Ua ʻike anei ʻoe i ka Cowden Syndrome? E kamaʻilio maʻalahi kākou e pili ana!

Ua ʻike anei ʻoe i nā puʻupuʻu liʻiliʻi ʻē aʻe e hana ana ma kou kino? A i ʻole ua lohe paha ʻoe ua loaʻa i kekahi o kou ʻohana ka maʻi kanesa i ka wā ʻōpiopio loa. I kekahi manawa aia kahi maʻi genetic kakaikahi ma hope o kēia mau mea. ʻO kekahi o ia ʻano maʻi ʻo Cowden Syndrome. E kamaʻilio anei kākou e pili ana i kēia me nā kikoʻī hou aku i kēia lā?

He aha ka Cowden Syndrome?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaʻikahi ka maʻi Cowden i hoʻoili ʻia ma o kā mākou mau genes. ʻOi aku ka nui o ka poʻe me kēia maʻi e ulu i nā ulu ʻaʻole cancerous, e like me ka tumor. Eia nō naʻe, ʻoi aku ka nui o ko lākou pilikia o ka ulu ʻana i kekahi mau ʻano maʻi kanesa.

Pehea ka maʻamau o kēia?

ʻAʻole maoli. He mea kākaʻikahi loa kēia maʻi, i kapa ʻia ʻo Cowden Syndrome. Wahi a nā loea lapaʻau, hoʻopilikia ia ma kahi o hoʻokahi i loko o ʻelua haneli tausani kānaka. Eia nō naʻe, i kekahi manawa ʻaʻole ʻike maopopo ʻia kona mau hōʻailona, ​​​​no laila hiki ke hele ʻole me ka ʻike ʻole ʻia.

No laila, he maʻi kanesa anei ʻo Cowden Syndrome?

ʻAʻole, ʻaʻole ka maʻi kanesa ʻo Cowden syndrome. Eia nō naʻe, ʻoi aku ka nui o ka poʻe me kēia maʻi e loaʻa i kekahi mau ʻano maʻi kanesa , a hiki nō hoʻi iā lākou ke ulu i ka wā ʻōpiopio ma mua o ka maʻamau (early-onset) . ʻO ke ʻano o ka 'Early-onset' ʻo ia hoʻi ka ulu ʻana o ka maʻi i ka wā ʻōpiopio ma mua o ka maʻamau. No ka laʻana, hiki i kahi wahine me Cowden syndrome ke loaʻa i ka maʻi kanesa umauma ma mua o 40 mau makahiki. ʻAʻole ʻike pinepine ʻia ka maʻi kanesa umauma ma mua o 60 mau makahiki. Aia kekahi mau ʻano maʻi kanesa ʻē aʻe e pili ana paha me kēia maʻi:

• Ka maʻi ʻaʻai Endometrial (ka maʻi ʻaʻai uterine)
• ʻO ke kanesa thyroid (ʻoi aku ke ʻano i kapa ʻia ʻo 'follicular thyroid cancer')
• Ka maʻi ʻaʻai colorectal
• Ka maʻi ʻaʻai puʻupaʻa
• ʻO Melanoma, kahi maʻi ʻili

He aha ka ʻokoʻa ma waena o ka Cowden Syndrome a me ka PTEN hamartoma tumor syndrome?

He kumuhana hohonu iki kēia, akā e mālama maʻalahi wau. ʻO ka 'PTEN hamartoma tumor syndrome (PHTS)' kahi hui o nā hōʻailona hoʻoilina i hoʻokumu ʻia e nā loli (mutations) i loko o ka gene 'PTEN'. Ma kahi o hoʻokahi o ka poʻe ʻehā me ka Cowden syndrome i ʻike ʻia he mutation kēia i loko o ka gene 'PTEN'.

Eia nō naʻe, no ka mea ua like loa nā hōʻailona o nā mea ʻelua, inā loaʻa iā ʻoe ka maʻi Cowden a i ʻole kahi maʻi like, e mālama kāu kauka iā ʻoe me he mea lā he PHTS kāu. ʻO kēia no ka mea he mea nui nā nānā mua a pinepine no ka maʻi kanesa i nā mea ʻelua.

