ʻano .
• ʻOkoʻa nā hōʻailona mai kēlā pēpē a kēia pēpē ; he akahai kekahi, he koʻikoʻi kekahi.
• ʻO ke kumu he loli i loko o nā genes.
• Aia ka lāʻau lapaʻau i nā hōʻailona o ka pēpē. Hiki ke hoʻohana ʻia nā ʻano lapaʻau like ʻole, me ke ʻoki ʻana inā pono, a me nā lāʻau lapaʻau.
• ʻOiai ʻaʻole hiki ke pale ʻia kēia maʻi, hiki i ke aʻo ʻana i nā genetics ke kōkua iā ʻoe e aʻo e pili ana i kou pilikia.
• ʻO ka ʻike mua ʻana, ka mālama kūpono, a me ka mālama aloha e hiki ke kōkua i kēia mau keiki e ola i nā ola kūpono.

Inā he mau nīnau a hopohopo paha kāu e pili ana i kēia, e kamaʻilio me kāu kauka ʻohana a kauka keiki paha. E hāʻawi lākou iā ʻoe i ke alakaʻi āu e pono ai.

ʻO ka maʻi Cornelia de Lanne, CdLS, nā maʻi genetic, ke olakino o ke keiki, ka lohi o ka ulu ʻana, nā hiʻohiʻona kino, nā maʻi laha ʻole