Ua lohi iki anei kāu keiki liʻiliʻi ma mua o nā keiki ʻē aʻe i ka noho ʻana i luna, kamaʻilio ʻana, a hele wāwae paha? He mea maʻamau i nā mākua ke hopohopo iki a me ka hopohopo ke ʻike lākou i nā mea e like me kēia. Akā, ʻaʻole he pilikia nui nā lohi a pau. Eia nō naʻe, he mea nui e makaʻala i kekahi mau maʻi kakaikahi i hoʻokumu ʻia e nā kumu genetic. No ka laʻana, ʻo Koolen-de Vries Syndrome kahi maʻi a mākou i lohe ʻole ai i kēlā me kēia lā, akā he mea pono ke ʻike. E kamaʻilio maʻalahi kākou e pili ana iā ia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.
He aha ka Koolen-de Vries Syndrome?
I ka ʻōlelo maʻalahi, ʻo Kuhlman-de Vries Syndrome (KdVS) kahi maʻi genetic kakaikahi. Pili ia i nā chromosomes i loko o ko mākou kino. I ka pololei, ua hoʻokumu ʻia e kahi loli liʻiliʻi i loko o kā mākou chromosome helu 17. Hiki i kēia kūlana ke hoʻopaneʻe i ka ulu ʻana , kekahi pae o ke kīnā noʻonoʻo, a me kekahi mau hiʻohiʻona helehelena kikoʻī .
E ʻike mua paha ʻoe i kēia kūlana ke noho kāu keiki ma luna o lākou iho ma hope o nā keiki ʻē aʻe o ko lākou mau makahiki, e ʻōlelo hou i kā lākou mau ʻōlelo mua ma hope, a i ʻole e lōʻihi ka manawa e hana ai i kā lākou mau ʻanuʻu mua. ʻO kekahi inoa no kēia kūlana ʻo '17q21.31 microdeletion syndrome.' ʻOiai paha he paʻakikī iki ka inoa, e nānā pono kākou i kona manaʻo.
ʻO ka mea nui, ʻoiai hiki ke ʻokoʻa kēia mau hōʻailona mai kekahi keiki a i kekahi keiki, he hiʻohiʻona maʻamau ia o kēia ʻano ke ʻoliʻoli pinepine kēia mau keiki a aloha . He mea maikaʻi loa kēlā. Eia nō naʻe, pono lākou i ke kōkua lapaʻau a me ke kākoʻo i ko lākou ola a pau e hoʻokele i kekahi mau hōʻailona hou aʻe.
He aha nā hōʻailona e ʻike ʻia ma kēia ʻano?
ʻOiai ʻokoʻa nā hōʻailona i ʻike ʻia i nā keiki me Kuhlman-de Vries syndrome (KdVS) mai kekahi kanaka a i kekahi, aia kekahi mau hiʻohiʻona maʻamau.
Nā hōʻailona i ʻike pinepine ʻia:
- Ka lohi o ka ulu ʻana: He hōʻailona nui kēia. ʻO ke ʻano kēia, ʻo nā mea e like me ke kolo ʻana, ka noho ʻana i luna, ka hele ʻana, a me ke kamaʻilio ʻana e lohi paha ma mua o nā keiki ʻē aʻe o ka makahiki like.
- Nā kīnā noʻonoʻo iki a kaulike: Pono paha i ka manawa hou aku a me ke kōkua e aʻo a hoʻomaopopo i nā mea hou.
- Ka palupalu o ke kani o nā ʻiʻo (hypotonia): I ka pololei, ʻike ʻia paha he palupalu iki nā ʻiʻo o ke kino a nele i ka paʻa. Hiki i kēia ke paʻakikī i ka hana ʻana i kekahi mau neʻe ʻana.
- ʻO ka maʻi luaʻi cyclic: Hiki i kekahi mau keiki ke loaʻa i ka luaʻi mau no kekahi mau lā me ke kumu ʻole. Hiki ke hana hou ʻia kēia i kēlā me kēia manawa.