He aha nā hōʻailona o ka Cowden Syndrome?

Hoʻomaka pinepine nā hōʻailona o kēia ʻano i ke kino i ka makahiki 20. ʻIke wale kekahi poʻe he Cowden syndrome ko lākou ke ʻimi lākou i ke aʻo lapaʻau, ma muli paha o nā puʻupuʻu i kapa ʻia ʻo hamartomas a i ʻole ma muli o ke kanesa e ulu ana i ka wā ʻōpiopio.

ʻO Hamartomas (i kapa ʻia ʻo 'ha-ma-to-mas') ka hiʻohiʻona maʻamau a koʻikoʻi o ka maʻi Cowden. He mau ulu ʻaʻole ia he maʻi kanesa, e like me ka puʻupuʻu. Hiki iā lākou ke ulu ma nā wahi āpau o ke kino, ma loko a ma waho. Loaʻa pinepine lākou ma ka ʻāʻī, ka maka, a me ke poʻo.

Aia kekahi mau hōʻailona ʻē aʻe:

• ʻO ke poʻo i ʻoi aku ka nui ma mua o ka maʻamau (macrocephaly) .
• Nā puʻupuʻu liʻiliʻi a laumania ma ka ʻili (trichilemmomas).
• Nā puʻupuʻu maopopo e like me ka pehu ma nā kapuwaʻi o nā wāwae, nā poho lima, a me ke kua o nā lima (acral keratosis).
• Nā ulu ʻana e like me ka wart ma ke alelo, nā ʻāʻī, ke kua o ka puʻu, a me nā tonsils ('oral papillomatosis').

Akā he mea nui e hoʻomanaʻo i kēia: ʻOiai inā loaʻa iā ʻoe kekahi o kēia mau hōʻailona, ​​ʻaʻole ia he manaʻo he Cowden syndrome kou. Manaʻo pinepine nā kauka i ke kūlana inā loaʻa iā ʻoe ka hui pū ʻana o kēia mau hōʻailona kikoʻī .

He aha ke kumu o ka Cowden Syndrome?

Hoʻokumu ʻia ka maʻi Cowden e kekahi mau hoʻololi genetic āu e hoʻoilina ai. I ka ʻōlelo maʻalahi, hoʻomalu nā genes i ke ʻano o ka ulu ʻana o nā cell i loko o ko mākou kino, māhele, a make. I ka maʻi Cowden, ma muli o kahi kīnā i loko o kēia mau genes, ulu nā cell maʻamau ʻole i waho o ka mana a hoʻomau i ka wā e pono ai. I ka hopena, hui pū kēia mau cell e hana i nā tumors ʻaʻole cancerous i kapa ʻia ʻo hamartomas.

Ke noiʻi nei nā kānaka ʻepekema i nā loli genetic e hoʻonui ai i ka pilikia o kēia maʻi kanesa, nā genes e pili ana me ka maʻi Cowden. ʻAʻohe mutation o kekahi poʻe me ka maʻi Cowden i ka gene `PTEN`. I loko o kahi heluna liʻiliʻi o ka poʻe, ua loaʻa nā mutations i nā genes ʻē aʻe, e like me `PIK3CA/AKT1`, `SDHB-D`, `KLLN` a me `SEC23B`. No laila, ke hoʻomau nei nā mea noiʻi lapaʻau i ka nānā ʻana i kēia.

Pehea e hoʻoili ʻia ai kēia ma o nā hanauna?

Hoʻoilina ka poʻe me ka maʻi Cowden i ke kūlana ma ke ʻano "autosomal dominant pattern." ʻO ia hoʻi, hoʻoilina ʻoe i kahi gene maʻamau mai kekahi o kou mau mākua olaola a me kahi gene mutated mai kekahi makua ʻē aʻe. ʻO ia hoʻi, he 50% ka manawa kūpono o kēlā me kēia keiki e hoʻoilina i ka gene mutated.

He aha nā kumu pilikia no ka Cowden Syndrome?

ʻO ka moʻolelo ʻohana wale nō ka mea nui i ʻike ʻia. ʻO ke ʻano kēia, inā loaʻa i kekahi o kou ʻohana ka maʻi Cowden, ʻoi aku ka nui o kou manawa e loaʻa ai.

