ʻO ka Bloom Syndrome: Ua ʻike anei ʻoe i kēia maʻi genetic laha ʻole?

Ua lohe paha ʻoe i ka Bloom Syndrome? Malia paha he mea hou iki kēia inoa iā ʻoe. He mea kakaikahi loa ia, ʻo ia hoʻi, ua hōʻike ʻia i loko o ka poʻe kakaikahi ma ka honua holoʻokoʻa. Eia nō naʻe, he mea nui loa ka makaʻala i kēia, no ka mea, he ʻano genetic ia e hiki ke hoʻopilikia i kekahi mau ʻōnaehana i loko o ko mākou kino. No laila, e kamaʻilio kākou e pili ana i ia mea me nā kikoʻī a me ka maʻalahi i kēia lā.

He aha ka Bloom Syndrome?

I ka ʻōlelo maʻalahi, ʻo Bloom Syndrome kahi maʻi genetic i hoʻoilina ʻia mai nā mākua a i nā keiki. Hoʻokumu ʻia kēia e kahi mutation i loko o ka gene BLM i loko o ko mākou kino, e hana pono ʻole ai. Hiki i kēia ke hoʻololi i nā ʻōnaehana like ʻole i loko o ke kino, e like me ka ulu ʻana a me ka ʻōnaehana pale.

ʻOi aku ka nui o ka loaʻa ʻana o nā maʻi i ka poʻe e noho nei me kēia maʻi. Loaʻa iā lākou nā lohi nui o ka ulu ʻana, ka ʻike i ka lā, a me ka piʻi ʻana o ka pilikia o ka maʻi kanesa . He mea weliweli paha kēia, akā he mea nui e makaʻala i kēia a hana i nā hana e pono ai.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia kūlana?

He maʻi laha ʻole ka Bloom Syndrome e hiki ke hoʻopilikia i kekahi hui lāhui ma ka honua. Eia nō naʻe, ua ʻike ʻia e ka noiʻi he mea maʻamau ia i nā poʻe o ka hanauna Iudaio Hikina o ʻEulopa, i ʻike ʻia ʻo Ashkenazi. Eia naʻe, ʻaʻole kēia manaʻo ʻaʻole hiki i kekahi ke loaʻa. I kēia manawa, ʻaʻole i ʻoi aku ma mua o 300 mau hihia i ʻike ʻia o ke ʻano ma ka honua holoʻokoʻa. No laila hiki iā ʻoe ke ʻike i kona laha ʻole.

Pehea ka hopena o ka Bloom Syndrome iā ʻoe a i ʻole kāu keiki?

ʻAʻole e ʻike nā kānaka a pau me kēia maʻi i nā hōʻailona like. Hiki i kekahi poʻe ke emi iki nā hōʻailona, ​​aʻo kekahi poʻe e ʻoi aku ka nui o ka pilikia. Akā aia kekahi mau hōʻailona maʻamau.

Nā hiʻohiʻona kino i ʻike ʻia

• ʻOi aku ka pōkole ma mua o ke kiʻekiʻe maʻamau: Hiki i kēia poʻe ke ulu pōkole iki ma mua o ke keiki maʻamau.
• He helehelena ololi a me nā pepeiao nui: Hiki iā ʻoe ke ʻike i kekahi mau ʻokoʻa i ke ʻano o ka helehelena.
• He leo kiʻekiʻe: Aia paha he ʻokoʻa i ka leo.

Nā kūlana olakino e hiki ai ke hoʻonui i ka pilikia

Ma waho aʻe o kēia mau ʻano kino, ʻoi aku ka nui o ka pilikia o ka poʻe me Bloom Syndrome i ka hoʻomohala ʻana i kekahi mau pilikia olakino ʻē aʻe.

• Ka Maʻi Puʻuwai Pale Mau Loa (COPD): Hiki ke loaʻa nā pilikia lōʻihi me nā māmā.
• Nā maʻi pinepine: Hiki ke loaʻa pinepine nā maʻi, ʻoiai ma nā pepeiao a me nā māmā. Hiki paha kēia ma muli o kekahi mau nāwaliwali o ko lākou ʻōnaehana pale.
• Ke kū'ē'ē o ka insulin a me ka ma'i diabetes:Aia ka pilikia o ka loaʻa ʻana o nā maʻi e like me ka maʻi diabetes.
• ʻO ka ʻili a i ʻole nā ​​​​​​ʻeha i ka wā e hōʻike ʻia ai i ka lā: Loaʻa paha i kekahi poʻe nā ʻano ʻili ʻulaʻula, e like me ka eczema i ka wā e hōʻike ʻia ai i ka lā.

E makaʻala hoʻi kākou i ka pilikia o ka maʻi kanesa.

