Mea Kākau: Clyde Lopez
Lā O Ka Hana: 17 Iulai 2021
HōʻAno Hou I Ka Lā: 16 Nowemapa 2024
Anonim
Congenital adrenal hyperplasia : Etiology ,Pathophysiology ,Clinical features ,Diagnosis ,Treatment
Wikiō: Congenital adrenal hyperplasia : Etiology ,Pathophysiology ,Clinical features ,Diagnosis ,Treatment

Anter

He aha ka hōʻike 17-hydroxyprogesterone (17-OHP)?

Ana kēia hōʻike i ka nui o 17-hydroxyprogesterone (17-OHP) i ke koko. 17-OHP kahi hōmona i hana ʻia e nā adrenal glands, ʻelua mau gland ma luna o nā puʻupaʻa. Hana nā ʻōpū adrenal i kekahi mau hormones, e like me cortisol. He mea nui ʻo Cortisol no ka mālama ʻana i ke koko, ke kō a me nā hana o ka ʻōnaehana pale. Hana ʻia ʻo 17-OHP ma ke ʻano he mahele o ke kaʻina hana o ka hana ʻana i ka cortisol.

Kōkua kahi hōʻike 17-OHP i ke kuhi hewa ʻana i kahi maʻi kūlohelohe i kapa ʻia ʻo hyperplasia adrenal congenital (CAH). I CAH, kahi loli kūlohelohe, ʻike ʻia ma ke ʻano he mutation, pale i ka gland adrenal mai ka hana ʻana i ka nui o ka cortisol. Ke hana ikaika nei nā ʻōpū adrenal e hana hou i ka cortisol, hana lākou i 17-OHP keu, a me kekahi mau homone kāne kāne.

Hiki i ka CAH ke hoʻoulu i nā hanana kino a me nā ʻano moekolohe. ʻO nā ʻōuli o ka maʻi mai ke akahai a i ʻole koʻikoʻi. Inā mālama ʻole ʻia, hiki i nā ʻano ʻoi loa o ka CAH ke hana i nā pilikia koʻikoʻi, e like me ka make wai, ke koko haʻahaʻa, a me nā puʻuwai puʻuwai (arrhythmia).


Nā inoa ʻē aʻe: 17-OH progesterone, 17-OHP

No ke aha ia e hoʻohana ai?

Hoʻohana pinepine ʻia kahi hōʻike 17-OHP e ʻike pono iā CAH i nā keiki hānau hou. Hoʻohana ʻia paha ia i:

  • Hōʻailona CAH i nā keiki makua a me nā mākua i loaʻa paha kahi ʻano milder o ka maʻi. I ka CAH māmā, hōʻike ʻia nā ʻōuli ma hope i ke ola, a i ʻole kekahi manawa ʻaʻole loa.
  • Nānā i ka mālama ʻana no CAH

No ke aha wau e pono ai i kahi hōʻike 17-OHP?

Pono kāu pēpē i kahi hoʻokolohua 17-OHP, ma waena o 1-2 mau lā ma hope o ka hānau ʻana. Koi ʻia ka 17-OHP no CAH e ke kānāwai ma ke ʻano he ʻāpana o ka loiloi hou hānau. ʻO kahi kānana hānau hou kahi hōʻike koko maʻalahi e nānā ai no nā ʻano maʻi ʻino.

Pono paha nā keiki ʻelemakule a me nā mākua i ka hoʻāʻo inā loaʻa iā lākou nā ʻōuli o CAH. E ʻokoʻa nā ʻōuli ma muli o ka nui o ka maʻi, ka makahiki ke ʻike ʻia nā hōʻailona, ​​a inā he kāne a wahine paha ʻoe.

Hōʻike pinepine ʻia nā ʻōuli o ke ʻano ʻoi loa o ka maʻi ma waena o 2-3 mau pule ma hope o ka hānau ʻana.

Inā hānau ʻia kāu pēpē ma waho o ʻAmelika Hui Pū ʻIa a ʻaʻole i loaʻa iā lākou kahi kānana hānau hou, pono paha lākou e hoʻāʻo inā loaʻa iā lākou kekahi a ʻoi paha o nā hōʻailona aʻe.


  • Nā genital ʻaʻole maopopo he kāne a wahine paha (ambiguous genitalia)
  • Make wai
  • ʻO ka luaʻi a me nā pilikia hānai ʻē aʻe
  • Nā ritme naʻau maʻamau (arrhythmia)

ʻAʻole loaʻa nā ʻōpio i nā ʻōuli a hiki i ka wā ʻōpio. I nā kaikamahine, hōʻailona nā CAH me:

  • Nā wā menstrual maʻamau, a ʻaʻohe wā ʻē aʻe
  • ʻO ka hele mua o ka lauoho pubic a me / a i ʻole ka lima
  • ʻO ka lauoho nui ma ka maka a me ke kino
  • Leo hohonu
  • Pākuʻi hoʻonui ʻia

I nā keikikāne, loaʻa pū nā hōʻailona:

  • Hoʻonui penis
  • ʻŌpio ʻōpio (precocious puberty)

I nā kāne a me nā wahine makua, hoʻopili ʻia nā ʻōuli:

  • Infertility (ka hiki ʻole ke hāpai a hāpai i kahi hoa hāpai)
  • Huehue koʻikoʻi

He aha ka hana i ka wā o ka hoʻāʻo 17-OHP?