He aha nā pilikia e hiki mai ana o kēia maʻi?

Inā loaʻa iā ʻoe ka maʻi Cowden, aia ʻoe i ka nui o ka pilikia o ka loaʻa ʻana o kekahi mau ʻano maʻi kanesa. Eia kekahi, hiki iā ʻoe ke loaʻa i ka maʻi kanesa i ka wā ʻōpiopio , a i ʻole ma mua o hoʻokahi ʻano maʻi kanesa i kou wā e ola ana.Hiki ke hana ʻia i nā manawa like ʻole, no laila he mea nui e kamaʻilio me kāu kauka e pili ana i ka manawa a me ka pinepine e pono ai ʻoe e loaʻa i nā hoʻokolohua kanesa.

Pehea e ʻike ai nā kauka i ka Cowden Syndrome?

He maʻi paʻakikī ka maʻi Cowden me nā hōʻailona he nui a me nā kūlana pili. ʻOiai inā loaʻa iā ʻoe kekahi a ʻoi aku paha o kēia mau hōʻailona, ​​ʻaʻole ia he manaʻo he maʻi Cowden kou.

No ka ʻike ʻana i ka maʻi Cowden, hoʻohālikelike nā kauka i kou kūlana i nā pae hoʻohālikelike i hoʻomohala ʻia e nā kauka loea i nā maʻi kanesa hoʻoilina. Ma kēia kaʻina hana, hoʻohālikelike ʻia kou kūlana me nā pae nui a me nā pae liʻiliʻi . Ua ʻike ʻia ʻoe me ka maʻi Cowden inā loaʻa iā ʻoe kahi hui kikoʻī o kēia mau pae.

Hiki i nā kauka ke manaʻo he Cowden syndrome kou inā:

• Ma waho aʻe o ke 'macrocephaly' (poʻo nui), aia ʻekolu mau kumu nui .
• Loaʻa i hoʻokahi pae nui a i ʻole ʻekolu mau pae liʻiliʻi .
• Loaʻa iā ʻoe ʻehā mau pae hoʻohālikelike liʻiliʻi .
• Loaʻa i kekahi o kou ʻohana ka maʻi Cowden a i ʻole kahi maʻi pili e like me Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Nā Kūlana no ka Cowden Syndrome

Eia kekahi o nā kumu nui a me nā kumu liʻiliʻi a nā kauka e noʻonoʻo ai:

Nā pae hoʻohālikelike nui:

• Ka maʻi ʻaʻai umauma
• Ka maʻi ʻaʻai endometrial
• Ka maʻi ʻaʻai thyroid follicular
• Loaʻa nā hamartomas he nui i loko o ke ala gastrointestinal (GI)
• Macrocephaly - (ʻoi aku ka nui o ke anapuni o ke poʻo ma mua o kahi waiwai i manaʻo ʻia)
• ʻO ke alo o nā kiko ʻeleʻele (macules pigmented) ma ka glans penis
• Ke lawe ʻia kahi ʻāpana ʻili a nānā ʻia (biopsied), hōʻike ia i nā hōʻailona o kahi 'trichilemmoma'
• Loaʻa ka nui o ka ʻili mānoanoa (palmoplantar keratosis) ma nā lima a me nā wāwae
• Loaʻa ka nui o nā ulu e like me ka wart ('papillomatosis') i loko o ka waha (mucosal waha)
• Ka nui o nā puʻupuʻu e like me ka wart ('papules') ma ka ʻili o ka maka ('cutaneous facial')

Nā pae hoʻohālikelike liʻiliʻi:

• Ka maʻi ʻaʻai kolona
• ʻO ka esophageal glycogenic acanthosis (he kūlana kūikawā kēia e kū mai ana i loko o ka esophagus)
• Ka maʻi autism spectrum
• Nā kīnā aʻo
• Ka maʻi ʻaʻai thyroid papillary
• Nā pilikia thyroid (e.g. goiters, adenomas)
• Ka maʻi ʻaʻai puʻupaʻa
• Nā puʻupuʻu momona (`Lipomas`)
• Loaʻa hoʻokahi 'hamartoma' i loko o ka ʻōnaehana hoʻoheheʻe
• Nā waihona momona i loko o nā testicles ('Testicular lipomatosis')

Inā manaʻo kāu kauka he Cowden syndrome kou, e nīnau ʻo ia e pili ana i kou mōʻaukala ʻohana a hiki paha ke kauoha i ka hoʻāʻo genetic e ʻike inā he mutation genetic kou.

