Kaitito: Gregory Harris
Tuhinga O Mua: 16 Paenga Whāwhā 2021
Rā Whakahou: 14 Mei 2024
Anonim
PTEN Whakamatau Tohu - Rongoā
PTEN Whakamatau Tohu - Rongoā

Toka Te Manawa

He aha te whakamatautau ira ira PTEN?

Ko te whakamatautau aa-ira a PTEN e rapu ana i tetahi whakarereketanga, e mohiotia ana ko te hurihanga, i roto i te ira e kiia ana ko PTEN. Ko te ira te waahanga taketake o te whakapapa i heke iho mai i to whaea me to papa.

Ma te ira PTEN e aukati i te tipu o nga puku. E mohiotia ana ko te pehanga puku. Ko te ira pehanga puku he rite ki nga pereki o te motuka. Ka waiho nga "frein" ki nga ruma, kia kore e tere te wehewehe. Mena he rereketanga iranga PTEN koe, ka tupu te tipu o nga pukupuku kore pukupuku e kiia ana ko te hamartomas. Ka taea e nga Hamartomas te whakaatu puta noa i te tinana. Ko te rereketanga ka arahi hoki ki te whanaketanga o nga pukupuku pukupuku.

Ka taea e nga maatua te whakarereke ira whakapapa PTEN, ka riro mai i muri mai i te taiao, mai i tetahi he ranei ka pa ki to tinana i te wa o te wehenga o te pūtau.

Ma te rereketanga o te PTEN ka mate ka mate te tini o nga mate hauora. Ko etahi o enei ka tiimata mai i te wa o te kohungahunga, o te kohungahunga ranei. Ko etahi e whakaatu ana i te pakeke. Ko enei mate ka whakarewahia ngatahi ka kiia ko te PTEN hamartoma syndrome (PTHS) ka uru atu ki:


  • Mate a Cowden, he mate e tupu ai te tipu o te maha o nga hamartomas me te whakanui i te maha o nga momo mate pukupuku, tae atu ki nga mate pukupuku o te u, te kopu, te toroone me te kopirua. Ko nga taangata e raru ana ki te mate o Cowden he nui ake te mahunga o te mahunga (macrocephaly), whakaroa whanaketanga, me / te autism ranei
  • Bannayan-Riley-Ruvalcaba mate ai hoki hamartomas me macrocephaly. Hei taapiri, ko nga taangata e pangia e tenei mate ka raru pea te ako me te autism ranei. Ko nga taane e pangia ana e te mate he hakihaki pouri kei runga i te ure.
  • Proteus or Proteus-rite syndrome ka nui ake te tupu o nga koiwi, te kiri, me etahi atu kiko, me te hamartomas me te macrocephaly.

Whiwhi (e mohiotia ana ko somatic) Ko nga rereketanga ira PTEN tetahi o nga rereketanga e kitea ana i te mate pukupuku tangata. Ko enei panoni kua kitea i roto i nga momo mate pukupuku maha, tae atu ki te mate pukupuku repeure, te mate pukupuku uterine, me etahi momo pukupuku roro.


Ko etahi ingoa: PTEN ira, taatai ​​ira katoa; PTEN raupapa me te mukunga / taarua

Hei aha te whakamahi?

Whakamahia ai te whakamatautau hei rapu mo te whakarereke ira ira PTEN. Ehara ko te whakamatautau noa. I te nuinga o te waa ka hoatuhia ki nga taangata e pa ana ki te hitori o te whanau, nga tohu, te tohu mate pukupuku o mua ranei, ina koa te mate pukupuku o te u, te tairoiro, te kopu ranei.

He aha i hiahiatia ai e au he whakamatautau ira ira PTEN?

Akene me hiahia to tamaiti ki te whakamatautau ira ira PTEN mena he hitori o to whanau he panui iranga PTEN me / tetahi ranei neke atu ranei o nga tikanga e whai ake nei ranei.

  • He maha nga hamartoma, ina koa i te rohe puku
  • Macrocephaly (he rahi ake i te upoko rahi te rahi)
  • Taihoa whanaketanga
  • Autism
  • Pekekawe pouri o te ure i roto i nga tane
  • Mate pukupuku pukupuku
  • Matepukupuku thyroid
  • Te mate pukupuku mate pukupuku i roto i nga uwha

Mena kua tohua koe he matepukupuku me te kore he hitori o te whanau o te mauiuitanga, ka whakahau pea to kaiwhakarato hauora tenei whakamatau kia kite mena kei te huri te PTEN i te mate pukupuku o to ira. Ma te mohio kei a koe te rereketanga ka taea e to kaiwhakarato te matapae me pehea te whanake o to mate me te arahi i to maimoatanga.


