Ke pilikia nei ʻoe me kou mau lima a me kou puʻuwai? Malia paha he Holt-Oram Syndrome ia!

I kekahi manawa loaʻa iā kākou nā maʻi i hiki ʻole iā kākou ke noʻonoʻo, ʻeā? I kēia lā e kamaʻilio kākou e pili ana i kahi maʻi i laha iki, akā he mea kūpono loa ia e ʻike. Inā he mau pilikia kou me kou puʻuwai me kahi ʻano ʻē ma kou lima, pulima lima a lima paha, a laila ʻo ke kumu paha ʻo 'Holt-Oram Syndrome'. Mai hopohopo, e kamaʻilio kākou e pili ana i kēia me nā kikoʻī.

He aha ka Holt-Oram Syndrome?

I ka ʻōlelo maʻalahi, he maʻi hānau kakaʻikahi loa ka maʻi Holt-Oram. Hoʻopilikia nui ia i nā iwi o kou mau lima, nā pulima lima, a me nā lima, a me kou puʻuwai. E noʻonoʻo, loaʻa paha i kekahi poʻe kekahi mau ʻano ʻē i nā iwi o kekahi lima. Aia paha ma kekahi ʻaoʻao wale nō, a i ʻole ma nā ʻaoʻao ʻelua. Loaʻa paha i kekahi poʻe kahi manamana lima, a i ʻole e like ka lōʻihi o ko lākou manamana nui me nā manamana lima ʻē aʻe. ʻAʻole wale ia, hiki ke hele mai me nā pilikia puʻuwai. Hiki i kēia mau maʻi puʻuwai ke kīnā i ke ʻano o ka puʻuwai, a i ʻole he mau hewa paha i nā impulses uila e kaohi ana i ka puʻuwai. Ua kapa ʻia kēia ʻano ma kekahi mau inoa ʻē aʻe, no ka laʻana (Atrio-digital dysplasia), (Cardiac-limb syndrome), a i ʻole (Heart-hand syndrome, type 1). Akā ʻo ka inoa i hoʻohana nui ʻia ʻo Holt-Oram Syndrome.

He aha nā hōʻailona o kēia maʻi?

Hiki ke ʻokoʻa nā hōʻailona o ka Holt-Oram Syndrome mai kēlā kanaka a kēia kanaka . No kekahi poʻe, ʻaʻole paha e maopopo loa kēia mau hōʻailona e ʻike ʻia. I ia mau hihia, hiki i nā kauka ke ʻike pololei iā lākou me nā hoʻokolohua kūikawā e like me nā hoʻokolohua (X-ray), (CT scan) (CT scan) a i ʻole (MRI) (MRI).

Nā pilikia e pili ana i ka iwi (nā lima, nā lima)

Inā loaʻa iā ʻoe ka maʻi Holt-Oram, ʻaʻole paha i ulu pono kekahi o kou mau iwi pulima . Eia kekahi, loaʻa paha iā ʻoe nā pilikia iwi ʻē aʻe, e like me:

• Nā mea ʻē aʻe ma ka iwi ʻāʻī a i ʻole nā ​​ʻūhā poʻohiwi.
• He lima māhele. Me he mea lā ua hui pū ʻia nā manamana lima.
• ʻAʻole hiki ke hoʻolōʻihi a hoʻohuli paha i ka lima i hoʻopilikia ʻia.
• Ke kūlou ʻana o ke kuamoʻo, e like me ke kūlou ʻana (kyphosis) a i ʻole ke kūlou ʻana o ke kuamoʻo ma ka ʻaoʻao (scoliosis).
• ʻO ka nele o ka manamana wāwae nui, a i ʻole ka lōʻihi o ka manamana wāwae nui ma mua o nā manamana wāwae ʻē aʻe a ʻokoʻa ke kūlana.
• Ke alo ʻana o kekahi mau iwi wale nō ma ka lima poʻohiwi a i ʻole ka nele o kekahi mau iwi.
• Ka ulu pono ʻole ʻana o nā iwi o luna o ka lima.