No kahi kānana hānau hou, e hoʻomaʻemaʻe kahi ʻoihana olakino i kou kuʻekuʻe wāwae o kāu pēpē me ka waiʻona a kuʻi i ka kuʻekuʻe wāwae me kahi nila liʻiliʻi. E hōʻiliʻili ka mea hāʻawi i kahi mau kulu o ke koko a kau i kahi kaula ma ka pūnaewele.


I ka wā o kahi hoʻokolohua koko no nā keiki makua a me nā mākua, e lawe kahi loea mālama ola i kahi laʻana koko mai kahi aa i loko o kou lima, e hoʻohana ana i kahi nila liʻiliʻi. Ma hope o ka hoʻokomo ʻia ʻana o ka nila, e hōʻiliʻili ʻia kahi koko liʻiliʻi i loko o kahi pahu hoʻāʻo a ipu paha. Hiki paha iā ʻoe ke ʻoni iki i ka wā e hele ai a kuʻi paha ka nila. Lōʻihi kēia ma mua o ʻelima mau minuke.

Pono wau e hana i kekahi mea e hoʻomākaukau ai no ka hoʻāʻo?

ʻAʻohe hoʻomākaukau kūikawā e pono ai no kahi hōʻike 17-OHP.

Aia kekahi mau pilikia i ka hoʻāʻo?

Heʻuʻuku ka makaʻu iā ʻoe a i ʻole kāu pēpē me kahi hōʻike 17-OHP. Loaʻa paha iā ʻoe ka ʻeha a ʻeha paha ma kahi o ka nila i hoʻokomo ʻia ai, akā ʻo ka hapa nui o nā ʻōuli e hele wikiwiki aku. ʻIke paha kāu pēpē i kahi ʻuʻuku ke kuʻi ʻia ka kuʻekuʻe wāwae, a kū paha kahi ʻeha liʻiliʻi ma ka pūnaewele. E hele wikiwiki kēia.

He aha ke ʻano o nā hopena?

Inā hōʻike nā hualoaʻa i nā pae kiʻekiʻe o 17-OHP, malia paha ʻo ʻoe a ʻo kāu keiki ʻo CAH. ʻO ka maʻamau, ʻo nā kiʻekiʻe kiʻekiʻe loa ke ʻano o kahi ʻano ʻoi aku ke koʻikoʻi, ʻoiai nā pae kiʻekiʻe kiʻekiʻe maʻa mau.

Inā mālama ʻia ʻoe a ʻo kāu keiki paha no CAH, manaʻo paha nā pae haʻahaʻa o 17-OHP e hana nei ka lāʻau. Hiki i ka mālama ʻana ke hoʻopili i nā lāʻau e pani i ka nalo ʻana o ka cortisol. I kekahi manawa hana ʻia ke ʻoki e hoʻololi i ka helehelena a me ka hana o nā genital.

Inā he mau nīnau kāu e pili ana i kāu hopena a i ʻole nā ​​hopena o kāu keiki, e kamaʻilio me kāu kauka olakino.

E aʻo hou aʻe e pili ana i nā hoʻokolohua hoʻokolohua, nā pae kuhikuhi, a me ka hoʻomaopopo ʻana i nā hopena.

Aia kekahi mea ʻē aʻe e pono iaʻu e ʻike e pili ana i kahi hōʻike 17-OHP?

Inā ua ʻike ʻia ʻoe a ʻo kāu keiki paha me CAH, makemake paha ʻoe e kūkākūkā me ke kākāʻōlelo aʻoaʻo, he loea i hoʻomaʻamaʻa kūikawā ʻia i nā genetics. ʻO CAH kahi maʻi maʻi a kahi e pono ai i nā mākua ke hoʻololi i ka genetic e kumu iā CAH. Hiki i kahi makua ke lawe i ka ʻāpana, ʻo ia hoʻi he ʻāpana ko lākou akā ʻaʻohe o lākou mau hōʻailona o ka maʻi. Inā lawe nā mākua ʻelua, loaʻa i kēlā me kēia keiki he 25% manawa kūpono e loaʻa ai ke ʻano.

