Phenylketonuria (PKU) Tlhatlhobo

Litaba

• Teko ea tlhahlobo ea PKU ke eng?
• E sebelisetsoa eng?
• Hobaneng ha lesea la ka le hloka tlhahlobo ea tlhahlobo ea PKU?
• Ho etsahalang nakong ea tlhahlobo ea tlhahlobo ea PKU?
• Na ke tla hloka ho etsa eng kapa eng ho lokisetsa lesea la ka tlhahlobo.
• Na ho na le likotsi tsa tlhahlobo?
• Liphetho li bolelang?
• Na ho na le eng kapa eng eo ke hlokang ho e tseba ka tlhahlobo ea tlhahlobo ea PKU?
• Litšupiso

Teko ea tlhahlobo ea PKU ke eng?

Teko ea tlhahlobo ea PKU ke teko ea mali e fuoang masea a sa tsoa hlaha lihora tse 24-72 kamora ho hlaha. PKU e emetse phenylketonuria, lefu le sa tloaelehang le thibelang 'mele ho roba ntho e bitsoang phenylalanine (Phe) hantle. Phe ke karolo ea liprotheine tse fumanehang lijong tse ngata le sejoeng sa maiketsetso se bitsoang aspartame.

Haeba u na le PKU 'me u ja lijo tsena, Phe o tla tlala maling. Maemo a phahameng a Phe a ka senya tsamaiso ea methapo le boko ka ho sa feleng, a baka mathata a fapaneng a bophelo bo botle. Tsena li kenyelletsa ho oela, mathata a kelello, le bokooa bo matla ba kelello.

PKU e bakoa ke phetoho ea lefutso, phetoho ts'ebetsong e tloaelehileng ea lefutso. Liphatsa tsa lefutso ke likarolo tsa mantlha tsa lefutso tse fetisitsoeng ho tsoa ho mme le ntate oa hau. E le hore ngoana a fumane bokuli, mme le ntate ba tlameha ho fetisa phatsa ea lefutso ea PKU.

Le ha PKU e sa fumanehe, masea ohle a sa tsoa tsoaloa United States a kopuoa ho etsa tlhahlobo ea PKU.

• Teko e bonolo, ntle le kotsi ea bophelo bo botle. Empa e ka pholosa lesea ho tsoa tšenyo ea kelello bophelo bohle le / kapa mathata a mang a tebileng a bophelo bo botle.
• Haeba PKU e fumanoa kapele, ho latela lijo tse ikhethileng tse nang le protheine e tlase ho ka thibela mathata.
• Ho na le litlatsetso tse khethehileng tse etselitsoeng masea a nang le PKU.
• Batho ba nang le PKU ba hloka ho lula lijong tsa protheine / low-Phe bophelo bohle ba bona.

Mabitso a mang: Tlhatlhobo ea masea ea PKU, tlhahlobo ea PKU

E sebelisetsoa eng?

Ho sebelisoa tlhahlobo ea PKU ho bona hore na lesea le sa tsoa tsoaloa le na le maemo a phahameng a Phe maling. Sena se ka bolela hore lesea le na le PKU, 'me liteko tse ling li tla laeloa ho netefatsa kapa ho felisa tlhahlobo.

Hobaneng ha lesea la ka le hloka tlhahlobo ea tlhahlobo ea PKU?

Masea a sa tsoa tsoaloa United States a kopuoa ho etsa tlhahlobo ea PKU. Teko ea PKU hangata ke karolo ea letoto la liteko tse bitsoang tlhahlobo ea lesea le sa tsoa tsoaloa. Bana ba bang ba baholo le bana ba ka hloka liteko haeba ba amohetsoe ho tsoa naheng e ngoe, le / kapa haeba ba na le matšoao a PKU, a kenyeletsang:

• Nts'etsopele e liehang
• Mathata a kelello
• Monko o monate oa phefumoloho, letlalo le / kapa moroto
• Hlooho e nyane e sa tloaelehang (microcephaly)

Ho etsahalang nakong ea tlhahlobo ea tlhahlobo ea PKU?

Mofani oa tlhokomelo ea bophelo o tla hloekisa serethe sa ngoana oa hao ka joala 'me a phunya serethe ka nale e nyane. Mofani oa thepa o tla bokella marotholi a 'maloa a mali ebe o beha bandage setšeng.