ʻO nā hōʻailona ʻē aʻe e ʻike ai kekahi mau keiki:
Ma waho aʻe o kēia mau hōʻailona nui, hiki i kekahi mau keiki ke loaʻa nā pilikia ʻē aʻe.
- Ka pilikia i ka hānai ʻana i nā pēpē: Hiki ke pilikia i ka omo ʻana a me ka moni ʻana i ka meaʻai, ʻoiai i ka wā kamaliʻi.
- Nā pilikia o ka puʻuwai, ka ʻōpū mimi, a i ʻole nā puʻupaʻa: Hiki ke hānau ʻia kekahi mau keiki me kekahi mau kīnā i ka puʻuwai, ka ʻōpū mimi, a i ʻole nā puʻupaʻa.
- Scoliosis: ʻO ke ʻano kahi e piʻo ai ke kuamoʻo i kekahi ʻaoʻao.
- Nā maʻi epilepsy/ Hōʻeha : Hiki ke loaʻa nā maʻi e like me nā maʻi kūpilikiʻi.
- ʻO nā testicles i iho ʻole ʻia: ʻO ia ke ʻano kahi i iho ʻole ai nā testicles o nā keiki kāne mai ka ʻōpū a i loko o ka scrotum.
Ke ʻano a me ke ʻano o ke keiki
ʻIke pinepine ʻia nā keiki me ka Koolen-de Vries Syndrome he poʻe hauʻoli a aloha . He poʻe launa pū lākou. Eia nō naʻe, i kekahi manawa loaʻa paha iā lākou nā kūlana e like me ka Attention-Deficit/Hyperactivity Disorder (ADHD) a i ʻole nā kūlana neurodevelopmental a me nā ʻano e like me ka Autism Spectrum Disorder .
Nā hiʻohiʻona kūikawā i ʻike ʻia ma ka maka o nā keiki me Koolen-de Vries Syndrome
Hiki i nā keiki me kēia maʻi ke loaʻa kekahi mau hiʻohiʻona helehelena kikoʻī. Akā e hoʻomanaʻo, ʻoiai he hoʻokahi a ʻelua paha o kēia mau hiʻohiʻona iā ʻoe, ʻaʻole ia he manaʻo he maʻi kou. Pono e hōʻoia ʻia kēia e ke kauka.
- He helehelena i hoʻolōʻihi ʻia
- Lae nui
- He ihu ʻano pear
- Ka lihilihi ʻana o ka maka (ptosis)
- Nā pepeiao nui e kūlou ana
- ʻO ke ʻano o nā kihi o waho o nā maka e kuhikuhi ana i luna
- He ʻili e uhi ana i nā kihi o loko o nā maka (nā ʻili epicanthal)
ʻAʻole like ke ʻano o kēia mau hōʻailona i kēlā me kēia keiki. Loaʻa paha i kekahi mau keiki kekahi o kēia mau hōʻailona, aʻo kekahi poʻe he emi iki paha.
He aha ke kumu o Koolen-de Vries Syndrome?
I kēia manawa, e nānā kākou i ke kumu o kēia maʻi. Hoʻokumu ʻia ka Koolen-de Vries Syndrome e kahi mutation a i ʻole ka holoi piha ʻana o ka gene `KANSL1` i loaʻa ma ka chromosome 17.
E noʻonoʻo e pili ana i ia mea, aia nā chromosomes i kēlā me kēia cell i loko o ko kākou kino. Lawe kēia mau chromosomes i nā genes e hoʻoholo ai i nā mea āpau mai ko kākou helehelena a hiki i ko kākou mau ʻano. ʻO ka maʻamau, loaʻa iā kākou ʻelua kope o kēlā me kēia chromosome, hoʻokahi mai ko kākou makuahine a hoʻokahi mai ko kākou makuakāne.