He aha kāu e hana ai inā manaʻo ʻoe he maʻi kou?

Inā loaʻa iā ʻoe kēia mau hōʻailona, ​​​​he mea nui e ʻike i kahi loea genetics no ka ʻōlelo aʻoaʻo . A laila hiki iā lākou ke hoʻoholo inā pono ʻoe e hana i nā mea e like me ka hoʻāʻo ʻana i ka gene PTEN. Hiki iā lākou ke kuhikuhi iā ʻoe i kahi kākāʻōlelo genetic . Hiki i ke kākāʻōlelo genetic ke kōkua iā ʻoe e hoʻomaopopo pehea e hoʻopilikia ai nā kūlana genetic e like me ka hoʻololi ʻana o PTEN iā ʻoe. Hiki iā lākou ke wehewehe i nā hopena o ka hoʻāʻo genetic a me nā nānā ʻana i ka maʻi kanesa āu e pono ai inā loaʻa iā ʻoe ka PTEN hamartoma tumor syndrome (PHTS). No ka mea he ʻano kakaikahi ka maʻi Cowden, he manaʻo maikaʻi e ʻimi i kahi hui a i ʻole kikowaena i loea i ka PHTS a me ka maʻi Cowden.

Pehea e mālama ai nā kauka i ka Cowden Syndrome?

ʻO ka maʻi Cowden kahi maʻi e pili ana i nā ʻano maʻi like ʻole, me nā pilikia ʻili a me ke kanesa. I ka manawa pinepine, ʻike ka poʻe he maʻi Cowden ko lākou i ka wā e mālama ʻia ai lākou no kekahi maʻi ʻē aʻe e pili ana i ka maʻi.

Eia nō naʻe, he mea nui no ka poʻe me ka maʻi Cowden, akā ʻaʻole i loaʻa i ka maʻi kanesa i kēia manawa , e hana i nā hoʻokolohua maʻamau a mua hoʻi no ka maʻi kanesa . Eia kekahi mau laʻana:

• No ke kanesa o ka umauma: E hoʻomaka ana nā mammograms makahiki i ka makahiki 30. Hiki ke ʻōlelo ʻia nā scan magnetic resonance imaging (MRI) no ka poʻe me nā umauma paʻa.
• No ke kanesa thyroid: Hoʻomaka ka ultrasound thyroid i kēlā me kēia makahiki i ka makahiki 7. Eia nō naʻe, inā loaʻa iā ʻoe nā hōʻailona (e.g., kahi nodule thyroid, paʻakikī i ka moni ʻana), pono paha ʻoe e hana i kēia mau hoʻokolohua ma mua.

Pēlā nō, hiki i kāu kauka ke ʻōlelo i ka nānā ʻana no nā ʻano maʻi ʻē aʻe (e like me ka uterine, ka maʻi puʻupaʻa, ka maʻi colon) i nā manawa maʻamau, ma muli o kou kūlana pilikino.

He aha kāu e manaʻo ai i ka wā e noho ai me kēia maʻi?

Inā loaʻa iā ʻoe ka maʻi Cowden, e kōkua kāu kākāʻōlelo genetic iā ʻoe e hoʻomaopopo i nā hopena o kāu hoʻāʻo genetic. Inā hōʻike kāu hoʻāʻo genetic ua loaʻa iā ʻoe ka PTEN hamartoma tumor syndrome (PHTS), e wehewehe pū lākou i nā hoʻāʻo kanesa āu e pono ai. He ʻōpio paha kou makahiki ma mua o ke kanaka maʻamau .Pono paha ʻoe e hoʻomaka e loaʻa i kēia mau hoʻokolohua maʻi kanesa. Eia nō naʻe, ma ka loaʻa ʻana o kēia mau hoʻokolohua i nā manawa a pau, hiki iā ʻoe ke ʻike i ka maʻi kanesa ma mua o kou loaʻa ʻana o nā hōʻailona.