He aha te mahi i te wa o te whakamatau ira ira PTEN?

Ko te whakamatautau PTEN te tikanga he whakamatautau toto. I te wa e whakamatautauria ana te toto, ka tangohia e tetahi tohunga ngaio hauora tetahi tauira toto mai i te uaua i roto i to ringa, ma te whakamahi i te ngira iti. Whai muri i te kuhunga o te ngira, ka kohia he toto iti ki roto i te ipuipu, ipu ranei. Akene he iti to ngau ka puta te ngira ki waho ka puta atu ranei. Ko te tikanga ka iti ake i te rima meneti tenei.

Me mahi e au tetahi mea hei whakareri mo te whakamatautau?

Te tikanga kaore e hiahiatia etahi whakaritenga motuhake mo te whakamatautau PTEN.

He raru pea mo te whakamatautau?

He iti noa te tuponotanga ka tirohia o toto. Ka mamae pea koe, ka maru ranei koe i te waahi i maka ai te ngira, engari ko te nuinga o nga tohu ka tere wawe.

He aha te tikanga o nga hua?

Mena kua kitea i o kitenga he rereketanga to ira PTEN, ehara i te kii he mate pukupuku koe, engari he nui ake to tuponotanga i te nuinga o te iwi. Engari ko te nui o te tirotiro matepukupuku ka taea te whakaiti i to tuponotanga. He pai ake te whakaora i te mate pukupuku i te wa e kitea ana i nga timatanga. Mena kei a koe te rereketanga, ka taunaki pea to kaiwhakarato hauora kia kotahi, neke atu ranei o nga whakamatautau tirotirohanga e whai ake nei:

  • Colonoscopy, timata mai i te 35-40 tau
  • Mammogram, timata mai i nga tau 30 mo nga waahine
  • Nga whakamātautau-a-u mo nga wahine mo ia marama
  • Tau ia tau te tirotiro i te wahine mo te waahine
  • Te tirotiro tairoiro tau
  • Te tirotiro i te kiri o ia tau mo nga tipu
  • Te tirotiro tākihi i ia tau

Ko te tirotiro o te tau me te kiri e taunakihia ana mo nga tamariki he whakarereke ira ira PTEN.

Ako atu mo nga whakamatautau taiwhanga, awhe tohutoro, me te maarama ki nga hua.

He mea ano me mohio au mo te whakamatautau ira ira PTEN?

Mena kua tohua koe ki te huringa ira ira o te PTEN, ki te whakaaro ranei koe ki te whakamatautau, ka pai pea te korero ki tetahi kaitohutohu a-ira. Ko te kaitohutohu a-ira he tohunga ngaio whakangungu i roto i te whakapapa me te whakamatau ira. Mena kaore ano kia whakamatautauria koe, ka taea e te kaitohutohu te awhina i a koe ki te maarama ki nga raru me nga painga o te whakamatautau. Mena kua whakamatautauria koe, ka taea e te kaitohutohu te awhina i a koe ki te maarama ki nga hua ka arahi ia koe ki te tautoko i nga ratonga me etahi atu rauemi.