Mai nā keiki me Kuhlman-de Vries Syndrome (KdVS)ʻO ka hapa nui (ma kahi o 95%) he kope nalowale o ka gene `KANSL1` ma kā lākou chromosome helu 17. Ua kapa ʻia kēia he `microdeletion` , ʻo ia hoʻi, ua nalowale kahi ʻāpana liʻiliʻi loa o ka gene. ʻO ka hapa liʻiliʻi i koe he gene `KANSL1`, akā he ʻano ʻokoʻa kona e pale ai i ka hana pono ʻana o ka gene.
Ke kuleana o ka gene `KANSL1`
He mea nui loa kēia gene `KANSL1`. No ka mea, hana ia i kahi protein e kōkua i ka hoʻomalu ʻana i ke ʻano o ka hoʻāla ʻia ʻana o nā gene ʻē aʻe. Hana ʻia kēia ma ka hoʻololi ʻana i kahi mea i kapa ʻia ʻo `chromatin` . ʻO `Chromatin` kahi hui pū ʻana o nā protein a me `DNA` . ʻO kēia ka mea e hoʻopili ai i ka `DNA` i loko o nā chromosomes. No laila hiki iā ʻoe ke ʻike i ke koʻikoʻi o ka gene `KANSL1` no ka hoʻomohala kūpono a me ka hana ʻana o nā ʻāpana like ʻole a me nā ʻōnaehana i loko o ko mākou kino.
He maʻi hoʻoilina anei kēia? (Hoʻoilina)
ʻO ka maʻi Cullen-de Vries (KdVS) kahi maʻi i hiki ke hoʻoilina ʻia ma ke ʻano he "autosomal dominant" . I ka ʻōlelo maʻalahi, inā hoʻoilina ke keiki i kēia ʻano hoʻololi genetic mai hoʻokahi makua wale nō, hiki i ke keiki ke loaʻa i kēia maʻi. Hoʻokomo ia i hoʻokahi loli genetic a i ʻole ka holoi ʻana i kēlā me kēia cell.
Eia nō naʻe, ʻaʻole ia he mea i hoʻoilina ʻia mai nā mākua mai i nā manawa a pau. I kekahi mau hihia, hiki ke loaʻa koke ke ʻano, de novo. ʻO ke ʻano kēia, ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano ma mua, a hiki ke loli ka hoʻoilina no ka manawa mua i ka wā o ka ulu ʻana o nā hunaola hānau o ke keiki, a i ʻole i nā wā mua o ka embryo. No laila, hiki i ke keiki ke loaʻa iā ia inā ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano.
Pehea e ʻike ai nā kauka i kēia maʻi?
Inā kānalua ʻoe ua loaʻa i kāu keiki kēia maʻi, ʻo ka mea mua a ke kauka e hana ai, ʻo ia ke nānā pono i kāu keiki a nīnau iā ʻoe e pili ana i nā hōʻailona. E kōkua kēia iā ʻoe e hoʻomaopopo maikaʻi i ka ulu ʻana a me ke ʻano o kāu keiki.
A laila, no ka hōʻoia paʻa ʻana i kēia kūlana, pono ka hoʻāʻo ʻana i ka genetic. Ma muli o ke ʻano o ka loli genetic, hiki ke ʻokoʻa ke ʻano o ka hoʻāʻo ʻana i hana ʻia.
- Chromosomal microarray: Hiki i kēia hoʻāʻo ke ʻike inā ua nalowale kahi ʻāpana o kahi chromosome. Kōkua kēia i ka ʻike ʻana i ka 'microdeletion' a mākou i kamaʻilio ai ma mua.
- Ka hoʻokaʻina ʻana o nā gene: Hiki i kēia ke ʻike i nā ʻokoʻa liʻiliʻi i loko o ka gene KANSL1 ponoʻī.
No ka mea, ʻaʻole like nā hōʻailona o nā keiki a pau me ka maʻi Kuhlman-de Vries (KdVS), hiki i nā kauka ke ʻōlelo aku i nā hoʻokolohua hou aʻe e hoʻomaopopo maikaʻi i ke kūlana o ke keiki. Eia kekahi laʻana:
- Loiloi hoʻomohala: Loiloi kēia i ka pae hoʻomohala a me nā mākau o ke keiki.
