ʻO nā mea e pono ai ʻoe e ʻike e pili ana i ka Rothmund-Thomson Syndrome (RTS)

Ke hopohopo nei ʻoe no ka ʻili a i ʻole ka nalowale o ka lauoho o kāu keiki liʻiliʻi? I kekahi manawa, hiki ke hana ʻia kēia mau hōʻailona e kahi maʻi laha ʻole. ʻO kekahi o ia ʻano maʻi ʻo Rothmund-Thomson Syndrome , a i ʻole (RTS) no ka pōkole. He paʻakikī iki paha ke kani ʻana o ka inoa, akā e mālama kākou i ka maʻalahi a maʻalahi hoʻi e hoʻomaopopo.

He aha ka Rothmund-Thompson Syndrome (RTS)?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Rothmund-Thompson kahi maʻi i hānau ʻia me kekahi mau pēpē. He maʻi genetic ia. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi loli o kekahi o nā genes liʻiliʻi loa i loko o ko mākou kino. Hiki i kēia maʻi ke hoʻopilikia i kekahi mau ʻāpana o ke kino o ke keiki. Hoʻopilikia nui ia i ka ʻili, ka lauoho, nā niho, nā iwi, nā maka, a me ka momona. I kekahi manawa, loaʻa i kēia mau keiki nā loli i ka nui a me ke ʻano o nā mea e like me ko lākou mau lima, nā wāwae, a me nā poho lima.

ʻO wai ka mea i loaʻa i kēia maʻi? Pehea ka maʻamau?

He maʻi hoʻoilina ka maʻi Rothmund-Thompson. ʻO ke ʻano kēia inā loaʻa i nā mākua ʻelua kahi mutation i loko o kahi gene kikoʻī, loaʻa paha i kā lāua keiki ka maʻi.

Akā, mai hopohopo, he maʻi laha ʻole kēia. Ma kahi o 300 mau hihia wale nō i hōʻike ʻia ma ka honua holoʻokoʻa. No laila, ʻaʻole ia he mea e hiki mai ana i nā kānaka a pau.

Aia kekahi inoa ʻē aʻe no kēia? ʻAe, i kekahi manawa ua kapa ʻia ʻo ia he `(poikiloderma congenitale)`.

Pehea ka hopena o ka maʻi Rothmund-Thompson i kaʻu pēpē?

Hiki i kēia kūlana (RTS) ke hoʻololi i ke ʻano o ka ulu ʻana a me ka ulu ʻana o ke keiki. E nānā kākou i nā mea e hana nui ʻia:

• ʻŌhūhū ʻili: Hiki ke ʻike ʻia kahi ʻōhūhū ʻulaʻula, ʻoi aku hoʻi ma nā papālina.
• Ka nalowale o ka lauoho a i ʻole ka lahilahi: Aia paha ka nalowale o ka lauoho ma ke poʻo, a me ka nalowale o nā maka maka a me nā kuʻemaka.
• Nā loli o ka maka: Hiki ke loaʻa kekahi mau pilikia maka.
• Ka lohi o nā niho: Hiki ke ulu ma hope o nā keiki ʻē aʻe.
• Nā hiʻohiʻona helehelena: E ʻike paha ʻoe i nā hiʻohiʻona e like me ka ihu liʻiliʻi a me ka ʻāwae haʻahaʻa e puka ana.

Pehea e pili ai ka Rothmund-Thompson Syndrome i nā ʻōnaehana kino

Hiki i kēia maʻi hoʻoilina ke hoʻopilikia i nā kānaka ma nā ʻano like ʻole. ʻO ke ʻano kēia, ʻaʻole e ʻike nā kānaka a pau i nā hōʻailona like. E nānā kākou pehea e hoʻopilikia ai i nā ʻōnaehana kino like ʻole.

ʻIli

ʻO ka maʻamau, loaʻa i nā pēpē me kēia maʻi kahi ʻulaʻula ma ko lākou helehelena ma waena o 3 a me 6 mau mahina. Hiki i kēia ʻulaʻula ke pālahalaha ma hope aku i nā lima, nā wāwae, a me nā puʻupuʻu. Ua kapa ʻia kēia ʻulaʻula he "poikiloderma." He hui pū ʻia ia o nā hōʻailona e like me ka hoʻololi ʻana o ka ʻili, nā kīʻaha koko i ʻike ʻia, a me ka lahilahi o ka ʻili.

ʻO ka mea nui loa, ʻoi aku ka nui o ka pilikia o kēia mau keiki i ka loaʻa ʻana o ka maʻi ʻili (ʻO ka maʻi ʻili basal cell carcinoma a me ka ʻO ka maʻi ʻili squamous cell carcinoma). No laila, he mea nui loa ka pale ʻana i ka lā a me ka nānā mau ʻana i ka ʻili.