ʻO kēia ka pilikia koʻikoʻi loa e pili ana me ka Bloom Syndrome. ʻOi aku ka nui o ka pilikia o ka poʻe me kēia maʻi i ka loaʻa ʻana o kekahi mau ʻano maʻi kanesa i ka wā ʻōpiopio ma mua o ke kanaka maʻamau. Eia kekahi, aia kahi hiki ke loaʻa i nā maʻi kanesa he nui. No laila, pono e uku ʻia ka nānā kūikawā i kēia.

ʻO kekahi o nā ʻano maʻi kanesa weliweli loa:

• ʻO ka puʻupuʻu Wilms - He ʻano maʻi ʻaʻai kēia e kū mai ana i loko o nā puʻupaʻa.
• Nā maʻi ʻaʻai gastrointestinal - ʻo ia hoʻi, nā maʻi ʻaʻai o nā ʻōpū a me ka ʻōpū.
• Leukemia - He maʻi ʻaʻai e pili ana i ke koko.
• ʻO Lymphoma - kahi maʻi ʻaʻai o ka ʻōnaehana lymphatic.
• ʻO ka Osteosarcoma - He maʻi ʻaʻai e kū mai ana i loko o nā iwi.
• ʻO ke kanesa ʻili - ʻoi aku hoʻi ke ʻano i kapa ʻia ʻo ka maʻi kanesa squamous cell.

He mea maʻamau ka makaʻu ke lohe ʻoe e pili ana i kēia mau maʻi kanesa. Eia nō naʻe, hiki i nā hoʻokolohua maʻamau e like me ka ʻōlelo a kāu kauka ke kōkua i ka ʻike mua ʻana iā lākou. Hoʻonui kēia i ka manawa kūpono o ka mālama ʻana.

Aia kekahi mau inoa ʻē aʻe no ka Bloom Syndrome?

ʻAe, i kekahi manawa kapa nā kauka i kēia maʻi ʻo "Bloom-Torre-Machacek syndrome." ʻO kekahi inoa ʻē aʻe ʻo "congenital telangiectatic erythema." ʻOiai paha he mea paʻakikī iki kēia inoa, ʻo ka inoa i hoʻohana pinepine ʻia ʻo Bloom Syndrome.

He aha ke kumu o kēia kūlana? E nānā pono kākou.

E like me kā mākou i ʻōlelo ai ma mua, he maʻi hoʻoilina ka Bloom Syndrome. ʻO ia hoʻi, ua hana ʻia e kahi kīnā i loko o nā genes a mākou e hoʻoilina ai mai ko mākou mau mākua. Loaʻa i kēlā me kēia o kā mākou mau cell kahi mea i kapa ʻia ʻo chromosomes. ʻO kēia mau chromosomes ka mea e mālama ai i kā mākou ʻike hoʻoilina.

Hoʻopilikia kūikawā ʻia ka Bloom Syndrome e kahi gene i kapa ʻia ʻo BLM. Kōkua kēia gene i ka hoʻoponopono ʻana i kā mākou DNA a mālama i ke kūpaʻa o nā chromosomes. E noʻonoʻo, inā ʻaʻole hana pono kēia gene BLM, aia kahi manawa kiʻekiʻe o nā hewa DNA e hana ʻia i ka wā e māhelehele ai kā mākou mau cell. ʻO ia ke kumu nui o kēia maʻi.

Inā loaʻa i nā mākua ʻelua kahi mutation i loko o ka gene BLM (ʻo ia hoʻi, he mau mea lawe lākou i ke ʻano), a laila i ka wā e loaʻa ai iā lākou kahi keiki, aia kahi manawa 1 i loko o 4 e hoʻoilina ai ke keiki i ke ʻano me kēlā me kēia hāpai ʻana . ʻO ke ʻano kēia, loaʻa wale ka Bloom Syndrome inā loaʻa i ke keiki nā kope ʻelua o ka gene BLM i mutated mai ka makuahine a me ka makuakāne.

He aha nā hōʻailona o ka Bloom Syndrome?

Hiki i kēia ʻano ke hana i nā ʻano hōʻailona like ʻole. ʻAʻole e ʻike nā kānaka a pau iā lākou āpau. Hiki ke maʻalea loa kekahi mau hōʻailona, ​​a ʻoi aku ka maopopo o kekahi.