- Echocardiogram: Nānā i ka hana a me ke ʻano o ka puʻuwai.
- Loiloi hānai: E nānā kēia i nā pilikia me ka ʻai ʻana a me ka inu ʻana paha.
- ʻO ke ultrasound o nā puʻupaʻa: Nānā i nā pilikia me nā puʻupaʻa.
- ʻO ke kiʻi Magnetic Resonance Imaging (MRI): Lawe i nā kiʻi kikoʻī o nā ʻōpū o loko, e like me ka lolo.
- Nā kukuna X: No ka nānā ʻana i nā pilikia me nā iwi, e like me ka scoliosis.
ʻAʻole pono nā kānaka a pau e hana i kēia mau hoʻokolohua a pau. Hoʻoholo nā kauka i nā hoʻokolohua e hana ai ma muli o nā hōʻailona a me nā pono o ke keiki.
He aha nā lāʻau lapaʻau no Koolen-de Vries Syndrome?
ʻAʻohe lāʻau lapaʻau no ka Koolen-de Vries Syndrome i kēia manawa. ʻO kēia no ka mea he maʻi hoʻoilina ia. Eia nō naʻe, aia nā ʻano lapaʻau like ʻole a me nā koho hoʻokele e hiki ke kōkua i kahi keiki e hoʻokele i kā lākou mau hōʻailona, hoʻomaikaʻi i ko lākou ʻano ola, a kōkua iā lākou e hoʻomohala i ko lākou hiki piha. Hoʻopilikino ʻia kēia mau lāʻau lapaʻau i nā pono o ke keiki.
Nā lāʻau lapaʻau
Hoʻomaopopo pinepine nā kauka i kekahi mau ʻano ʻano lapaʻau like ʻole:
- Hoʻōla hana: Kōkua kēia i ke keiki e hoʻomohala i nā mākau kaʻa maikaʻi (e.g., ke pihi ʻana, ke kākau ʻana) a me nā mākau kaʻa nui (e.g., ka holo ʻana a me ka lele ʻana) e pono ai e hana i nā hana o kēlā me kēia lā.
- Hoʻōla kino: Kōkua ka mea hoʻōla kino i ka hoʻoikaika ʻana i nā ʻiʻo o ke keiki, hoʻomaikaʻi i ke kaulike, a hoʻomaʻamaʻa i nā neʻe e like me ka hele wāwae. He mea nui loa kēia no nā keiki me ke ʻano i kapa ʻia ʻo "hypotonia."
- Hoʻōla ʻōlelo: Kōkua kēia i ka lanakila ʻana i nā pilikia i ka ʻōlelo ʻana a me ka hōʻike ʻana i nā manaʻo. Hoʻohana nā mea hoʻōla ʻōlelo i nā ʻano hana like ʻole e like me nā kiʻi, ka ʻōlelo lima, a me nā mea hana ʻōlelo.
Nā lāʻau lapaʻau a me nā hana komo ʻē aʻe
Ma muli o nā hōʻailona o ke keiki, pono paha nā lāʻau lapaʻau hou aʻe:
- Lāʻau lapaʻau antiseizure: Pono e hāʻawi ʻia i nā keiki i loaʻa i nā hopu ʻana i ka lāʻau e kāohi iā lākou.
- Ke kau ʻana o kahi ʻōmole hānai no nā pilikia meaʻai: ʻO nā keiki i pilikia i ka moni ʻana a i ʻole ka omo ʻana i ka meaʻai a me ka mea inu, pono paha lākou e hoʻokomo ʻia kahi ʻōmole hānai ma ka ihu a i ʻole ka ʻōpū pololei i loko o ka ʻōpū e hāʻawi i ka meaʻai e pono ai.
- ʻOki: Pono paha ke ʻoki no nā kūlana e like me ka scoliosis a i ʻole nā testicles i iho ʻole.