Teko ha ea lokela ho etsoa kapele ho feta lihora tse 24 kamora ho hlaha, ho netefatsa hore lesea le nkile protheine, ekaba lebese la lebese kapa lebese le phofo. Sena se tla thusa ho netefatsa hore liphetho li nepahetse. Empa tlhahlobo e lokela ho etsoa lipakeng tsa lihora tse 24-72 kamora ho hlaha ho thibela mathata a ka bang teng a PKU. Haeba lesea la hau le sa hlahela sepetlele kapa u tlohile sepetlele pele ho nako, etsa bonnete ba hore u bua le mofani oa tlhokomelo ea bophelo ba ngoana oa hau ho hlophisa tlhahlobo ea PKU kapele kamoo ho ka khonehang.

Na ke tla hloka ho etsa eng kapa eng ho lokisetsa lesea la ka tlhahlobo.

Ha ho na litokisetso tse khethehileng tse hlokahalang bakeng sa tlhahlobo ea PKU.

Na ho na le likotsi tsa tlhahlobo?

Ho na le kotsi e nyane haholo ho lesea la hau ka tlhahlobo ea thupa ea nale. Lesea la hau le ka 'na la ikutloa le phunya hanyane ha serethe se ts'oaroa,' me ho ka hlaha leqeba le lenyane setšeng. Sena se lokela ho tloha kapele.

Liphetho li bolelang?

Haeba liphetho tsa lesea la hau li ne li sa tloaeleha, mofani oa tlhokomelo ea bophelo ba hau o tla odara liteko tse ling ho netefatsa kapa ho ntša PKU. Liteko tsena li ka kenyelletsa liteko tse ngata tsa mali le / kapa liteko tsa moroto. Uena le ngoana oa hau le ka fumana liteko tsa liphatsa tsa lefutso, kaha PKU ke boemo bo futsitsoeng.

Haeba liphetho li ne li tloaelehile, empa tlhahlobo e entsoe kapele ho feta lihora tse 24 ka mor'a hore ngoana a hlahe, ngoana oa hau a ka hloka ho hlahlojoa hape ha a le libeke tse 1 ho isa ho tse 2.

Ithute haholoanyane ka liteko tsa laboratori, libaka tsa litšupiso, le liphetho tsa kutloisiso.

Na ho na le eng kapa eng eo ke hlokang ho e tseba ka tlhahlobo ea tlhahlobo ea PKU?

Haeba ngoana oa hau a fumanoe a na le PKU, a ka noa lebese le se nang Phe. Haeba u ka rata ho anyesa, buisana le mofani oa tlhokomelo ea bophelo. Lebese la matsoele le na le Phe, empa ngoana oa hau a ka ba le palo e lekanyelitsoeng, a tlatsetsoa ke lebese le sa lefelloeng la Phe. Ho sa tsotelehe, ngoana oa hau o tla hloka ho lula lijong tse khethehileng tsa protheine bakeng sa bophelo bohle. Lijo tsa PKU hangata li bolela ho qoba lijo tse nang le protheine e ngata joalo ka nama, tlhapi, mahe, lebese, linate le linaoa. Sebakeng seo, lijo li kanna tsa kenyelletsa lijo-thollo, setache, litholoana, moemeli oa lebese le lintho tse ling tse nang le Phe e tlase kapa e se nang eona.

Mofani oa tlhokomelo ea bophelo ba ngoana oa hau a ka khothaletsa setsebi se le seng kapa ho feta le lisebelisoa tse ling ho u thusa ho laola lijo tsa lesea la hau le ho boloka ngoana oa hau a phetse hantle. Hape ho na le lisebelisoa tse fapaneng tse fumanehang ho bacha le batho ba baholo ba nang le PKU. Haeba u na le PKU, buisana le mofani oa tlhokomelo ea bophelo ka mekhoa e metle ea ho hlokomela litlhoko tsa hau tsa lijo le tsa bophelo bo botle.