E noʻonoʻo, i ka wā e hānau ai kahi keiki liʻiliʻi, ʻaʻohe ona manamana nui ma kekahi lima, a i ʻole he ʻokoʻa ia mai nā manamana lima ʻē aʻe. A i ʻole he paʻakikī ke kulou pono i ka lima. Eia kekahi o nā pilikia iwi a mākou e kamaʻilio nei.

Nā pilikia o ka puʻuwai

Me ka maʻi Holt-OramHe nui ka poʻe i loaʻa i kekahi ʻano maʻi puʻuwai. ʻO ka mea maʻamau o kēia mau mea he lua i loko o ka paia e hoʻokaʻawale ana i ka ʻaoʻao hema a me ka ʻākau o ka puʻuwai, i kapa ʻia ʻo ka septum. ʻElua ʻano lua:

• ʻO ke kīnā septal atrial: Aia kēia ma waena o nā keʻena ʻelua o luna o ka puʻuwai (atria).
• ʻO ke kīnā septal ventricular: Aia kēia ma waena o nā keʻena ʻelua (ventricles) ma lalo o ka puʻuwai.

I ka ʻōlelo maʻalahi, he ʻehā keʻena o ka puʻuwai. ʻElua ma luna a ʻelua ma lalo. ʻO ka mea e hana ʻia ma ʻaneʻi, ʻo ia ka hana ʻana o nā lua ma nā paia ma waena o kēia mau keʻena. ʻOkoʻa nā hōʻailona ma muli o ka nui o kēia mau lua.

Hiki i kekahi poʻe ke loaʻa i ka maʻi hoʻokele puʻuwai. Hoʻopilikia kēia i nā impulses uila e kāohi ana i ke ʻano o ka puʻuwai. Hiki i kēia ke hana i kahi puʻuwai lohi ʻē aʻe (bradycardia) a i ʻole ka puʻuwai wikiwiki a kūpono ʻole (atrial fibrillation). Hiki ke loaʻa kēia ʻano i ka wā hānau a i ʻole e ulu aʻe i ka hala ʻana o ka manawa. No laila he mea nui i kāu hui lapaʻau e nānā i kēia i kou ola a pau.

ʻO ka maʻi puʻuwai e pili ana me ka maʻi Holt-Oram hiki ke hana i nā hōʻailona e like me:

• Ka holomua ʻole.
• Luhi nui, māluhiluhi.
• Ke koko kiʻekiʻe i loko o nā māmā (pulmonary hypertension).
• Pōkole o ka hanu.
• Pōkole o ka hanu.

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No ke aha e kū mai ai ka Holt-Oram Syndrome?

I ka hapanui o nā hihia, ʻo ke kumu nui o ka maʻi Holt-Oram he loli, a i ʻole mutation, i loko o kahi gene i kapa ʻia ʻo TBX5 . Hoʻopuka kēia gene TBX5 i kahi protein e pono ai no ka ulu ʻana o nā lālā o luna (nā lima, nā lima) i ka wā o ka ulu ʻana o kahi fetus. Eia kekahi, he mea nui kēia protein no ke kaʻina hana o ka māhele ʻana i ka puʻuwai i ʻehā mau keʻena. I mea e pololei ai, ua hoʻomalu ʻia nā mea āpau i loko o ko mākou kino e nā genes. No laila, kū mai kēia mau pilikia ke loaʻa kahi loli i kēia gene kikoʻī.

Hiki ke hoʻoili ʻia kēia hoʻololi ʻana o ka gene TBX5 mai kēlā hanauna a i kēia hanauna (hoʻoilina) . ʻO ia hoʻi, inā loaʻa i ka makuahine a i ʻole ka makuakāne kēia maʻi, aia kahi manawa e loaʻa pū ai i ke keiki. Eia nō naʻe, i ka hapanui o nā hihia, hiki mai kēia maʻi ke hana ʻia kahi hoʻololi ʻana o ka gene hou me ka ʻole o kekahi o ka ʻohana i loaʻa i ka maʻi ma mua . ʻO ia hoʻi, hiki ke hana me ka ʻole o ka mōʻaukala ʻohana.