ʻO nā hōʻailona i ʻike pinepine ʻia:

• ʻO nā mea ʻē aʻe ma ka maka, ka ʻāwae, a me nā pepeiao: no ka laʻana, he maka ololi, nā pepeiao nui.
• Nā loli i loko o ka ʻōnaehana endocrine a me ka ʻōnaehana pale: Nā loli i ka hana hormone a me ke kū'ē ʻana i nā maʻi.
• Nā lohi o ka ulu ʻana a me ka noʻonoʻo: Loaʻa paha i kekahi mau keiki nā pilikia aʻo.
• ʻO ka hypersensitivity i ka lā: ʻOiai he manawa pōkole o ka hōʻike ʻana i ka lā hiki ke hoʻomehana i ka ʻili a lilo i ʻulaʻula.
• Nā maʻi pinepine: ʻO nā maʻi pepeiao a me nā maʻi māmā (e like me ka niumonia) e hiki pinepine mai.
• Nā pilikia ulu i ka wā o ka pēpē ma ka ʻōpū a ma hope paha o ka hānau ʻana: Hiki i ka pēpē ke emi ke kaumaha a me ke kiʻekiʻe i loko o ka ʻōpū a ma hope o ka hānau ʻana.
• Nā pilikia ʻili: Nā kiko ʻulaʻula, nā ʻōhūhū, a me nā ʻōhūhū, ʻoiai ke kau ʻia i ka lā. Hiki i kēia ke pālahalaha ma nā papālina a me ka ihu i ke ʻano o ka pulelehua.

Pehea e ʻike ai nā kauka i kēia maʻi?

I kekahi manawa, hiki ke ʻike ʻia ke kūlana i ka wā e noho ana ke pēpē i loko o ka ʻōpū. No ka laʻana, inā hōʻike kahi scan ʻaʻole e ulu ana ke pēpē e like me ka mea i manaʻo ʻia, hiki i nā kauka ke ʻōlelo aku i kahi hoʻokolohua kūikawā, e like me ka amniocentesis genetic, kahi e nānā ai i nā genes o ke pēpē.

A i ʻole, ma hope o ka hānau ʻana o ka pēpē, ʻike paha ʻoe a i ʻole ke kauka lapaʻau e nānā ana i ka pēpē i kekahi o kēia mau hōʻailona. ʻO ia ka manawa e ʻōlelo ʻia ai ka hoʻāʻo hou aku.

He aha nā hoʻokolohua diagnostics?

E hana mua nā kauka i kahi hoʻokolokolo kino o ke keiki. A laila, hiki iā lākou ke hana i kahi hoʻāʻo koko e nānā i ke ʻano o nā chromosomes. Hiki i kēia ke hoʻoholo pono inā he kīnā i loko o ka gene BLM.

He aha nā lāʻau lapaʻau no ka Bloom Syndrome?

ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau kikoʻī e hiki ke ho'ōla loa i ka Bloom Syndrome. ʻO ke kumu nui o nā lāʻau lapaʻau o kēia manawa ka hoʻokele ʻana i nā hōʻailona a me ka pale ʻana i nā pilikia hiki.

• Nā pilikia meaʻai i nā keiki ʻōpio: Hiki i nā pēpē me kēia maʻi ke nalowale i ka makemake a me ka pohō kaumaha. No laila, hiki i nā kauka ke ʻōlelo aku i nā wai hou a me nā meaʻai momona e pale aku ai i ka maloʻo a me ka ʻai ʻole.
• Nā Nānā ʻana i ke Kanesa: E like me kā mākou i kūkākūkā ai ma mua, ma muli o ke kiʻekiʻe o ka pilikia o ka maʻi kanesa, paipai nā kauka i nā nānā mau ʻana i ke kanesa. Hiki i kēia ke kōkua i ka ʻike ʻana i ke kanesa i ka wā mua inā ulu ia.
• Nā lāʻau antibiotic no nā maʻi:Ma muli o ka pinepine ʻana o nā maʻi, pono paha nā lāʻau antibiotic e mālama iā lākou.

Aia kekahi ala e pale aku ai i kēia kūlana?

He maʻi hoʻoilina ka Bloom Syndrome, ʻo ia hoʻi, ua hoʻoilina ʻia, no laila ʻaʻohe mea hiki iā mākou ke hana e pale aku ai i kona hiki ʻana mai. ʻAʻole hiki iā mākou ke hoʻōki i ka hoʻololi ʻana o ka gene.

Eia nō naʻe, inā ʻoe a me kāu hoa e hoʻolālā ana e loaʻa kahi keiki, hiki ke hana ʻia ke aʻoaʻo genetic a me ka hoʻāʻo genetic. Hiki i kēia ke kōkua iā ʻoe e ʻike inā loaʻa iā ʻolua ka mutation gene BLM e pili ana me Bloom Syndrome, ʻo ia hoʻi he mau mea lawe ʻoe i ke ʻano. Hiki i kēia ke kōkua iā ʻoe e hoʻomaopopo i ka pilikia o ka hoʻoili ʻana i ke ʻano i kahi keiki e hiki mai ana.

