Mawallafi: Clyde Lopez
Ranar Halitta: 17 Yuli 2021
Sabuntawa: 16 Nuwamba 2024
Anonim
Congenital adrenal hyperplasia : Etiology ,Pathophysiology ,Clinical features ,Diagnosis ,Treatment
Video: Congenital adrenal hyperplasia : Etiology ,Pathophysiology ,Clinical features ,Diagnosis ,Treatment

Wadatacce

Menene gwajin 17-hydroxyprogesterone (17-OHP)?

Wannan gwajin yana auna adadin 17-hydroxyprogesterone (17-OHP) a cikin jini. 17-OHP wani sinadari ne wanda gland adrenal ya samar, gland ne guda biyu dake saman koda. Glandar adrenal suna yin homon da yawa, gami da cortisol. Cortisol yana da mahimmanci don kiyaye hawan jini, sukarin jini, da wasu aiyuka na tsarin garkuwar jiki. 17-OHP an sanya shi a matsayin ɓangare na aiwatar da samar da cortisol.

Gwajin 17-OHP na taimakawa wajen gano wata cuta ta asali da ake kira congenital adrenal hyperplasia (CAH). A cikin CAH, canjin yanayin, wanda aka sani da maye gurbi, yana hana glandon adrenal yin isasshen cortisol. Yayinda glandon adrenal ke aiki tukuru don samar da karin cortisol, suna samar da karin 17-OHP, tare da wasu kwayoyin halittar jima'i na maza.

CAH na iya haifar da ci gaban mahaukaci na gabobin jima'i da halayen jima'i. Kwayar cututtukan ta rikice daga mai sauƙi zuwa mai tsanani. Idan ba a kula da su ba, siffofin da suka fi tsanani na CAH na iya haifar da rikitarwa mai tsanani, gami da rashin ruwa a jiki, ƙaran jini, da bugun zuciya mara kyau (arrhythmia).


Sauran sunaye: 17-OH progesterone, 17-OHP

Me ake amfani da shi?

Ana amfani da gwajin 17-OHP mafi yawa don tantance CAH a cikin jarirai. Hakanan ana iya amfani dashi don:

  • Binciken CAH a cikin yara da tsofaffi waɗanda ƙila za su iya samun saukin matsalar. A cikin sauƙin CAH, bayyanar cututtuka na iya nunawa daga baya a rayuwa, ko wani lokacin sam.
  • Kula da kulawa ga CAH

Me yasa nake buƙatar gwajin 17-OHP?

Jaririn ku zai buƙaci gwajin 17-OHP, yawanci a tsakanin kwanaki 1-2 bayan haihuwa. 17-OHP gwajin don CAH yanzu doka ta buƙaci ɓangare na aikin binciken jariri. Binciken sabon haihuwa shine gwajin jini mai sauƙi wanda ke bincika nau'ikan cututtuka masu tsanani.

Ananan yara da manya na iya buƙatar gwaji idan suna da alamun CAH. Kwayar cutar za ta banbanta gwargwadon irin yadda cutar ta kasance, da shekarun da alamomin suka bayyana, kuma ko namiji ne ko mace.

Kwayar cututtukan cututtukan mafi yawanci suna nunawa tsakanin makonni 2-3 bayan haihuwa.

Idan an haife jaririn ku a wajen Amurka kuma bai sami sabon gwajin ba, suna iya buƙatar gwaji idan suna da ɗaya ko fiye daga cikin alamun:


  • Al'aurar da ba a bayyane take ba ta namiji ko ta mace (shubuha mara kyau)
  • Rashin ruwa
  • Amai da sauran matsalolin ciyarwa
  • Heartwayar zuciya mara kyau (arrhythmia)

Yaran da suka manyanta ba za su iya samun alamun cutar ba har sai sun balaga. A cikin 'yan mata, alamun CAH sun haɗa da:

  • Lokacin al'ada ba al'ada, ko babu lokaci
  • Farkon bayyanar al'aura da / ko gashin hannu
  • Yawan gashi a fuska da jiki
  • Murya mai zurfi
  • Ciwon ciki

A cikin yara maza, bayyanar cututtuka sun haɗa da:

  • Kara girman azzakari
  • Balagar farko (lokacin balaga)

A cikin manya maza da mata, alamun cututtuka na iya haɗawa da:

  • Rashin haihuwa (rashin iya yin ciki ko samun juna biyu)
  • Mai tsananin kuraje

Menene ya faru yayin gwajin 17-OHP?