Lauoho

He kakaikahi loa paha ka lauoho poʻo o kēia mau keiki. He kakaikahi paha a ʻaʻohe paha o lākou mau maka maka a me nā kuʻemaka.

Nā niho

Hiki i nā keiki me ka maʻi Rothmund-Thompson ke nalowale nā ​​niho, loaʻa nā niho kūpono ʻole, a i ʻole he mau niho e ulu lohi loa ana. Loaʻa iā lākou ka pilikia kiʻekiʻe o ka loaʻa ʻana o nā lua niho. No laila, he manaʻo maikaʻi e nānā pinepine ʻia kou mau niho e ke kauka niho.

Nā maka

ʻOi aku ka nui o ka pilikia o nā keiki me kēia maʻi hoʻoilina i ka loaʻa ʻana o nā cataracts, ma waena o nā makahiki 3 a me 7. ʻO nā cataracts ka uhi ʻana o ka lens i loko o ka maka. Hiki i kēia ke alakaʻi i ka nalowale o ka ʻike.

Nā iwi

Aia paha kekahi mau loli i nā iwi. Hiki ke liʻiliʻi nā iwi ma mua o ka maʻamau, hiki ke hui pū ʻia, a i ʻole e nalowale ana kekahi mau iwi. Eia kekahi, he lahilahi nā iwi a hiki ke haki maʻalahi (haʻihaʻi).

ʻŌnaehana hoʻoheheʻe (Gastrointestinal)

Hiki i nā pēpē me RTS ke loaʻa nā pilikia hānai. He mea maʻamau nō hoʻi ka luaʻi a me ka maʻi pākī.

ʻŌnaehana koko (Hematologic)

Hoʻomohala pinepine kēia mau keiki i nā maʻi e like me ka anemia a me ka helu haʻahaʻa o nā keʻokeʻo koko. ʻO nā keʻokeʻo koko keʻokeʻo kahi ʻano keʻena i loko o ko mākou kino e hakakā nei i nā maʻi.

Ka ulu ʻana

Hiki ke hānau ʻia kēia mau pēpē me ke kaumaha haʻahaʻa i ka wā hānau a me ke kino pōkole. He nui ka poʻe me ka maʻi Rothmund-Thompson e noho pōkole ma mua o ke kanaka maʻamau i ko lākou ola a pau.

Ka hānau keiki ʻana

I nā wahine, hiki ke loaʻa nā ʻano menstruation kūpono ʻole.

He aha nā pilikia o ka Rothmund-Thompson syndrome?

He mea kēia e pono ai kākou e hopohopo nui. ʻO nā keiki me (RTS) e piʻi aʻe ka pilikia o ka loaʻa ʻana o kekahi mau ʻano maʻi kanesa. ʻO nā mea nui:

• Ka maʻi ʻaʻai iwi (`Osteosarcoma`)
• ʻO ka maʻi leukemia lymphatic, kahi ʻano maʻi koko
• Lymphoma (ka maʻi ʻaʻai o ka ʻōnaehana lymphatic)
• ʻO ke kanesa ʻili ('Basal cell carcinoma' a me 'Squamous cell carcinoma')

No laila, he mea nui loa ka hoʻomaʻamaʻa pinepine ʻana i kēia mau keiki i nā hoʻokolohua lapaʻau a e makaʻala hoʻi e pili ana i ka maʻi ʻaʻai.

He aha ke kumu o ka maʻi Rothmund-Thompson?

Hoʻokumu ʻia ka maʻi Rothmund-Thompson e kahi mutation i loko o nā genes 'ANAPC1' a i ʻole 'RECQL4'.Hoʻoilina kekahi poʻe me RTS i kēia mutation mai ko lākou makuahine a me ko lākou makuakāne. Eia kekahi laʻana, inā ʻo ʻoe a me kāu hoa he mau mea lawe i kēia mutation gene, loaʻa i kāu keiki he 1 i loko o 4 manawa kūpono e loaʻa ai ka RTS.

Eia naʻe, ʻaʻole nā ​​kānaka a pau me RTS i loaʻa kēia hoʻololi ʻana o ka gene. Ke noiʻi nei nā kānaka noiʻi i ke kumu e hoʻomohala ai kekahi poʻe i ka RTS me ka loaʻa ʻole o kahi hoʻololi ʻana i nā genes 'ANAPC1' a i ʻole 'RECQL4'.

He aha nā hōʻailona o ka maʻi Rothmund-Thompson?

