He aha ka Turner Syndrome? E aʻo kākou e pili ana i kēia maʻi e hoʻopilikia nei i nā kaikamahine

Ma ke ʻano he makuahine a makua paha, ʻo kāu moeʻuhane nui loa ka ʻike ʻana i kāu keiki olakino a hauʻoli. Akā i kekahi manawa, hiki i nā keiki ke loaʻa nā pilikia olakino i manaʻo ʻole ʻia e kekahi o mākou. ʻO Turner Syndrome kekahi ʻano maʻi genetic kakaʻikahi e pili wale ana i nā kaikamahine. E makaʻu paha ʻoe ke lohe ʻoe i kēia inoa. Akā, mai hopohopo. E kamaʻilio kākou e pili ana i nā mea āpau me ka maʻalahi a me ka maopopo.

I ka ʻōlelo maʻalahi, he aha ka Turner Syndrome?

ʻAʻole kēia he maʻi lele, ʻaʻole hoʻi he mea āu i hana hewa ai. He maʻi hoʻoilina maoli kēia.

E noʻonoʻo ua hana ʻia ko kākou kino me nā miliona o nā keena liʻiliʻi. Aia i loko o ka nucleus o kēlā me kēia keena nā mea i kapa ʻia ʻo "chromosomes" e hoʻoholo ai i ka hoʻolālā holoʻokoʻa o ko kākou kino, me ke kala o ka lauoho, ke kala o nā maka, a me ke kiʻekiʻe. ʻO ka maʻamau, he ʻelua chromosomes 'X' (XX) ko ka wahine i kēlā me kēia keena. He hoʻokahi chromosome 'X' a hoʻokahi chromosome 'Y' (XY) ko ke kāne.

ʻO ke keiki wahine me ka maʻi Turner e nalowale ana i kekahi o kēia mau chromosomes 'X' ʻelua a i ʻole kekahi hapa. Hana ʻia kēia i ka wā o ka hāpai ʻana i loko o ka ʻōpū o ka makuahine.

Aia kekahi mau ʻano nui o kēia ʻano:

• Monosomy X: ʻO kēia ke ʻano maʻamau. Maanei, hoʻokahi wale nō chromosome 'X' i loko o kēlā me kēia cell o ke kino.
• ʻO ka maʻi Mosaic Turner: Maanei, loaʻa i kekahi mau cell i ke kino nā chromosomes 'X' ʻelua, aʻo nā cell ʻē aʻe hoʻokahi wale nō chromosome 'X'. ʻOi aku ka maʻalahi o nā hōʻailona.
• Nā ʻano ʻino o ka chromosome X: I kekahi manawa ua piha paha kekahi chromosome 'X', aʻo ka mea ʻē aʻe paha he hapa wale nō.

He aha nā hōʻailona o ka maʻi Turner?

Hiki ke ʻokoʻa loa nā hōʻailona o kēia maʻi mai kēlā kanaka a kēia kanaka. Hānau ʻia kekahi mau keiki me nā hōʻailona, ​​aʻo kekahi poʻe e loaʻa nā hōʻailona i ka wā kamaliʻi a i ʻole ka wā ʻōpio. I kekahi manawa, he palupalu loa nā hōʻailona a ʻaʻole paha e ʻike ʻia ke ʻano a hiki i ka wā makua.

Pehea e ʻike ai i kēia maʻi?

Inā kānalua kāu kauka i kēia ma muli o ke ʻano o kāu keiki a i ʻole nā ​​​​pilikia ulu, e holo lākou i kekahi mau hoʻokolohua e hōʻoia i ia.

• I ka wā hāpai: Hiki ke ʻike mua ʻia kēia kūlana e kahi hāpana koko i lawe ʻia mai ka makuahine (NIPT - Non-Invasive Prenatal Testing) a i ʻole ma ka hoʻāʻo ʻana i ke kahe i loko o ka ʻōpū (amniocentesis).
• Ma hope o ka hānau ʻana: ʻO ka hoʻāʻo koʻikoʻi loa ka hoʻāʻo karyotype . Pili kēia i ka lawe ʻana i kahi hāpana o ke koko o ke pēpē, ka lawe ʻana i kahi "kiʻi" o nā chromosomes, a me ka ʻimi ʻana i kahi chromosome X i nalowale.