Don gwajin haihuwa, ƙwararren masanin kiwon lafiya zai tsabtace diddige jaririnku tare da barasa da kuma nuna diddige tare da ƙaramin allura. Mai ba da sabis ɗin zai tattara dropsan digo na jini ya sanya bandeji akan shafin.


Yayin gwajin jini ga manyan yara da manya, wani kwararren mai kula da lafiya zai dauki samfurin jini daga jijiyar da ke hannunka, ta amfani da karamin allura. Bayan an saka allurar, za a tara karamin jini a cikin bututun gwaji ko kwalba. Kuna iya jin ɗan kaɗan lokacin da allurar ta shiga ko fita. Wannan yawanci yakan dauki kasa da minti biyar.

Shin zan bukaci yin komai don shirya wa gwajin?

Babu wasu shirye-shirye na musamman da ake buƙata don gwajin 17-OHP.

Shin akwai haɗari ga gwajin?

Akwai ƙananan haɗari a gare ku ko jaririn ku tare da gwajin 17-OHP. Kuna iya samun ɗan ciwo ko rauni a wurin da aka sanya allurar, amma yawancin alamun suna tafi da sauri. Yarinyarki na iya jin ɗan tsunki idan an dusar da diddige, kuma karamin rauni na iya tashi a wurin. Wannan ya kamata ya tafi da sauri.

Menene sakamakon yake nufi?

Idan sakamako ya nuna babban matakin 17-OHP, da alama kai ko yaronka yana da CAH. Mafi yawan lokuta, matakai masu girma suna nufin mafi tsananin yanayin yanayin, yayin da matsakaitan matakan matsakaici yawanci yakan zama mai sauƙi.

Idan ku ko yaron ku ana kula da CAH, ƙananan matakan 17-OHP na iya nufin maganin yana aiki. Jiyya na iya haɗawa da magunguna don maye gurbin ɓoyayyen cortisol. Wani lokaci ana yin tiyata don canza kamanni da aikin al'aura.

Idan kuna da tambayoyi game da sakamakonku ko sakamakon ɗanku, yi magana da mai ba ku kiwon lafiya.

Learnara koyo game da gwaje-gwajen gwaje-gwaje, jeri na tunani, da fahimtar sakamako.

Shin akwai wani abin da nake buƙatar sani game da gwajin 17-OHP?

Idan ku ko yaron ku an gano ku tare da CAH, kuna iya tuntuɓar mai ba da shawara game da kwayar halitta, ƙwararren ƙwararren masani kan ilimin halittar jini. CAH cuta ce ta kwayar halitta wanda dole ne iyaye biyu su sami canjin yanayin da ke haifar da CAH. Iyaye na iya zama mai ɗauke da kwayar halitta, wanda ke nufin suna da kwayar amma yawanci ba su da alamun cutar. Idan iyayen biyu masu ɗauka ne, kowane ɗa yana da damar 25% na samun wannan yanayin.