Eia nō naʻe, i kekahi manawa, ʻaʻole hiki i ka poʻe me ka maʻi Holt-Oram ke loaʻa ka mutation i loko o ka gene TBX5. ʻAʻole maopopo loa i nā kānaka ʻepekema pehea e ulu ai ka maʻi i kēia poʻe. Manaʻo lākou he kumu paha ia o nā mutations i loko o nā protein ʻē aʻe e hana pū me TBX5.

Pehea e ʻike pololei ʻia ai kēia maʻi? (Diagnosis)

Hiki i ke kauka ke kānalua i ka maʻi Holt-Oram ma hope o ka hoʻokolokolo kino a me ka mōʻaukala ʻohana. A laila, hiki iā lākou ke hana i kekahi mau hoʻokolohua e hōʻoia i ke kūlana, e like me:

• Kiʻi lapaʻau: Nā mea e like me nā X-ray o kou mau lima, nā pulima lima, a me nā lima.
• Echocardiogram - echo): Lawe kēia i nā kiʻi o ka puʻuwai e ʻike inā he mau pilikia me kona ʻano a i ʻole ka hana pumping. Ua like ia me kahi scan ultrasound o ka puʻuwai.
• Electrocardiogram (ECG a i ʻole EKG): Ke ana kēia i ka hana uila o kou puʻuwai. ʻO ke ʻano kēia o ka nānā ʻana i ka rhythm a me ka wikiwiki o ka kuʻi ʻana o kou puʻuwai.
• Hoʻāʻo ʻana i ka hoʻoilina: Hana ʻia kēia hoʻāʻo e hōʻoia inā loaʻa kahi hoʻololi hoʻoilina. Hana pinepine ʻia kēia ma ka lawe ʻana i kahi hāpana koko.

Ua ʻike ʻia kekahi poʻe me ka maʻi Holt-Oram i ko lākou wā kamaliʻi . Ua ʻike ʻia kekahi poʻe ma hope o ke ola . Hiki ke hana ʻia kēia ke loaʻa iā lākou nā hōʻailona o ka puʻuwai a i ʻole ke ʻike ʻia kahi ʻano ʻē o ka iwi i ka wā o kahi hoʻokolohua lapaʻau ʻē aʻe. No ka laʻana, hiki i kekahi kanaka ke hele i ke kauka me ka pōkole o ka hanu a ʻike koke i kahi lua i loko o ko lākou puʻuwai a i ʻole kahi ʻano ʻē o ka iwi ma ko lākou lima.

Aia kekahi lāʻau lapaʻau no kēia? (Lāʻau lapaʻau)

ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka Holt-Oram Syndrome i kēia manawa . Eia nō naʻe, pili ka lāʻau lapaʻau i nā hōʻailona āu e loaʻa ai a me ke koʻikoʻi o lākou. Mai hopohopo, he nui nā mea hiki iā ʻoe ke hana e hoʻokele i kāu mau hōʻailona a hoʻomaʻalahi i kou ola.

Loaʻa i kekahi poʻe nā hōʻailona palupalu loa a ʻaʻole pono i kekahi lāʻau lapaʻau kūikawā. Akā, pono i kekahi poʻe ka nui o ka mālama ʻana a me ka mālama ʻana . ʻO nā pahuhopu nui o ka lāʻau lapaʻau, ʻo ia ka hoʻihoʻi ʻana i ka nui o ka hoʻohana ʻana o ka lima a me ka lima i ka hiki a me ka pale ʻana i nā pilikia e hiki mai ana i loko o ka puʻuwai.

Hiki ke komo pū me kēia mau mea i ka lāʻau lapaʻau:

• ʻO nā lāʻau lapaʻau antiarrhythmic nā lāʻau lapaʻau e kaohi i ka helu o ka puʻuwai a me ke ʻano o ka puʻuwai.
• Ke hoʻokomo ʻana o kahi mea lapaʻau, e like me ka pacemaker, e kaohi i ka helu o ka puʻuwai a me ke ʻano o ka naʻau.
• ʻO ke ʻoki kino e hoʻoponopono ai i kahi lua ma ka puʻuwai.
• E hoʻoponopono i nā pilikia o ka iwi ma ke kau ʻana i nā pale lima a i ʻole ke ʻoki ʻana.
• Ke kau ʻana i nā ʻāpana hana (prosthetics) e pani i nā ʻāpana i nalowale o ka lima a i ʻole ka lima.