He aha kaʻu e manaʻo ai inā loaʻa iaʻu a i ʻole kaʻu keiki ka Bloom Syndrome?

Inā loaʻa iā ʻoe ka Bloom Syndrome, aia ʻoe i ka nui o ka pilikia o ka loaʻa ʻana o kekahi mau ʻano maʻi kanesa, ʻo ka maʻamau i ka wā ʻōpio. ʻO ka ʻoiaʻiʻo, ʻo ke kumu nui o ka make ʻana o ka poʻe me kēia maʻi, ʻo ia nā pilikia mai ka maʻi kanesa. Eia nō naʻe, ʻo ka ʻike mua ʻia ʻana o ka maʻi kanesa, ʻoi aku ka nui o ka manawa kūpono o ka mālama ʻana. No laila, he mea nui e loaʻa nā hoʻokolohua maʻamau e like me ka ʻōlelo a kāu kauka.

He maʻalahi loa ka poʻe me Bloom Syndrome i ka radiation ionizing. Hiki i kēia radiation ke hōʻino i nā cell. No laila, hiki i kāu kauka ke aʻo iā ʻoe e pale a kaupalena paha i kou ʻike ʻana i kēia mau ʻano radiation:

• Nānā CT
• X-ray

Inā loaʻa iā ʻoe ka maʻi kanesa, hiki i ka Bloom Syndrome ke hoʻopilikia i kāu mālama ʻana i ka maʻi kanesa. ʻŌlelo pinepine nā kauka i ka poʻe me kēia maʻi e pale i ka radiation therapy.

Hiki ke ho'ōla ʻia ka Bloom Syndrome?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Bloom Syndrome. Inā loaʻa iā ʻoe a i ʻole kāu keiki ke ʻano, he ʻano ia no ke ola holoʻokoʻa. Eia naʻe, ʻaʻole kēia manaʻo e haʻalele ʻoe i ka manaʻolana. Noho ka nui o ka poʻe me ke ʻano a hiki i ka wā makua. ʻO ka mea nui loa, ʻo ia ka mālama ʻana i nā hōʻailona a me ka makaʻala i nā pilikia hiki ke loaʻa.

Pehea wau e mālama ai iaʻu iho a i ʻole kaʻu keiki me Bloom Syndrome?

ʻO ka mea nui loa, ʻo ia ka hahai ʻana i nā ʻōlelo a kāu kauka. E kōkua lākou iā ʻoe a me kāu pēpē e olakino maikaʻi loa.

ʻOi aku hoʻi, e hoʻomanaʻo e kau i ka sunscreen, e ʻaʻahu i nā lole e uhi ana i kou ʻili, a e ʻaʻahu i ka pāpale i kēlā me kēia manawa āu e hele ai i waho i ka lā. Hiki i kēia ke kōkua i ka hōʻemi ʻana i ka pōʻino o ka lā i kou ʻili.

ʻO ka holoi pinepine ʻana i kou mau lima a me ka noho mamao ʻana mai nā wahi piha kanaka e like me ka hiki ke kōkua iā ʻoe e pale aku i nā maʻi. Eia kekahi, ʻo ka ʻai ʻana i ka meaʻai kaulike a me ka hiamoe lawa he mea nui loa ia no kou olakino.

ʻO ka mea hope loa, leka lawe i ka home

He maʻi laha ʻole ka Bloom Syndrome, he maʻi hoʻoilina i hiki ke hoʻoulu i nā ʻano ulu ʻole, nā hiʻohiʻona helehelena, nā ʻulaʻula ʻili, a me nā maʻi pinepine. ʻO ka mea nui loa, ʻoi aku ka nui o ka pilikia o ka poʻe me kēia maʻi i ka loaʻa ʻana o nā ʻano maʻi kanesa like ʻole.

Inā he mau nīnau hou kāu e pili ana i kēia, a inā manaʻo ʻoe he mau hōʻailona kēia o kāu keiki, e ʻike pono i ke kauka no ka ʻōlelo aʻo. E kamaʻilio me kāu kauka e pili ana i ka loaʻa ʻana o nā hoʻokolohua maʻamau no ka maʻi kanesa a me nā mea hiki iā ʻoe ke hana e noho olakino. E hoʻomanaʻo, ʻo ka ʻike mua ʻana a me ka hoʻokele kūpono nā ala maikaʻi loa e ola maikaʻi ai me kēia maʻi. Mai hopohopo, eia nā kauka e kōkua.

ʻO ka maʻi Bloom, ka maʻi genetic, ka gene BLM, ka pilikia o ka maʻi kanesa, ka ʻike i ka lā, ka lohi o ka ulu ʻana, nā maʻi pinepine