Bayani

  1. Gidauniyar Cares [Intanet]. Union (NJ): Gidauniyar Cares; c2012. Mene ne Haɗaɗɗen Hannun Jiki (CAH) ?; [aka ambata a cikin 2019 Aug 17]; [game da fuska 3]. Akwai daga: https://www.caresfoundation.org/what-is-cah
  2. Eunice Kennedy Shriver Cibiyar Kiwon Lafiyar Yara da Ci gaban Dan Adam [Intanet]. Rockville (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Hanyar Haihuwar Haihuwar Hyperplasia (CAH): Bayanin Halin; [aka ambata a cikin 2019 Aug 17]; [game da fuska 3]. Akwai daga: https://www.nichd.nih.gov/health/topics/cah/conditioninfo
  3. Hanyar Sadarwar Lafiya ta Hormone [Intanet]. Endungiyar Endocrine; c2019. Hanyar Haihuwar Haihuwa; [sabunta 2018 Sep; da aka ambata 2019 Aug 17]; [game da allo 2]. Akwai daga: https://www.hormone.org/diseases-and-conditions/congenital-adrenal-hyperplasia
  4. Kiwan Yara daga Nauyi [Intanet]. Jacksonville (FL): Gidauniyar Nemours; c1995–2019. Hanyar Haihuwar Haihuwa; [aka ambata a cikin 2019 Aug 17]; [game da allo 2]. Akwai daga: https://kidshealth.org/en/parents/congenital-adrenal-hyperplasia.html
  5. Kiwan Yara daga Nauyi [Intanet]. Jacksonville (FL): Gidauniyar Nemours; c1995–2019. Jarrabawar Gwanin Haihuwa; [aka ambata a cikin 2019 Aug 17]; [game da allo 2]. Akwai daga: https://kidshealth.org/en/parents/newborn-screening-tests.html
  6. Gwaje-gwajen Lab a kan layi [Intanet]. Washington D.C; Americanungiyar (asar Amirka don Kimiyyar Clinical; c2001–2019. 17-Hydroxyprogesterone; [sabunta 2018 Dec 21; da aka ambata 2019 Aug 17]; [game da allo 2]. Akwai daga: https://labtestsonline.org/tests/17-hydroxyprogesterone
  7. Gwaje-gwajen Lab a kan layi [Intanet]. Washington D.C; Americanungiyar (asar Amirka don Kimiyyar Clinical; c2001–2019. Rashin haihuwa; [sabunta 2017 Nuwamba 27; da aka ambata 2019 Aug 17]; [game da allo 2]. Akwai daga: https://labtestsonline.org/conditions/infertility
  8. Cibiyar Cancer ta Kasa [Intanet]. Bethesda (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; NCI Dictionary of Terms of Cancer Terms: mai ba da shawara kan kwayoyin halitta; [aka ambata a cikin 2019 Aug 17]; [game da fuska 3]. Akwai daga: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/794108
  9. Cibiyar Kasa don Inganta Kimiyyar Fassara: Cibiyar Bayar da Cututtuka Game da Halitta da Rare [Intanet]. Bethesda (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; 21-hydroxolase rashi; [sabunta 2019 Apr 11; da aka ambata 2019 Aug 17]; [game da allo 2]. Akwai daga: https://rarediseases.info.nih.gov/diseases/5757/21-hydroxylase-deficiency
  10. Gidauniyar Sihiri [Intanet]. Warrenville (IL): Gidauniyar Sihiri; c1989–2019. Hanyar Haifa Haifa; [aka ambata a cikin 2019 Aug 17]; [game da fuska 4]. Akwai daga: https://www.magicfoundation.org/Growth-Disorders/Congenital-Adrenal-Hyperplasia
  11. Maris na Dimes [Intanet]. Arlington (VA): Maris na Dimes; c2020. Gwajin Gwanin Jariri Ga Jariri; [wanda aka ambata a cikin 2020 Aug 8]; [game da fuska 3]. Akwai daga: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
  12. Kiwan lafiya na UF: Kiwon Lafiya na Jami'ar Florida [Intanet]. Gainesville (FL): Jami'ar Florida Lafiya; c2019. 17-OH progesterone: Bayani; [sabunta 2019 Aug 17; da aka ambata 2019 Aug 17]; [game da allo 2].Akwai daga: https://ufhealth.org/17-oh-progesterone
  13. Kiwan lafiya na UF: Kiwon Lafiya na Jami'ar Florida [Intanet]. Gainesville (FL): Jami'ar Florida Lafiya; c2019. Hanyar haihuwar jini hyperplasia: Bayani; [sabunta 2019 Aug 17; da aka ambata 2019 Aug 17]; [game da allo 2]. Akwai daga: https://ufhealth.org/congenital-adrenal-hyperplasia

Ba za a yi amfani da bayanan da ke wannan rukunin yanar gizon a madadin madadin ƙwararrun likitocin ko shawara ba. Tuntuɓi mai ba da kiwon lafiya idan kuna da tambayoyi game da lafiyarku.

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