Litšupiso

1. Mokhatlo oa Amerika oa Bokhachane [Inthanete]. Irving (TX): Mokhatlo oa Amerika oa Bokhachane; c2018. Phenylketonuria (PKU); [e ntlafalitsoeng 2017 Aug 5; e qotsitsoeng 2018 Jul 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: http://americanpregnancy.org/birth-defects/phenylketonuria-pku
2. PKU Network ea bana [Inthanete]. Encinitas (CA): PKU Network ea Bana; Pale ea PKU; [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 2]. E fumaneha ho tsoa ho: http://www.pkunetwork.org/Childrens_PKU_Network/What_is_PKU.html
3. Tlhakubele ea Dimes [Marang-rang]. Lithota tse Tšoeu (NY): Hlakubele ea Dimes; c2018. PKU (Phenylketonuria) ho Lesea la Hao; [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://www.marchofdimes.org/complications/phenylketonuria-in-your-baby.aspx
4. Mayo Clinic [Inthaneteng]. Motheo oa Mayo oa Thuto ea Bongaka le Patlisiso; c1998–2018. Phenylketonuria (PKU): Tlhahlobo le kalafo; 2018 Jan 27 [e qotsitsoeng ka 2018 Phupu 18]; [hoo e ka bang li-skrini tse 4]. E fumaneha ho tsoa ho: https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308
5. Mayo Clinic [Inthaneteng]. Motheo oa Mayo oa Thuto ea Bongaka le Patlisiso; c1998–2018. Phenylketonuria (PKU): Matšoao le lisosa; 2018 Jan 27 [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
6. Phetolelo ea Merck Manual Consumer [Inthanete]. Kenilworth (NJ): Merck & Co Inc .; c2018. Phenylketonuria (PKU); [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/phenylketonuria-pku
7. Mokhatlo oa Naha oa Kankere [Inthanete]. Bethesda (MD): Lefapha la Bophelo le Litšebeletso tsa Botho la U.S. Bukantswe ya NCI ya Dipehelo tsa Kankere: gene; [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
8. Selekane sa Naha sa PKU [Marang-rang]. Eau Claire (WI): Selekane sa Naha sa PKU. c2017. Mabapi le PKU; [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 2]. E fumaneha ho tsoa ho: https://npkua.org/Education/About-PKU
9. NIH Laeborari ea Naha ea Bongaka ea NIH U.S. Bethesda (MD): Lefapha la Bophelo le Litšebeletso tsa Botho la U.S. Phenylketonuria; 2018 Jul 17 [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://ghr.nlm.nih.gov/condition/phenylketonuria
10. NIH Laeborari ea Naha ea Bongaka ea NIH U.S. Bethesda (MD): Lefapha la Bophelo le Litšebeletso tsa Botho la U.S. Phetoho ea lefutso ke eng mme liphetoho li etsahala joang ?; 2018 Jul 17 [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
11. NORD: Mokhatlo oa Naha oa Mathata a Rare [Marang-rang]. Danbury (CT): NORD: Mokhatlo oa Naha oa Mathata a Rare; c2018. Phenylketonuria; [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://rarediseases.org/rare-diseases/phenylketonuria
12. Setsi sa Bongaka sa Rochester [Internet]. Rochester (NY): Setsi sa Bongaka sa Univesithi ea Rochester; c2018.Health Encyclopedia: Phenylketonuria (PKU); [e qotsitsoeng ka 2018 Phupu 18]; [li-skrini tse ka bang 2]. E fumaneha ho tsoa ho: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=pku
13. Bophelo ba UW [Marang-rang]. Madison (WI): Univesithi ea Wisconsin Lipetlele le Bolaoli ba Litleliniki; c2018. Tlhahisoleseling ea Bophelo: Teko ea Phenylketonuria (PKU): Kamoo e Utloang Kateng; [e ntlafalitsoeng 2017 May 4; e qotsitsoeng 2018 Jul 18]; [li-skrini tse ka bang 6]. E fumaneha ho tsoa ho: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41978
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15. Bophelo ba UW [Marang-rang]. Madison (WI): Univesithi ea Wisconsin Lipetlele le Bolaoli ba Litleliniki; c2018. Tlhahisoleseling ea Bophelo: Phenylketonuria (PKU) Teko: Tlhatlhobo ea Teko; [e ntlafalitsoeng 2017 May 4; e qotsitsoeng 2018 Jul 18]; [li-skrini tse ka bang 2]. E fumaneha ho tsoa ho: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41968
16. Bophelo ba UW [Marang-rang]. Madison (WI): Univesithi ea Wisconsin Lipetlele le Bolaoli ba Litleliniki; c2018. Tlhahisoleseling ea Bophelo: Teko ea Phenylketonuria (PKU): Seo U ka Nahanang ka Sona; [e ntlafalitsoeng 2017 May 4; e qotsitsoeng 2018 Jul 18]; [likhalase tse ka bang 10]. E fumaneha ho tsoa ho: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41983
17. Bophelo ba UW [Marang-rang]. Madison (WI): Univesithi ea Wisconsin Lipetlele le Bolaoli ba Litleliniki; c2018. Tlhahisoleseling ea Bophelo: Teko ea Phenylketonuria (PKU): Hobaneng e Etsoa; [e ntlafalitsoeng 2017 May 4; e qotsitsoeng 2018 Jul 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41973

Tlhahisoleseling e fumanehang sebakeng sena sa marang-rang ha ea lokela ho sebelisoa ho nka sebaka sa tlhokomelo ea bongaka le likeletso. Ikopanye le mofani oa tlhokomelo ea bophelo haeba u na le lipotso ka bophelo ba hau.