ʻIke pinepine ʻia nā hōʻailona o ka maʻi Rothmund-Thompson i loko o ka makahiki mua o ke ola. Eia nō naʻe, ʻokoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka. ʻO kekahi mau hōʻailona maʻamau:

• Nā Cataracts
• Nā loli i nā hiʻohiʻona o ka helehelena (e.g., ihu liʻiliʻi, ʻāwae lalo e kūlou ana)
• Nā pilikia hānai, ʻoiai ka luaʻi ʻana a i ʻole ka maʻi palahēhē ma hope o ka inu ʻana i ka waiū a i ʻole ka waiū waiū
• Nā ʻano kīnā o nā iwi o nā lima, nā lima, a i ʻole nā ​​​​wāwae
• Nā niho liʻiliʻi, ʻano ʻē, a nalowale paha
• ʻO ka nalowale o ka lauoho a i ʻole ka emi ʻana o ka ulu ʻana o ka lauoho (me nā maka maka a me nā kuʻemaka)
• Nā ʻāpana paʻakikī a ʻāʻī hoʻi ma ka ʻili (nā ʻeha keratotic - e like me nā kulina)
• ʻŌhūhū ʻili (poikiloderma) a me nā pehu paha
• Nā loli o ka pigmentation ʻili (nā kiko o ke kala ʻili)

Pehea e ʻike ai nā kauka i ka maʻi Rothmund-Thompson?

Hiki paha iā ʻoe ke ʻike i kēia mau hōʻailona i loko o kāu pēpē. A i ʻole, hiki paha i kāu kauka ke ʻike i kēia mau hōʻailona i ka wā o kahi kipa maʻamau no ka pēpē maikaʻi. Inā kānalua kāu kauka iā RTS, e kauoha lākou i kekahi mau hoʻokolohua e hōʻoia i ka hōʻailona.

He aha nā hoʻokolohua i hoʻohana ʻia no ka ʻike ʻana (RTS)?

Hiki i ke kauka ke ʻōlelo i nā hoʻokolohua e like me:

• Biopsy ʻili: Inā loaʻa i kāu keiki kahi ʻili ʻili i kapa ʻia ʻo poikiloderma, hiki i ke kauka ke lawe i kahi ʻāpana liʻiliʻi o ka ʻili a hoʻouna aku no ka hoʻāʻo ʻana. E nānā nā kauka loea (pathologists) i kēia ʻāpana ma lalo o kahi microscope e ʻike inā he mau loli i loko o nā ʻili.
• Hoʻāʻo ʻana i ka genetics: He hoʻāʻo koko kēia. Hiki iā ia ke ʻike inā he mutation i loko o nā genes `ANAPC1` a i ʻole `RECQL4`. Hiki i kēia ke hōʻoia (RTS). Akā e hoʻomanaʻo, ʻaʻole nā ​​​​pēpē āpau me (RTS) i loaʻa kēia mutation genetic.

Pehea e mālama ʻia ai ka maʻi Rothmund-Thompson?

ʻO ka mea pōʻino, ʻaʻole hiki i nā kauka ke ho'ōla loa i ka maʻi Rothmund-Thompson. Akā hiki iā lākou ke mālama i nā hōʻailona. ʻO ka mālama ʻana no (RTS) e pili ana i nā hōʻailona o kāu keiki. E kamaʻilio kāu kauka me ʻoe e pili ana i nā lāʻau lapaʻau e hiki ke kōkua i ka mālama ʻana i ke olakino o kāu keiki.

Ma muli o nā hōʻailona kikoʻī a me ka makahiki o kāu keiki, hiki i nā kauka ke ʻōlelo i nā lāʻau lapaʻau e like me:

• ʻO ke ʻoki ʻana i ka cataract e hoʻomaikaʻi ai i ka ʻike.
• Inā he mau iwi ʻē, hiki ke mālama ʻia me nā ʻoki iwi kūikawā ('Nā ʻoki Orthopedic') .
• Ka palekana mai ka lā ikaika(e hoʻohana ana i ka pale lā, e ʻaʻahu ana i nā pāpale) a e nānā mau i kou ʻili .
• ʻO ka nānā pinepine ʻana i nā niho a me nā lāʻau lapaʻau niho inā pono.
• Ka nānā ʻana i ke kanesa: ʻO ke ʻano kēia o ka nānā mau ʻana i nā hōʻailona o ke kanesa.

Aia kekahi lāʻau lapaʻau genetic no kēia?

I kēia manawa, ʻaʻohe lāʻau lapaʻau gene i ʻāpono ʻia no ka maʻi Rothmund-Thompson, akā ke hoʻomau nei nā mea noiʻi i ka noiʻi ʻana i nā hoʻololi genetic e pili ana me RTS.