He aha ke kūlana o ke ola no ka poʻe me ka Cowden Syndrome?

ʻO ke ola e manaʻo ʻia me ka maʻi Cowden e pili ana i kou kūlana pilikino. No ka laʻana, inā ua ʻike ʻia ʻoe me ka maʻi ʻaʻai umauma i kou wā ʻōpiopio a ua pālahalaha ia, ʻoi aku ka pōkole o kou ola ma mua o ka mea i ʻike mua ʻia me ka maʻi ʻaʻai a mālama ʻia. Eia nō naʻe, ʻo ka loaʻa ʻana o nā nānā ʻana i ka maʻi ʻaʻai i ʻōlelo ʻia e hiki ke kōkua iā ʻoe e pale i ka ulu ʻana o ka maʻi ʻaʻai, a i ʻole e hopu iā ia i ka wā mua i ka wā hiki ke mālama ʻia.

Pehea wau e mālama ai iaʻu iho? / Pehea ʻoe e mālama ai iaʻu iho?

Inā loaʻa iā ʻoe ka maʻi Cowden, he mea nui e loaʻa nā hoʻokolohua maʻamau e hiki ai ke ʻike i ke kanesa ma mua o kou loaʻa ʻana o nā hōʻailona. E nīnau i kāu kauka inā he mau hōʻailona kikoʻī āu e makaʻala ai he kanesa paha. Inā loaʻa iā ʻoe ka maʻi Cowden, e nīnau i kāu kākāʻōlelo genetic inā pono nā lālā ʻē aʻe o ka ʻohana e loaʻa i ka hoʻāʻo genetic.

Pono anei au e ʻike i ke kauka? / Pono anei ʻoe e ʻike i ke kauka?

ʻAe, ʻoiaʻiʻo nō. ʻO ka maʻi Cowden, ʻoiai inā ua ʻike ʻia ʻoe me ka "germline PTEN mutation" a i ʻole "PTEN hamartoma tumor syndrome (PHTS)," e pili ana me nā ʻano maʻi kanesa he nui. E nānā pono kāu hui lapaʻau i kou olakino holoʻokoʻa a me nā hopena o nā hoʻokolohua maʻi kanesa maʻamau.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka? / He aha nā nīnau āu e pono ai e nīnau aku i kāu kauka?

He manaʻo maikaʻi e nīnau i nā nīnau e like me kēia ke ʻike ʻoe i kāu kauka:

• "Ua loaʻa iaʻu kekahi ʻano maʻi kanesa ma muli o kēia maʻi. Hiki iaʻu ke loaʻa i nā ʻano maʻi kanesa ʻē aʻe?"
• "Hōʻike nā hoʻokolohua genetic ua loaʻa iaʻu kahi gene 'PTEN' i loli. Pono anei e hoʻāʻo ʻia ke koena o koʻu ʻohana no kēia gene?"
• "Hiki anei i kēia kūlana ke hoʻopilikia i kaʻu mau keiki i ka wā e hiki mai ana?"
• "He Cowden syndrome koʻu, akā ʻaʻohe oʻu ʻano loli ʻo `PTEN`. No laila he aha nā loli ʻē aʻe o ka genetic e hiki ai ke hana i kēia?"
• "Hōʻike nā hoʻokolohua genetic he gene mutated koʻu e hoʻoulu ai i ka maʻi Cowden. E lilo anei kēlā i mea e loaʻa ai iaʻu ka maʻi kanesa?"

He maʻi hoʻoilina laha ʻole ka maʻi Cowden syndrome i paʻakikī ke ʻike. ʻOi aku ka maikaʻi o ka ʻike ʻana i kahi geneticist e ʻike pono ai inā loaʻa iā ʻoe ka PTEN hamartoma tumor syndrome (PHTS). A laila hiki i kāu mau kauka ke hoʻolālā i kahi hoʻolālā lapaʻau i kūpono i kou kūlana. I kekahi manawa, inā ʻaʻole loaʻa i ka hoʻāʻo genetic ka mutation PTEN, pono paha ʻoe e loaʻa i kekahi mau hoʻokolohua like ʻole e kāpae i nā kūlana ʻē aʻe. E alakaʻi kāu kākāʻōlelo genetic iā ʻoe i ka mea e hana ai ma hope.

