Na u tseba lefu le sa tloaelehang la liphatsa tsa lefutso le bitsoang Homocystinuria (HCU)? A re buisaneng ka lona!

Kajeno re tlo bua ka boemo boo re e-so utloe ka bona pele, empa ho bohlokoa haholo hore bohle ba bo tsebe. Sena se bitsoa Homocystinuria, kapa `(HCU)` ka bokhutšoanyane. Ka linako tse ling, ha lits'ebetso tse itseng tsa lik'hemik'hale tse etsahalang ka hare ho 'mele ea rona li sa tsamaee hantle, mathata a sa lebelloang a ka hlaha. Ena ke e 'ngoe ea maemo a joalo a bitsoang `(HCU)`. Se tšohe, ha re bueng ka sena habonolo.

Homocystinuria (HCU) ke eng?

Ka bokhutšoanyane, `(HCU)` ke lefu le sa tloaelehang la lefutso . Se etsahalang ho sena ke hore 'mele ea rona e ke ke ea laola amino acid `(Homocysteine)` hantle, ke hore, e ke ke ea e sebelisa le ho e tlosa. Ak'u nahane, ho etsahala'ng haeba lintho tse se nang thuso li bokellana 'meleng oa rona? Ka tsela eo feela, `(Homocysteine)` ena e bokellana ho sa hlokahale maling le morotong. Ho bokellana hona ho ka baka mathata a tebileng mahlong, tsamaisong ea masapo (lesapo la rona), tsamaisong ea methapo e bohareng (bokong le mokokotlong), le tsamaisong ea methapo ea mali (methapo ea mali). Joale u na le potso , li-amino acid tsena ke life? Li-amino acid ke motheo oa liprotheine. Feela joalokaha litene li hlokahala ho haha ​​​​moaho, li-amino acid lia hlokahala ho haha ​​​​liprotheine 'meleng oa rona. 'Mele oa rona o etsa karolo ea `(Homocysteine)` ena ho tsoa ho amino acid e 'ngoe e bitsoang `(Methionine)`. Hape, lijong tse nang le protheine e ngata tseo re li jang, mohlala, nama, litlhapi le mahe, re fumana `(Methionine)` e ngata. Ka tloaelo, 'mele oa rona o senya `(Methionine)` ena 'me oa e fetola `(Homocysteine)`. Leha ho le jwalo, mmeleng wa motho ya nang le `(Homocystinuria), enzyme e hlokahalang ho laola `(Homocysteine)` ena hantle, ke hore, ho e boloka boemong bo hlokahalang le ho fetola tse setseng, e a haella, kapa ha e sebetse hantle. Enzyme ke mofuta wa protheine e potlakisang diketso tsa dikhemikhale mmeleng wa rona. Kahoo ha enzyme ena e le siyo, boemo ba `(Homocysteine)` bo a eketseha.

Mefuta e meholo ea homocystinuria ke efe?

Bafuputsi ba arotse homocystinuria ka mefuta e 'maloa ho latela lisosa tsa lefutso tse ka sehloohong. Ho na le mefuta e 'meli e meholo:

1. Khaello ea Cystathionine beta-synthase (CBS) (Classical Homocystinuria)

Ena ke mofuta o tloaelehileng haholo oa homocystinuria. Cystathionine beta-synthase (CBS) ke enzyme e thusang ho fetola homocysteine ​​​​hore e be amino acid e 'ngoe, cysteine. Mofuta ona oa lefu o hlaha ha gene ea CBS e hlahisa enzyme ea CBS e nyane haholo kapa e sa hlahise letho, kapa ha enzyme ea CBS e sa sebetse hantle. Enzyme ea CBS e hloka vithamine B6, e tsejoang hape e le pyridoxine, hore e sebetse hantle. Mofuta ona o arotsoe ka ho eketsehileng ho latela hore na u arabela hantle hakae ho li-supplement tsa vithamine B6.

