Loaʻa i kāu kaikamahine kēia mau hōʻailona? E kamaʻilio kākou e pili ana i ka Triple X Syndrome

Ua ʻike anei ʻoe ua ʻokoʻa iki ka hana a kāu kaikamahine ma mua o nā keiki ʻē aʻe, a i ʻole he lohi kona ulu ʻana? A i ʻole, inā he wahine makua ʻoe, ke hakakā nei ʻoe e ʻimi i ke kumu o kekahi mau pilikia olakino? I kēia lā e kamaʻilio mākou e pili ana i kahi kūlana genetic i lohe ʻole ʻia e ka poʻe he nui, akā pili wale i nā kaikamahine. Ua kapa ʻia ʻo Triple X Syndrome. Mai hopohopo, e kamaʻilio mākou e pili ana i kēia ma ke ʻano maʻalahi hiki iā ʻoe ke hoʻomaopopo.

He aha ka Triple X Syndrome?

I ka ʻōlelo maʻalahi, ʻo Triple X Syndrome kahi kūlana i hānau ʻia ai kahi keiki wahine me hoʻokahi chromosome X keu i loko o kāna mau cell, ma mua o nā chromosome X maʻamau ʻelua. Ua kapa ʻia kēia ʻo trisomy X syndrome, a i ʻole 47,XXX, e like me ka kapa ʻana o nā kauka.

E noʻonoʻo, ua hana ʻia ko kākou kino me nā miliona o nā keena liʻiliʻi. Aia i loko o kēlā me kēia o kēia mau keena ko kākou ʻike hoʻoilina, e like me ko kākou kiʻekiʻe, ke kala, a me ka maʻalahi i ka maʻi. Mālama ʻia kēia ʻike i loko o nā mea i kapa ʻia he chromosomes. Ma ka awelika, he 23 mau pālua o nā chromosomes o ke kanaka, a i ʻole 46 mau chromosomes. Hoʻokahi pālua o kēia mau mea e hoʻoholo ai i ko kākou kāne. ʻO ka maʻamau, he ʻelua mau chromosomes X (XX) ka wahine, a ʻo ka maʻamau, he hoʻokahi chromosome X a me hoʻokahi chromosome Y (XY) ka kāne.

Eia nō naʻe, ʻekolu mau chromosome X ko ke kanaka me ka Triple X Syndrome i loko o kā lākou mau cell āpau, a i ʻole i loko o kekahi o kā lākou mau cell wale nō. Inā loaʻa i kekahi o nā cell kēia chromosome X keu, ua kapa ʻia ʻo 46,XX/47,XXX mosaicism.

ʻAʻole paha ʻoe e loaʻa i kekahi mau hōʻailona o ka trisomy X, a ʻoi aku paha kou kiʻekiʻe ma mua o nā poʻe ʻē aʻe. Loaʻa paha iā ʻoe ka pilikia i ka loaʻa ʻana o nā keiki a i ʻole ka hele ʻana i ka menopause i ka wā mua, akā ʻaʻole kēia e hana i nā mea āpau me ke ʻano.

Pehea ka maʻamau o kēia ʻano?

ʻIke pinepine ʻia kēia ʻano ma kahi o hoʻokahi i loko o 900 a 1000 mau kaikamahine hānau hou. ʻO ke ʻano kēia he mau keiki paha ma Sri Lanka. Eia nō naʻe, he paʻakikī ke ʻike i ka helu pololei. No ka mea, ʻaʻole hōʻike ka nui o ka poʻe me kēia ʻano i kekahi mau hōʻailona, ​​ʻaʻole lākou e ʻimi i ka hoʻāʻo.

He aha nā hōʻailona o ka Triple X syndrome?

Nui nā ʻano hōʻailona like ʻole i waena o ka poʻe me ka Triple X Syndrome. ʻAʻohe paha ou hōʻailona, ​​a i ʻole he palupalu loa kāu mau hōʻailona a ʻaʻole paha ʻoe e ʻike iā lākou. A i ʻole, loaʻa paha iā ʻoe kekahi o nā hiʻohiʻona kino, nā pilikia e pili ana i ka lolo, a i ʻole nā ​​​​​​kūlana olakino ʻē aʻe e pili ana me ka Triple X Syndrome.