Hiki ke lilo i manaʻo weliweli ke ʻike he hewa kekahi mea i kou kino, akā ʻaʻole ʻoe i ʻike i ke ʻano o ia mea a i ʻole ka mea e hana ai e pili ana i ia mea. Inā ʻike ʻoe he Cowden syndrome kou, pono ʻoe e noho me ka ʻike e hiki iā ʻoe ke loaʻa i nā ʻano maʻi kanesa like ʻole no ke koena o kou ola. ʻOiai ʻoe i ʻike he mau hoʻokolohua e hiki ke ʻike i ka maʻi kanesa ma mua o ka puka ʻana o nā hōʻailona, ​​hiki i ka manaʻo ke weliweli maoli. Inā loaʻa iā ʻoe kēia ʻano, e nānā mau ana kāu hui lapaʻau i kou olakino a me nā hopena hoʻokolohua. E hana wikiwiki lākou e mālama i ka maʻi kanesa ma mua o ka laha ʻana. No laila, he mea nui e wiwo ʻole, e hahai i ka ʻōlelo aʻo a kāu kauka, a e loaʻa nā nānā maʻamau.

I ka hōʻuluʻulu ʻana i nā mea āpau (Leka Lawe-Home)

ʻAe, e nānā kākou i kekahi o nā mea nui e pono ai ʻoe e hoʻomanaʻo mai nā mea a mākou i kamaʻilio ai:

• He ʻano laha ʻole ka Cowden Syndrome e hoʻoulu ai i nā puʻupuʻu ʻaʻole maʻi kanesa (hamartomas) e hana i loko o ke kino, a me ka piʻi ʻana o ka pilikia o ka hoʻomohala ʻana i kekahi mau ʻano maʻi kanesa (ʻoi aku ka maʻi umauma, thyroid, a me ka maʻi ʻōpū).
• ʻAʻole kēia he maʻi kanesa pololei, akā he mea nui loa ka hana ʻana i nā hoʻokolohua maʻamau ma muli o ka pilikia o ka maʻi kanesa .
• ʻOkoʻa nā hōʻailona. ʻO nā mea nui he poʻo nui (macrocephaly) a me nā puʻupuʻu kikoʻī ma ka ʻili a me ka waha. ʻAʻole pono kēia mau hōʻailona wale nō e hōʻike i ke alo o ka maʻi, a ua hana ʻia ka ʻike ma muli o nā kūlana lapaʻau.
• Hoʻopili pinepine ʻia kēia kūlana me nā loli i loko o ka gene `PTEN`. He mea nui loa ka hoʻāʻo ʻana i ka genetic a me ke aʻoaʻo ʻana i ka genetic i kēia.
• ʻO ke kumu nui o ka mālama ʻana, ʻo ia ka ʻike mua ʻana a me ka mālama ʻana i ke kanesa . No laila, e kiʻi i nā hoʻokolohua (mammograms, ultrasounds, a me nā mea ʻē aʻe) i ʻōlelo ʻia e kāu kauka i ka manawa kūpono.
• Inā he kānalua kou e pili ana i kēia maʻi, a inā paha he mau hōʻailona kēia i loko o kou ʻohana, mai kānalua e ʻike i ke kauka a e ʻimi i ka ʻōlelo aʻo. He mea nui loa ka hoʻomaopopo ʻia a hana i ka wā mua.

E hoʻomanaʻo, hiki ke paʻakikī ke ola me kēia maʻi, akā me ka nānā pono ʻana a me ke kākoʻo lapaʻau, hiki iā ʻoe ke hoʻokele iā ia. ʻAʻole ʻoe hoʻokahi.

ʻO Cowden Syndrome, Nā Maʻi Genetic, Ka Pōpilikia o ke Kanesa, PTEN Gene, Nā Puʻupuʻu ʻIli, Hematoma, Nā Maʻi Hoʻoilina, Hoʻāʻo ʻana i ke Kanesa