Tohutoro

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  2. American Cancer Society [Ipurangi]. Atlanta: American Cancer Society Inc. c2018. Nga Take Hauora o te Mate Mate Mate Mate thyroid; [whakahoutia 2017 Pepuere 9; whakahuahia 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.cancer.org/cancer/thyroid-cancer/causes-risks-prevention/risk-factors.html
  3. Mate pukupuku.Net [Ipurangi].Alexandria (VA): American Society of Clinical Oncology; c2005–2018. Cowden Syndrome; 2017 Oketopa [whakahua 2018 Jul 3]; [tata ki te 2 nga mata]. Wātea mai i: https://www.cancer.net/cancer-types/cowden-syndrome
  4. Mate pukupuku.Net [Ipurangi]. Alexandria (VA): American Society of Clinical Oncology; c2005–2018. Whakamatau Whakamatau mo te Mate Mate Mate Mate 2017 Jul [whakahuaia 2018 Jul 3]; [e 4 pea nga mata]. Wātea mai i: https://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/genetic-testing-cancer-risk
  5. Mate pukupuku.Net [Ipurangi]. Alexandria (VA): American Society of Clinical Oncology; c2005–2018. Te Umi Whakatuku me te Mate Mate Mate Ovarian; 2017 Jul [whakahuaia 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer
  6. Nga Pokapū mo te Whakahaere Mate me te Aukati [Ipurangi]. Atlanta: Te Tari Hauora me nga Ratonga Tangata a U.S. Te Aukati i te Mate Mate me te Whakahaere: Nga Whakamatau Tirohanga [whakahoutia 2018 Mei 2; whakahuahia 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.cdc.gov/cancer/dcpc/prevention/screening.htm
  7. Whare Hauora Tamariki o Philadelphia [Ipurangi]. Philadelphia: Te Whare Hauora Tamariki o Philadelphia; c2018. PTEN Hamartoma Tumor Syndrome [whakahua i te 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.chop.edu/conditions-diseases/pten-hamartoma-tumor-syndrome
  8. Dana-Farber Cancer Institute [Ipurangi]. Boston: Institute-Mate Mate Mate Mate; c2018. Nga Genetics Mate Mate me te Aarai: Cowden Syndrome (CS); 2013 Akuhata [cited 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.dana-farber.org/legacy/uploadedfiles/library/adult-care/treatment-and-support/centers-and-programs/cancer-genetics-and-prevention/cowden-syndrome.pdf
  9. Mayo Clinic: Mayo Medical Laboratories [Ipurangi]. Mayo Foundation mo te Whakaakoranga Hauora me te Rangahau; c1995–2018. ID Whakamatautau: BRST6: Mate Mate Mate Mate 6 Paewhaka Gene: Haumanu me te Whakamaori [i whakahuahia i te 2018 Jul 3]; [e 4 pea nga mata]. Wātea mai i: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/64332
  10. Mayo Clinic: Mayo Medical Laboratories [Ipurangi]. Mayo Foundation mo te Whakaakoranga Hauora me te Rangahau; c1995–2018. ID Whakamatautau: PTENZ: PTEN Whakapapa, Katoa Te Tauhokohoko Tohu: Haumanu me te Whakamaori [kua whakahuahia i te 2018 Jul 3]; [e 4 pea nga mata]. Wātea mai i: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/35534
  11. MD Anderson Te Whare Mate Mate [Ipurangi]. Te Whare Waananga o Texas MD Anderson Te Whare Mate Mate; c2018. Nga Kaitohutohu Mate Mate Hereditary [cited 2018 Jul 3]; [e 4 pea nga mata]. Wātea mai i: https://www.mdanderson.org/prevention-screening/family-history/hereditary-cancer-syndromes.html
  12. National Cancer Institute [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. Whakamatau Whakamatau mo nga Hainamana Mate Hinengaro [whakahua i te 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet
  13. National Cancer Institute [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. NCI Papakupu mo nga Tikanga Mate Mate: ira [whakahua 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
  14. National Heart, Lung, and Blood Institute [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. Nga Whakatautau Toto [cited 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.nhlbi.nih.gov/health-topics/blood-tests
  15. National Organization for Rare Disorder [Ipurangi]. Danbury (CT): National Organization for Rare Raruraru; c2018. PTEN Hamartoma Tumor Syndrome [whakahua i te 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome
  16. NeoGenomics [Ipurangi]. Fort Myers (FL): NeoGenomics Laboratories Inc. c2018. PTEN Mutation Analysis [whakahua i te 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://neogenomics.com/test-menu/pten-mutation-analysis
  17. NIH U.S. National Library of Medicine: Genetics Home Tohunga [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. Ira PTEN; 2018 Jul 3 [cited 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://ghr.nlm.nih.gov/gene/PTEN
  18. NIH U.S. National Library of Medicine: Genetics Home Tohunga [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. He aha te hurihanga o te ira me te aha e puta ai nga rereketanga ?; 2018 Jul 3 [cited 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://ghr.nlm.nih.gov/primer/mutationsanddisorder/genemutation
  19. Quest Diagnostics [Ipurangi]. Diagnostics Uiui; c2000–2017. Pokapū Whakamatau: Te Raupaputanga PTEN me te Whakakore / Taarua [kua whakahuahia i te 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=92566
  20. St. Jude Children's Research Hospital [Ipurangi]. Memphis (TN): St. Jude Children's Hospital Hospital; c2018. PTEN Hamartoma Tumor Syndrome [whakahua i te 2018 Jul 3]; [tata ki te 3 nga mata]. Wātea mai i: https://www.stjude.org/disease/pten-hamartoma-tumor-syndrome.html
  21. Whare Wananga o Rochester Medical Center [Ipurangi]. Rochester (NY): Whare Wananga o Rochester Medical Center; c2018. Encyclopedia Hauora: Mate Mate Mate: Te Whakamatau Tinana [cited 2018 Jul 3]; [tata ki te 2 nga mata]. Wātea mai i: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=34&contentid=16421-1

Ko nga korero kei tenei papaanga kaua e whakamahia hei whakakapi mo te tiaki ngaio ngaio, tohutohu ranei. Whakapa atu ki te kaiwhakarato hauora mena he paatai ​​taau mo to hauora.

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