Nā ʻano kino

He nui ka poʻe me ka triple X syndrome ʻoi aku ke kiʻekiʻe ma mua o nā poʻe ʻē aʻe i ko lākou mau makahiki. Hiki paha iā lākou ke kiʻekiʻe ma mua o ka wānana a nā kauka ma muli o ke kiʻekiʻe o ko lākou mau mākua. Eia kekahi, aia paha kekahi mau ʻano kino ʻē aʻe:

• ʻOi aku ka mamao ma waena o nā maka ma mua o ka maʻamau ( hypertelorism ).
• ʻO ke alo o kahi ʻili ʻili (epicanthal folds) ma ke kihi o loko o ka maka.
• Ke kūlou ʻana a kekee paha o ka manamana lima liʻiliʻi ( clinodactyly ).
• Ka nāwaliwali o nā ʻiʻo ( hypotonia ), ʻo ia hoʻi, hiki ke emi iki ka ikaika o ke kino.

Nā kūlana e pili ana i ka ʻōnaehana nerve

Hiki i kekahi poʻe me ka triple X syndrome ke loaʻa i nā lohi o ka ulu ʻana a i ʻole nā ​​​​pilikia olakino noʻonoʻo. ʻO kēia mau mea:

• Nā lohi o ka ulu ʻana : No ka laʻana, nā mea e like me ka lohi o ka ʻōlelo a me ka lohi o ka hele ʻana.
• Nā kīnā aʻo .
• Ka maʻi hoʻolohe-nele/hyperactivity (ADHD ).
• Nā maʻi naʻau e like me ka hopohopo a me ke kaumaha.
• Ka hemahema ʻike iki.

Nā kūlana olakino ʻē aʻe

ʻOiai he mea kakaikahi, hiki i kekahi poʻe me ka triple X syndrome ke loaʻa nā kūlana e like me:

• Nā kūlana autoimmune .
• Nā loli i ke ʻano o ka puʻuwai.
• Nā maʻi pinepine o ke ala mimi ( UTI ).
• Nā kīnā genito- urinary a i ʻole nā ​​​​​​hana hewa.
• Nā ʻano ʻino o ka puʻupaʻa .
• ʻO ka ʻelemakule mua ʻana o ka ovarian a i ʻole ka hāʻule ʻana .
• Nā ʻūlū .

E hoʻomanaʻo, ʻaʻole e loaʻa i nā kānaka a pau kēia mau hōʻailona a pau. Loaʻa paha i kekahi poʻe hoʻokahi a ʻelua paha, a ʻaʻohe paha o kekahi.

He aha ke kumu o ka triple X syndrome?

ʻO ka maʻi Triple X kahi maʻi genetic i hoʻokumu ʻia e ke alo o kahi chromosome X ʻekolu. ʻOiai he genetic ia, ʻaʻole ia i hoʻoilina pinepine ʻia mai nā mākua o kekahi . ʻO ka hapa pinepine, hiki mai ia ma ka hanana. ʻO ia hoʻi, ʻo ka chromosome X keu i hoʻokumu ʻia e kahi hewa i ka mahele chromosome i ka wā o ka hoʻokumu ʻia ʻana o ka hua manu o ka makuahine a i ʻole ka sperm cell o ka makuakāne. He maʻi sporadic kēia.

Eia nō naʻe, ua ʻōlelo ʻia inā ʻoi aku ka nui o ka makuahine ma mua o 35 mau makahiki i ka wā e hānau ai ke keiki, ʻoi aku ka nui o ka pilikia o ke keiki i ka loaʻa ʻana o ka triple X syndrome.

Pehea ʻoe e ʻike ai i kēia?

ʻOiaʻiʻo, inā ʻaʻohe ou pilikia olakino a i ʻole ka lohi o ka ulu ʻana, he mea hiki loa ke ʻike ʻole ʻia kēia maʻi. Eia nō naʻe, inā manaʻo kekahi kauka ua loaʻa iā ʻoe (a i ʻole kāu keiki) ka trisomy X syndrome, e paipai lākou i ka hoʻāʻo ʻana i ka genetic. Ua kapa ʻia kēia hoʻāʻo he karyotype a i ʻole chromosome microarray.

ʻIke wale kekahi poʻe he triple X syndrome ko lākou ke hoʻāʻo ʻia lākou ma muli o nā pilikia hānau keiki.