Ke aʻo ʻana a me ke kākoʻo
Pono paha nā keiki i nā pae kākoʻo like ʻole i ka wā e pili ana i ke aʻo ʻana. Hana maikaʻi kekahi mau keiki ma nā kula maʻamau, aʻo kekahi poʻe e pono ai ke kōkua hoʻonaʻauao kūikawā . He mea nui loa ka hoʻokumu ʻana i kahi ʻano aʻo e kūpono i nā hiki a me nā pono o ke keiki.
He aha ke kūlana o ke ola no nā kānaka me ka Koolen-de Vries Syndrome?
ʻAʻole hiki i nā kānaka noiʻi ke ʻōlelo maopopo i ke ola o ka poʻe me kēia maʻi. No ka mea he mea kakaikahi loa ia, he kakaikahi nā haʻawina lōʻihi e pili ana i ia mea. Eia nō naʻe, ma muli o ka ʻike o kēia manawa, manaʻo nui ʻia e ola ka poʻe me kēia maʻi a hiki i ka wā makua .
He aha kaʻu e manaʻo ai inā loaʻa i kaʻu keiki ka maʻi Kuhl-de Vries (KdVS)?
Hiki ke ʻokoʻa loa ke ola o nā keiki me ka Koolen-de Vries Syndrome ma muli o ke koʻikoʻi o kā lākou mau hōʻailona. Pono paha kāu keiki e ʻike i nā kauka like ʻole a hele pinepine i nā keʻena lapaʻau. ʻO ka lāʻau lapaʻau a me ka lāʻau lapaʻau paha kekahi ʻāpana nui o ko lākou ola. Eia kekahi, ʻaʻole pono paha kekahi mau keiki me ke ʻano e ʻike i nā kauka a loaʻa paha ka lāʻau lapaʻau e like me nā poʻe ʻē aʻe.
ʻO ka mea nui loa, ʻo ia ke hoʻomanaʻo ʻaʻole ʻoe hoʻokahi. Aia nā kauka a me nā mea hoʻōla o kāu keiki me ʻoe i kēlā me kēia ʻanuʻu o ke ala.
Hiki iā ʻoe ke kōkua i kāu keiki e loaʻa ke kākoʻo e pono ai lākou ma ke kula. Hiki i kēia ke komo pū me nā papa kūikawā a i ʻole ke kumu aʻo . E kamaʻilio me nā kumu a kāu keiki a me nā luna kula e kōkua iā lākou e loaʻa nā kumuwaiwai e pono ai lākou. No ka laʻana, inā he pilikia ka ʻōlelo a kāu keiki, e hōʻoia e hana pū lākou me kahi mea lapaʻau ʻōlelo.
He mea paʻakikī pinepine i nā pākeke me Kuhlman-de Vries Syndrome (KdVS) ke noho kūʻokoʻa. He mea kēia e pono e loiloi pū ʻia me ko lākou poʻe mālama a me nā kauka, ma muli o ke kūlana o kēlā me kēia kanaka.
Ke ʻike ʻoe ua loaʻa i kāu keiki ka Kuhlman-de Vries Syndrome (KdVS), he mea maʻamau ke manaʻo i nā ʻano manaʻo like ʻole, me ke kaumaha, ka hopohopo, a me ka huhū paha. ʻAʻole maʻalahi ka hoʻoponopono ʻana i kēlā mau manaʻo. Akā, makemake wau e hoʻomanaʻo iā ʻoe ʻaʻole ʻoe hoʻokahi. E kōkua nā kauka, nā kahu maʻi, a me nā mea hoʻōla o kāu keiki iā ʻoe ma kēia huakaʻi. Mai ka hōʻailona a hiki i ka lāʻau lapaʻau, ua kūpaʻa lākou e kōkua iā ʻoe e hoʻokele i ke kūlana o kāu keiki a kōkua i kāu keiki e ola i kahi ola maikaʻi aʻe.