Nā kūmole

  1. Cares Foundation [Pūnaewele]. Union (NJ): Cares Foundation; c2012. He aha ka Congenital Adrenal Hyperplasia (CAH) ?; [i helu ʻia 2019 ʻAukake 17]; [ma kahi o 3 pale]. Loaʻa mai: https://www.caresfoundation.org/what-is-cah
  2. ʻO Eunice Kennedy Shriver National Institute of Health Child and Development Human [Pūnaewele]. Rockville (MD): Ke Keʻena ʻOihana Ola a U.S. Congenital Adrenal Hyperplasia (CAH): Ke ʻano o ke kūlana; [i helu ʻia 2019 ʻAukake 17]; [ma kahi o 3 pale]. Loaʻa mai: https://www.nichd.nih.gov/health/topics/cah/conditioninfo
  3. Pūnaewele Ola Hormone [Pūnaewele]. ʻAhahui Endocrine; c2019. Congenital Adrenal Hyperplasia; [hōʻano hou ʻia 2018 Sep; i helu ʻia ʻo 2019 Aug 17]; [ma kahi o 2 pale]. Loaʻa mai: https://www.hormone.org/diseases-and-conditions/congenital-adrenal-hyperplasia
  4. ʻO ke olakino kamaliʻi mai Nemours [Pūnaewele]. Jacksonville (FL): Ke Kulanui Nemours; c1995–2019. Congenital Adrenal Hyperplasia; [helu ʻia 2019 ʻAukake 17]; [ma kahi o 2 pale]. Loaʻa mai: https://kidshealth.org/en/father/congenital-adrenal-hyperplasia.html
  5. ʻO ke olakino kamaliʻi mai Nemours [Pūnaewele]. Jacksonville (FL): Ke Kulanui Nemours; c1995–2019. Nā Hōʻike ʻImi Hou Hou; [i helu ʻia 2019 ʻAukake 17]; [ma kahi o 2 pale]. Loaʻa mai: https://kidshealth.org/en/father/newborn-screening-tests.html
  6. Nā Hoʻokolohua Lab ma ka Pūnaewele [Pūnaewele]. Wakinekona D.C.; ʻAhahui ʻAmelika no ka Chemical Clinical; c2001–2019. 17-Hydroxyprogesterone; [hoʻohou 2018 Dec 21; i helu ʻia 2019 Aug 17]; [ma kahi o 2 pale]. Loaʻa mai: https://labtestsonline.org/tests/17-hydroxyprogesterone
  7. Nā Hoʻokolohua Lab ma ka Pūnaewele [Pūnaewele]. Wakinekona D.C.; ʻAhahui ʻAmelika no ka Chemical Clinical; c2001–2019. Infertility; [hoʻohou 2017 Nov 27; i helu ʻia 2019 Aug 17]; [ma kahi o 2 pale]. Loaʻa mai: https://labtestsonline.org/conditions/infertility
  8. Ka Papa ʻInikena Kanaka Makahiki [Pūnaewele]. Bethesda (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; Papa Kuhikuhi NCI o nā ʻōlelo maʻi ʻaʻai: kākāʻōlelo; [helu ʻia 2019 ʻAukake 17]; [ma kahi o 3 pale]. Loaʻa mai: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/794108
  9. National Center for Advancing Translations Science: Genetic and Rare Diseases Information Center [Pūnaewele]. Bethesda (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; 21-hydroxolase nele; [hoʻohou 2019 Apr 11; i helu ʻia 2019 Aug 17]; [ma kahi o 2 pale]. Loaʻa mai: https://rarediseases.info.nih.gov/diseases/5757/21-hydroxylase-deficiency
  10. ʻO ka Magic Foundation [Pūnaewele]. Warrenville (IL): Magic Foundation; c1989–2019. Congenital Adrenal Hyperplasia; [i helu ʻia 2019 ʻAukake 17]; [ma kahi o 4 pale]. Loaʻa mai: https://www.magicfoundation.org/Growth-Disorders/Congenital-Adrenal-Hyperplasia
  11. Malaki o nā Dime [Pūnaewele]. Arlington (VA): Malaki o nā Dime; c2020. Nā hoʻāʻo loiloi hou no kāu pēpē; [i helu ʻia 2020 ʻAukake 8]; [ma kahi o 3 pale]. Loaʻa mai: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
  12. UF Health: Ke Kulanui o Florida Health [Pūnaewele]. Gainesville (FL): Ke Kula Nui o Florida; c2019. 17-OH progesterone: Nānā Hou; [hoʻohou 2019 Aug 17; i helu ʻia 2019 Aug 17]; [ma kahi o 2 pale]. Loaʻa mai: https://ufhealth.org/17-oh-progesterone
  13. UF Health: Ke Kulanui o Florida Health [Pūnaewele]. Gainesville (FL): Ke Kula Nui o Florida; c2019. ʻO ka hyperplasia adrenal adrenal: Overview; [hoʻohou 2019 Aug 17; i helu ʻia ʻo 2019 Aug 17]; [ma kahi o 2 pale]. Loaʻa mai: https://ufhealth.org/congenital-adrenal-hyperplasia

ʻAʻole pono e hoʻohana i ka ʻike ma kēia pūnaewele i pani no ka mālama olakino ʻoihana a ʻōlelo aʻoaʻo paha. Kāhea aku i ka mea mālama ola inā he nīnau kāu e pili ana i kou olakino.

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