2. Bothata ba metabolism ea Cobalamin (cbl)

'Mele oa rona o hloka ho fetola karolo e itseng ea homocysteine ​​​​hore e be methionine. Ts'ebetso ena e kenyelletsa vithamine B12, e tsejoang hape e le cobalamin. 'Mele oa rona o feta mehatong e 'maloa ho fetola homocysteine ​​​​hore e be methionine. Homocystinuria, e bakoang ke khaello ea cobalamin, e etsahala ha 'mele o sa khone ho qeta mohato ona, o sa etse enzyme e nepahetseng, kapa o hlahisa lienzyme tse nang le sekoli.

Phapang ke efe pakeng tsa homocystinuria le Marfan syndrome?

Marfan syndrome ke lefu le sa tloaelehang la liphatsa tsa lefutso le amang lisele tse hokahaneng 'meleng oohle. Matšoao a mangata a lefu lena a tšoana le a homocystinuria. Mohlala, maoto a malelele, menoana e melelele, e mesesaane, lentis ea ectopia le myopia. Leha ho le joalo, Marfan syndrome e bakoa ke phetoho ea liphatsa tsa lefutso tsa Fibrillin-1 (FBN1). Batho ba nang le Marfan syndrome ba na le maemo a tloaelehileng a homocysteine ​​​​le methionine.

Ke mang ea angoang haholo ke boemo bona? Bo atile hakae?

Homocystinuria e bakoa ke phetoho ea liphatsa tsa lefutso. Kahoo mang kapa mang a ka e ba le eona. Leha ho le joalo, lithuto tse ling li bontšitse hore boemo bona bo ama batho linaheng tse ling ho feta tse ling. Linaha tsena ke:

• Ireland
• Norway
• Jeremane
• Qatar

Homocystinuria ke lefu le sa tloaelehang haholo la lefutso . Mofuta o tloaelehileng haholo oa lefu lena o ama batho ba pakeng tsa a le mong ho ba 200,000 le a le mong ho ba 335,000 lefatšeng ka bophara. Seo ha se tloaelehe haholo.

Matšoao a homocystinuria ke afe?

Matšoao a `(Homocystinuria)` a fapana ho latela mofuta oo u nang le oona. Hangata a qala ho hlaha lilemong tse 'maloa tsa pele tsa bophelo. Leha ho le joalo, batho ba bang ba kanna ba se be le matšoao ho fihlela ba le batho ba baholo. Mofuta o tloaelehileng haholo oa `(Homocystinuria)` hangata o ama litsamaiso tsena:

• Mahlo
• Sistimi ea masapo
• Sistimi ea methapo e bohareng
• Sistimi ea methapo ea mali

Matšoao a `(Homocystinuria)` a ka kenyelletsa:

Matšoao a amang mahlo:

• Lense ea leihlo e tloha boemong ba eona bo tloaelehileng (ectopia lentis). Sena se ka baka ho senyeha ha pono .
• Mahlo a sa boneng hantle (myopia), e leng ho bolelang ho se kgone ho bona hole.

Matšoao a amang tsamaiso ea masapo:

• Ho bontša kholo e feteletseng .
• Ho lelefatsa matsoho, maoto le menoana ka tsela e sa tloaelehang.
• Mangole a kobehile ka hare mme mangole aa kokota ha maoto a otlolohile (sena se boetse se bitswa "mangole a kokotang").
• Sefuba se tetebetse kahare kapa se hlahella pele.
• Ho kobeha ha lesapo la mokokotlo (scoliosis).
• Batho ba nang le homocystinuria le bona ba kotsing ea ho tšoaroa ke osteoporosis .

Matšoao a amang tsamaiso ea methapo e bohareng:

• Tieho ea kholo . Sena se bolela ho se bontše kholo ea kelello kapa ea 'mele e loketseng lilemo.
• Mathata a ho ithuta.