Inā hāpai ʻoe, a ʻoi aku ʻoe ma mua o 35, a inā loaʻa iā ʻoe ka maʻi triple X, hiki i kāu kauka ke ʻōlelo aku i ka hoʻāʻo ʻana i ka genetic prenatal, no ka mea, ʻoi aku ka nui o ka pilikia o kāu pēpē i hānau ʻole ʻia e loaʻa i ke ʻano. Hiki i kēia ke komo pū me ka hoʻāʻo prenatal noninvasive (NIPT ), amniocentesis , a i ʻole chorionic villi sampling (CVS ). Hiki paha iā ʻoe ke ʻike e pili ana i ka triple X syndrome ma ka manawa kūpono ke hana ʻoe i nā hoʻokolohua ʻē aʻe e ʻike hou aku e pili ana i kāu pēpē. ʻOiai inā hōʻike ka hoʻāʻo prenatal i ka triple X syndrome, he mea nui nō hoʻi ka loaʻa ʻana o ka hoʻāʻo genetic ma hope o ka hānau ʻana o kāu pēpē e hōʻoia i ka hōʻailona .

Pehea e mālama ʻia ai?

ʻAʻohe lāʻau lapaʻau kūikawā no ka maʻi triple X. Eia nō naʻe, hiki i ka ʻike mua a me ke komo ʻana ke kōkua nui, ʻoiai no nā keiki e lohi ana ka ulu ʻana.

Ma hope o ka hōʻoia ʻana, hiki i kāu kauka ke kauoha i kekahi mau hoʻokolohua hou aʻe, no ka laʻana:

• ʻO ka ultrasound Renal e nānā i ke ʻano o kou mau puʻupaʻa.
• E kūkākūkā me ke kauka puʻuwai a i ʻole e hana i kahi EKG a i ʻole echocardiogram e nānā i ke kūlana o kou puʻuwai.
• He kūkākūkā neurology a me ka hoʻāʻo neuropsychological.

Eia kekahi, hiki i kāu mau kauka ke kōkua iā ʻoe e hoʻokele i kekahi mau hōʻailona e pili ana i ka triple X syndrome. Hiki iā lākou ke kuhikuhi iā ʻoe i nā loea e like me:

• He loea i ka endocrinology (nā pilikia e pili ana i ka hormone).
• Hoʻōla kino (no nā mea e like me ka nāwaliwali o nā ʻiʻo).
• ʻO ka hoʻoponopono hana (e kōkua i nā hana o kēlā me kēia lā).
• Hoʻōla ʻōlelo (no nā pilikia ʻōlelo).
• Psychology (no nā pilikia olakino noʻonoʻo).
• He loea hānau keiki no ke aʻo ʻana e pili ana i ka loaʻa ʻana o nā keiki a me ka hoʻolālā ʻohana.
• ʻO ke aʻoaʻo genetic inā makemake ʻoe e loaʻa kahi keiki.

Inā loaʻa iā ʻoe ka hāʻule ʻana o ka ovarian mua, e kūkākūkā kāu kauka i nā pono a me nā pōʻino o ka lawe ʻana i ka estrogen therapy me ʻoe.

Hiki ke pale ʻia ka Triple X Syndrome?

Ma muli o ka ʻike o kēia manawa, ʻaʻohe ala e pale aku ai i ka triple X syndrome. Inā he kiʻekiʻe kou pilikia o ka loaʻa ʻana o kahi keiki me ka triple X syndrome (e.g., inā ʻoi aku ʻoe ma mua o 35 mau makahiki), he manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i ka genetic a me ka hoʻāʻo ʻana i ka genetic prenatal.

He aha ka manaʻolana no ka poʻe e noho nei me kēia maʻi?

No ka hapa nui o nā kānaka, ʻaʻohe hopena nui o ka maʻi triple X i ko lākou ola. Ma keʻano laulā, hiki i ka ʻike mua a me ke komo ʻana ke kōkua i ka hōʻemi ʻana i ka hopena o ka lohi o ka ulu ʻana . Pono nā keiki e nānā mau ʻia e nānā i ko lākou ulu ʻana a me ka ulu ʻana. ʻOiai hiki ke ʻokoʻa loa nā hōʻailona mai kēlā kanaka a kēia kanaka, he mea nui e loaʻa kahi loiloi piha e hoʻoholo ai i kāu mau pono kikoʻī.