Pono paha ke kanaka me kēia maʻi i ke kōkua o nā loea he nui. ʻO ke ʻano kēia, hāʻawi ʻia ka lāʻau lapaʻau e kahi hui, ʻaʻole hoʻokahi kauka wale nō. Hiki i kēia hui ke komo pū me:

• Nā kauka cardiologists a me nā kauka lapaʻau cardiac: Nā loea i nā maʻi puʻuwai.
• Nā kauka ʻoki kino: Nā loea i nā maʻi iwi .
• Nā Kauka Lapaʻau: Nā kauka e mālama ana i nā maʻi i nā keiki.
• Nā mea hoʻōla hana: ʻO ka poʻe e kōkua i nā kānaka e hana i nā hana o kēlā me kēia lā e like me ka ʻai ʻana a me ke kākau ʻana me ka maʻalahi.
• Nā mea hoʻōla kino: ʻO ka poʻe e kōkua i ka hoʻoikaika ʻana i nā ʻāpana kino i loaʻa nā ʻano ʻē a hoʻomaikaʻi i kā lākou hana.

ʻĀnō e nānā, me ke kōkua o kēia poʻe a pau, loaʻa i ka mea maʻi ke kākoʻo e pono ai lākou e ola i ke ola maikaʻi loa.

Pehea lā ke ʻano o ke ola me kēia kūlana? (Nānā/Wānana)

He ʻokoʻa loa ka wānana no ka poʻe me ka Holt-Oram Syndrome . ʻO ia hoʻi, ʻaʻole like nā kānaka a pau. He mau ʻano ʻē iki wale nō ko kekahi poʻe ma ko lākou mau pulima a hiki iā lākou ke hana maʻamau me ka ʻole o nā palena kino. Akā, he mau pilikia nui paha ko kekahi poʻe i ka iwi .

Eia nō naʻe, ma kahi o 75% o ka poʻe me kēia maʻi he kīnā kūkulu hānau i loko o ka puʻuwai . ʻAʻohe o kekahi poʻe i nā hōʻailona a pono wale lākou e ʻike i kahi kauka puʻuwai no ka nānā ʻana. Eia nō naʻe, hiki i kekahi mau kīnā o ka puʻuwai ke hoʻoweliweli i ke ola a pono ke ʻoki ʻana. No laila he mea nui loa ia e hahai pololei i nā ʻōlelo a kāu kauka.

Hiki ke pale ʻia kēia?

ʻO ka maʻamau, hoʻokumu ʻia ka Holt-Oram Syndrome e kahi mutation genetic, no laila ʻaʻole hiki ke pale loa ʻia . Inā loaʻa iā ʻoe ke ʻano a hāpai, loaʻa i kāu keiki ma kahi o 50% ka manawa e hoʻoili ai i ka mutation . ʻO ke ʻano kēia, ma kahi o hoʻokahi i loko o ʻelua mau keiki e loaʻa i ke ʻano. Eia nō naʻe, hiki i ka hoʻāʻo genetic prenatal ke ʻike i ka mutation. Hiki i kāu kauka ke paipai i ka ʻōlelo aʻoaʻo genetic no kou ʻohana pili. E kōkua kēia i ka hoʻonaʻauao ʻana i nā ʻohana ʻē aʻe e pili ana i ke ʻano a alakaʻi iā lākou e hoʻāʻo ʻia inā pono.

Pehea mākou e hoʻomaʻamaʻa ai ma ke ʻano he ʻohana i kēia kūlana?