ʻO ka mea hope loa, leka lawe i ka home
- He maʻi laha ʻole ka Koolen-de Vries Syndrome. Hoʻokumu ʻia ia e kahi mutation i loko o ka gene `KANSL1` ma ka chromosome 17.
- ʻO ka lohi o ka ulu ʻana, nā kīnā noʻonoʻo, a me nā hiʻohiʻona helehelena ʻokoʻa kekahi o nā hōʻailona nui o kēia maʻi.
- He ʻoliʻoli a aloha pinepine kēia mau keiki.
- ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā, aia nā ʻano lapaʻau like ʻole e hoʻokele i nā hōʻailona a hoʻomaikaʻi i ka maikaʻi o ke ola .
- He mea nui loa ka ʻike mua ʻana a me ke kōkua e pono ai no ka ulu ʻana o ke keiki.
- Inā loaʻa kēia maʻi i kāu keiki, ʻo ka mea nui e hahai i nā ʻōlelo aʻoaʻo lapaʻau, hāʻawi i ka lāʻau lapaʻau e pono ai, a hāʻawi i kāu keiki i ke aloha a me ke kākoʻo nui .
- ʻO ke komo ʻana i nā hui kākoʻo no nā mākua o nā keiki me kēia mau kūlana hiki ke lilo i kumu ikaika nui. Mai kānalua e nīnau i kāu mau kauka e pili ana i kāu mau nīnau a me nā hopohopo.
Lana ko mākou manaʻo ua kōkua kēia ʻike iā ʻoe e hoʻomaopopo i ke ʻano o Koolen-de Vries Syndrome.
👩🏽⚕️ Nā nīnau hou aku (FAQs)
💬 He lāʻau lapaʻau anei ka mineralocorticoid i loko o ko kākou kino?
ʻAʻole! He 'hui koʻikoʻi loa kēia o nā hormones' i hana ʻia e ka adrenal gland ma luna o nā puʻupaʻa. ʻO ka hormone nui a kaulana loa o kēia ʻo 'Aldosterone'. ʻO kēia hormone ka mea e kaulike ai i ka nui o ka paʻakai a me ka wai i loko o kou kino a hoʻokō i ka hana holoʻokoʻa o ka mālama ʻana i kāu 'Blood Pressure' ma ka pae kūpono (120/80).
💬 He aha ka mea e hana ʻia i ke koko inā e emi/piʻi kēia hormone?
Inā piʻi kēia hormone, pale ia i ka wai a me ka paʻakai (sodium) o ke kino mai ka hoʻokuʻu ʻia ʻana, e piʻi ai ke koko i kahi e hōʻiliʻili ai ka wai a pohā nā aʻa koko (hypertension). Eia naʻe, inā emi kēia hormone aldosterone, hele pū ka wai a me ka paʻakai i loko o ke kino me ka mimi, no laila e emi ke koko, a hiki iā ʻoe ke maule a hiolo.
💬 No laila he aha nā lāʻau lapaʻau e hāʻawi ai i nā kānaka e hoʻohaʻahaʻa i ko lākou koko koko weliweli?
No ka poʻe me ke koko kiʻekiʻe loa (inā ʻaʻole hiki i nā pila ʻē aʻe ke kāohi iā ia), ua ʻōlelo kūikawā ʻia kahi pila i kapa ʻia ʻo Spironolactone (Aldactone)! He lāʻau lapaʻau kēia i loko o ka papa 'Mineralocorticoid receptor antagonist'. Hoʻopale ia i kēlā hormone mai ka hana ʻana, hoʻopau i ka paʻakai a me ka wai keu i loko o ke kino ma o ka mimi, a kāohi maikaʻi loa i ke kaomi.
ʻO Cullen-De Vries Syndrome, Nā Maʻi Hoʻoilina, Ka Lohi o ka Ulu ʻana, Ke kīnā o ka Noʻonoʻo, KANSL1 Gene, Chromosome 17, Ola Kino o ke Keiki
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