Pehea ke ola o ka lāʻau?

ʻAʻole pili maoli ka Triple X syndrome i ke ola o ke kanaka. Eia nō naʻe, hiki i kekahi o nā hopena ʻaoʻao e pili ana me ia ke loaʻa ka hopena. I ka hapanui o nā hihia, ola ka poʻe me ka triple X syndrome i kahi ola maʻamau, e like me ka poʻe me ʻelua mau chromosomes X.

He kīnā anei kēia?

ʻAʻole, ʻaʻole he kīnā ka maʻi triple X iā ia iho. Eia nō naʻe, hiki i kekahi o nā kūlana e pili ana me ia (e like me nā pilikia aʻo koʻikoʻi, nā pilikia olakino noʻonoʻo) ke kaupalena i kou hiki ke loaʻa a paʻa i kahi hana. Inā pēlā, ma kekahi mau ʻāina hiki paha iā ʻoe ke noi no nā mea e like me nā pono kīnā o ka Social Security. Ma Sri Lanka, inā pilikia ʻoe i ka loaʻa ʻana o kahi hana, hiki iā ʻoe ke nānā i nā ala e loaʻa ai ke kākoʻo mai ke aupuni a i ʻole nā ​​​​​​ʻoihana ʻē aʻe.

Pehea ka hopena o ka triple X syndrome i ka lolo?

No ka mea, he maʻi laha ʻole ka maʻi triple X, ʻaʻole i nui nā haʻawina nui i hana ʻia e pili ana i ka lolo o ka poʻe me ia. Ma kahi haʻawina liʻiliʻi o 35 mau keiki me ka trisomy X, ua ʻike nā kānaka noiʻi ua liʻiliʻi ko lākou lolo ma mua o nā keiki o ka makahiki maʻamau a me ke kāne. ʻO nā wahi o ka lolo e pili ana i ka ʻōlelo a me ka hana hoʻokō ka mea i hoʻopilikia nui ʻia. He 40% o kēia mau keiki i loaʻa i kahi maʻi olakino noʻonoʻo i kapa ʻia ʻo ka hopohopo. Eia nō naʻe, pono nā haʻawina nui aʻe e hōʻoia i kēia mau ʻike.

Nā mea e pono ai kākou e aʻo mai kēia (Leka Lawe-Home)

Malia paha he haʻahaʻa ka manaʻo o kāu keiki iā ia iho, a i ʻole ke pilikia nei i ka loaʻa ʻana o nā hoaaloha. A i ʻole ua hoʻāʻo paha ʻoe e loaʻa kahi pēpē no ka manawa lōʻihi a ʻaʻole i holomua. ʻOiai inā ua manaʻo mau ʻoe he ʻokoʻa iki mai nā mea ʻē aʻe a pau, ʻo ka ʻike ʻana he maʻi genetic kou hiki ke lilo i mea nui. I kekahi manawa, hiki i ka loaʻa ʻana o kahi hōʻailona ke lilo i mea hōʻoluʻolu, e like me, "ʻAuē, ʻo kēia ka mea i hana ʻia no ka manawa lōʻihi." I kekahi manawa, hiki ke manaʻo ʻia he weliweli, a i ʻole ua pau nā mea a pau.

Eia nō naʻe, ʻo ka hōʻailona he ʻike āu i ʻike ʻole ai ma mua. He manawa ka manawa e hoʻomaʻamaʻa ai a hoʻomaʻamaʻa iā ia. Ke noʻonoʻo nei i ka manawa a pehea e haʻi aku ai i kāu keiki, e kamaʻilio me ke kauka o kāu keiki. Hiki iā lākou ke hoʻopili iā ʻoe i nā hui kākoʻo a me nā kumuwaiwai ʻē aʻe. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. ʻO ka mea nui loa, ʻo ia ka makaʻala i kēia mau kūlana a loaʻa ke kōkua āu e pono ai.

ʻO ka Triple X Syndrome, Triple X Syndrome, Nā Maʻi Genetic, Ola Kino Wahine, Nā Chromosome, Ka Lohi o ka Hoʻomohala ʻana, X Chromosome