Ke loaʻa nā loli kino i ke ʻano, ʻoiai hoʻi i nā keiki, hiki iā lākou ke hilahila a me ka haʻahaʻa o ka manaʻo ponoʻī . Hiki iā ia ke hoʻopilikia i kā lākou pilina pili kanaka. Eia kekahi mau mea hiki iā ʻoe ke hana e kōkua i ka manawa e like me kēia:

• E ʻike i kahi loea olakino noʻonoʻo : Hiki i kāu keiki ke loaʻa ke kōkua e hoʻomaopopo a mālama i ko lākou mau manaʻo.
• E kamaʻilio ākea me kāu keiki e pili ana i ke kūlana: E wehewehe iā lākou ma nā ʻōlelo maʻalahi, ma ke ʻano e hiki ai iā lākou ke hoʻomaopopo. E ʻōlelo i nā mea e like me, "He ʻokoʻa iki kou lima, he mea ia i hānau ʻia me ʻoe, a ʻaʻole na ʻoe ia hewa."
• E hoʻomaopopo i ka poʻe e pili ana ke keiki: E haʻi i nā kumu, nā hoaaloha, a me nā ʻohana e pili ana i ke kūlana i hiki iā lākou ke kākoʻo i ke keiki.
• E hui pū me kahi hui kākoʻo a i ʻole kahi hui kākoʻo aupuni: E kōkua kēia iā ʻoe e hālāwai me nā ʻohana ʻē aʻe e hele nei i ka mea like me ʻoe a kaʻana like i kāu mau ʻike.
• E hōʻoia i loaʻa i kāu keiki kahi hoʻolālā ma ke kula e kākoʻo iā lākou e aʻo a e launa pū me lākou, me ka ʻole o ka hoʻoweliweli: E kamaʻilio me nā kumu a e hōʻoia i kēia.
• E hoʻomaʻamaʻa i ka pane ʻana i nā nīnau ke nīnau mai kekahi iā ʻoe e pili ana i kēia: Eia kekahi laʻana, hiki iā ʻoe ke hoʻomaʻamaʻa i ka hāʻawi ʻana i kahi pane maʻalahi e like me, "Ua hānau ʻia au me ka iwi pulima ʻokoʻa ma mua o nā mea ʻē aʻe."

ʻO ka maʻi Holt-Oram kahi maʻi e hoʻoulu ai i nā ʻano ʻē o ka iwi ma nā lima, nā pulima lima, a me nā lima, a me ka maʻi puʻuwai. Inā loaʻa i kāu keiki kēia maʻi, hiki i nā kauka ke hāʻawi i nā ala e hoʻomaikaʻi ai i ka hana o kona mau lima a me nā lima . Hiki iā lākou ke nānā i nā lālā ʻē aʻe o ka ʻohana e kōkua i ka pale ʻana i nā pilikia mai nā kīnā o ka puʻuwai.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He maʻi paʻakikī a laha ʻole ka Holt-Oram Syndrome. Eia nō naʻe, he mea nui e makaʻala i ia mea, ʻoiai inā he pilikia lima a puʻuwai paha ko kekahi o kou ʻohana . E hoʻomanaʻo, ʻo ka mua o kou ʻike ʻana i kēia maʻi, ʻoi aku ka maʻalahi o ka loaʻa ʻana o ka lāʻau a me ke kākoʻo e pono ai ʻoe e hoʻoponopono iā ia.

Mai manaʻo hoʻokahi. Me ke kōkua o nā kauka, nā mea hoʻōla, a me nā hui kākoʻo, hiki iā ʻoe ke kūleʻa i kēia kūlana. ʻO ka mea nui, ʻo ia ka hahai ʻana i nā ʻōlelo aʻoaʻo lapaʻau kūpono a mālama i kahi ʻano maikaʻi.

Inā he mau nīnau hou aku kāu e pili ana i kēia, mai kānalua e kamaʻilio me kāu kauka. E hāʻawi lākou iā ʻoe i ka ʻike āpau āu e pono ai.

ʻO ka Holt-Oram Syndrome, nā ʻano lima ʻē, ka maʻi puʻuwai, nā hoʻololi genetic, nā kīnā hānau, nā pilikia iwi