Eia kekahi, hiki i ke kauka ke ʻōlelo i nā hoʻokolohua e like me ka echocardiogram a me ka ultrasound scan e nānā i nā pilikia me ka puʻuwai, nā puʻupaʻa, a me ka lohe.

Pehea e mālama ʻia ai a hoʻokele ʻia ai?

No ka mea he maʻi hoʻoilina ka maʻi Turner, ʻaʻole hiki ke "ho'ōla loa ʻia." Eia nō naʻe, hiki ke hoʻokele pono ʻia nā pilikia olakino e pili ana me ia, e kōkua ana i ke keiki e ola i kahi ola olakino a maʻamau.

ʻElua mau ʻano lapaʻau nui:

1. Lapaʻau Hormone Ulu: Hoʻomaka pinepine ʻia kēia lāʻau lapaʻau i ka wā ʻōpiopio ke ʻike ʻia kahi keiki me ka ulu ʻole. ʻO kahi inikini i hāʻawi ʻia i nā manawa he nui i ka pule e kōkua i ke keiki e hoʻokō i ko lākou kiʻekiʻe loa.

2. Lapaʻau Estrogen: Hoʻomaka pinepine ʻia kēia lāʻau lapaʻau a puni ka makahiki ʻōpio (ma kahi o 11-12 mau makahiki). He hormone kūlohelohe ka Estrogen i hana ʻia i loko o ke kino o ke kaikamahine. Kōkua kēia lāʻau lapaʻau me ke kaʻina hana maʻamau o ka moekolohe i nā kaikamahine, e like me ka ulu ʻana o ka umauma a me ka menstruation.

Kōkua mai kahi hui o nā kauka loea

Ma muli o ka hiki i kēia mau keiki ke loaʻa nā pilikia mai nā wahi like ʻole, hāʻawi pinepine ʻia ka lāʻau lapaʻau e kahi hui o nā kauka loea.

• Kauka Pediatric: Mālama ia i ke olakino holoʻokoʻa o ke keiki.
• Pediatric Endocrinologist: Kūikawā i ka ulu ʻana a me nā pilikia hormonal.
• Kauka Puʻuwai: Nānā inā he pilikia me ka puʻuwai.
• Nephrologist: Nānā i ka hana o nā puʻupaʻa.
• Nā loea ʻē aʻe: Inā pono, e ʻimi ʻia ke kōkua o nā loea i ka pepeiao, ka ihu, ka ʻāʻī, nā orthopedics, a me nā pilikia aʻo.

Ke hana pū ʻoe ma ke ʻano he hui ma kēia ʻano, hiki iā ʻoe ke hāʻawi i ka mālama maikaʻi loa no kāu keiki.

He aha kāu e hiki ai ke hana ma ke ʻano he makua?

He mea maʻamau ke kaumaha a me ka hopohopo ke aʻo ʻoe i kahi mea e like me kēia. Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi.

• E ʻike koke: Inā ʻike ʻoe i kekahi lohi a loli paha i ka ulu ʻana o kāu keiki, e ʻike koke i ke kauka. ʻO ka mua o ka ʻike ʻia ʻana o ka maʻi, ʻo ka wikiwiki o ka hoʻomaka ʻana o ka lāʻau a ʻoi aku ka maikaʻi o nā hopena.
• E ʻike: E aʻo hou e pili ana i kēia maʻi. E kōkua kēia iā ʻoe e hana i nā hoʻoholo kūpono no kāu keiki a kūkākūkā i nā mea me kāu kauka.
• E kiʻi i ke kākoʻo: E kamaʻilio me nā mākua ʻē aʻe nona nā keiki e like me kēia. Hiki i kā lākou mau ʻike ke lilo i kumu hoʻoikaika nui. Eia kekahi, he mea maikaʻi ia no ke olakino noʻonoʻo o kāu keiki ke ʻike lākou aia kekahi poʻe e like me lākou.
• E noʻonoʻo e pili ana i ke olakino noʻonoʻo:Hiki i kēia huakaʻi ke lilo i mea paʻakikī nou a no kāu keiki hoʻi. E ʻimi i ke aʻo ʻana inā pono. E kōkua i ke kūkulu ʻana i ka manaʻo ponoʻī o kāu keiki. E mahalo i ko lākou mau hiki.