Hiki iaʻu ke pale aku i ka ulu ʻana o kaʻu pēpē (RTS)?

ʻO ka mea pōʻino, ʻaʻohe ala e pale aku ai i ka maʻi Rothmund-Thompson. He maʻi hoʻoilina ia. Hiki i kekahi poʻe ke loaʻa iā ia ma muli o ka mōʻaukala ʻohana. I kekahi manawa hiki ke hana ʻia no nā kumu i wehewehe ʻole ʻia.

Pehea e ʻike ai inā pilikia kaʻu pēpē i ka ulu ʻana (RTS)?

Inā loaʻa i kekahi o kou ʻohana (a i ʻole ka ʻohana o kāu hoa) ka maʻi Rothmund-Thompson, he mea nui loa ia e loaʻa ka ʻōlelo aʻoaʻo genetic. E kōkua kēia iā ʻoe e aʻo hou e pili ana i kou pilikia o ka loaʻa ʻana o kahi keiki me RTS. Hiki iā ʻoe a me kāu hoa ke hana i nā hoʻāʻo koko e ʻike ai inā he mau mea lawe ʻoe i kēia hoʻololi gene.

E noʻonoʻo ʻoe ua loaʻa iā ʻolua kēia hoʻololi ʻana o ka gene. ʻAʻole kēia manaʻo e loaʻa maoli ana i kāu pēpē ka RTS. Hiki i kāu pēpē ke lilo i mea lawe o ka RTS (ʻo ia hoʻi, hiki iā ia ke hoʻoili i ka gene i kāna mau keiki me ka ʻole o nā hōʻailona), akā hiki nō hoʻi ʻaʻole e loaʻa iā ia nā hōʻailona.

He aha kaʻu e manaʻo ai inā loaʻa i kaʻu keiki (RTS)?

E nānā pono nā kauka i kāu keiki ('surveillance'). No ka mea, ʻoi aku ka nui o ka pilikia o nā keiki me (RTS) i ka loaʻa ʻana o kekahi mau maʻi kanesa, e nānā mau ke kauka i nā hōʻailona o kēia mau maʻi kanesa.

Pono paha kāu keiki i ke kōkua mai nā loea e hoʻokele i kekahi o kā lākou mau hōʻailona RTS. Ma waho aʻe o kā lākou pediatrician maʻamau, e ʻike paha lākou i kahi ophthalmologist, dermatologist, dentist, orthopedist, geneticist, a me hematologist/oncologist .

He aha ke kūlana o ke ola o kaʻu keiki me ka maʻi Rothmund-Thompson?

He wā e hiki mai ana maikaʻi ka hapa nui o nā keiki me ka maʻi Rothmund-Thompson. He maʻamau nō hoʻi ko lākou akamai. ʻO ka poʻe me (RTS) ʻaʻole i loaʻa i ka maʻi kanesa e ola i kahi ola maʻamau.

Pehea e mālama ai i kaʻu keiki me ka maʻi Rothmund-Thompson?

E kamaʻilio mau me kāu kauka e pili ana i nā hōʻailona o kāu keiki. Hiki i ke kauka ke ʻōlelo aku e ʻimi i ke kōkua mai nā loea.

E haʻi koke aku i kāu kauka inā ʻike ʻoe i kekahi mau kiko hou a i ʻole nā ​​puʻupuʻu ma ka ʻili o kāu keiki, ʻoiai inā loli ke kala a i ʻole ke ʻano. Eia kekahi, e haʻi aku i kāu kauka inā ʻike ʻoe i kekahi pehu a puʻupuʻu paha ma nā lima a i ʻole nā ​​​​wāwae o kāu keiki, a inā paha e ʻōhumu ana kāu keiki i ka ʻeha.

Leka Lawe-Home

ʻO ka maʻi Rothmund-Thompson kahi maʻi genetic i hānau ʻia me kekahi mau pēpē. Hoʻoulu ia i nā ʻulaʻula ʻili, ka lauoho, ka iwi, a me nā loli niho. Hoʻonui pū ia i ka pilikia o ka maʻi kanesa. ʻAʻole hiki ke ho'ōla ʻia (RTS), akā hiki ke mālama ʻia nā hōʻailona. E kamaʻilio me kāu kauka e pili ana i nā ala e kōkua ai i kāu keiki e ola i ke ola olakino. Mai hopohopo, hiki ke mālama ʻia kēia maʻi me ka ʻōlelo aʻoaʻo lapaʻau kūpono a me ka mālama.

ʻO ka maʻi Rothmund-Thomson, RTS, poikiloderma, maʻi hoʻoilina, ʻulaʻula ʻili, nalowale o ka lauoho, pilikia o ka maʻi ʻaʻai