Matšoao a amang tsamaiso ea pelo le methapo ea mali:

• Kotsi e eketsehileng ea ho hoama ha mali. Ho hoama hona ha mali ho ka baka maemo a kotsi a kang stroke kapa pulmonary embolism.

Lisosa tsa homocystinuria ke life?

Mefuta e mengata ea homocystinuria e bakoa ke liphetoho tsa liphatsa tsa lefutso, kapa liphetoho tsa lefutso, liphatseng tse fapaneng tsa lefutso.

Lisosa tsa lefutso

Mofuta o tloaelehileng haholo oa `(Homocystinuria)` o bakoa ke phetoho ea liphatsa tsa lefutso tsa `(CBS)`. `(CBS)` ena e bolella 'mele ea rona mokhoa oa ho etsa enzyme e bitsoang `(Cystathionine beta-synthase)`. `(Homocystinuria)` ena e ikarabella bakeng sa tsela ea lik'hemik'hale e fetolang `(Homocysteine)` acid hore e be `(Methionine)`. `(Homocystinuria)` e ka boela ea bakoa ke liphetoho tsa liphatsa tsa lefutso tsa `(MTHFR)`, `(MTR)`, `(MTRR)` le `(MMADHC)`. Lijini tsena kaofela li ikarabella bakeng sa ho fetola `(Homocysteine)` acid hore e be `(Methionine). Haeba leha e le efe ea liphatsa tsena tsa lefutso e na le phetoho, enzyme e amehang ha e sebetse hantle. Ebe `(Homocysteine)` e qala ho bokellana 'meleng. Leha ho le joalo, bafuputsi ba ntse ba sa tsebe hantle hore na ke hobane'ng ha maemo a holimo a homocysteine ​​​​a baka matšoao a homocystinuria. U rua homocystinuria ka mokhoa oa autosomal recessive. Sena se bolela hore o tla futsa lefu lena haeba batsoali ba hao ka bobeli ba tlhaho, bao hangata ba se nang matšoao, ba fetisetsa lefutso le amehileng ho uena.

Na homocystinuria e ka bakoa ke khaello ea livithamine?

E, homocystinuria e ka boela ea hlaha ka lebaka la mabaka a seng a liphatsa tsa lefutso. Boemo bona bo ka boela ba bakoa ke khaello e matla ea vithamine B6, vithamine B9 (folate), kapa vithamine B12 (cobalamin).

Homocystinuria e fumanoa joang?

Linaheng tse kang United States, liteko tsa tlhahlobo ea masea a sa tsoa tsoaloa li sebelisetsoa ho hlahloba maemo a 'maloa a metabolism, ho kenyeletsoa le homocystinuria. Teko ea homocysteine ​​​​e lekanya maemo a homocysteine ​​​​le methionine maling a lesea la hao. Haeba liphetho tsa liteko li le ntle, ho bontša hore boemo bo ka ba teng, ngaka ea lesea la hao e tla laela liteko tse ling ho netefatsa liphetho. Leha ho le joalo, liteko tsena tsa masea a sa tsoa tsoaloa ha se kamehla li nepahetseng ka 100%. Ka linako tse ling li kanna tsa se khone ho lemoha maemo a itseng. Ka hona, batho ba bang ba fumanoa ba e-na le homocystinuria ka mor'a hore matšoao a hlahe. Le hoja matšoao a mangata a hlaha boseeng kapa bongoaneng ba pele, ka linako tse ling a ka hlaha botsofaling. Haeba u na le matšoao a `(Homocystinuria)`, ngaka ea hao e tla laela `(teko ea Homocysteine ​​​​​​)` ho netefatsa boemo. Haeba liphetho li bontša hore u na le `(homocystinuria ea khale)` (ke hore, khaello ea `(CBS)`), ngaka ea hao e tla laela tlhahlobo e 'ngoe ho fumana hore na u na le mofuta ofe oa mofuta. Sena se bitsoa `(phephetso ea vithamine B6)` . Teko ena e fumana hore na u arabela joang ho li-supplement tsa vithamine B6. Ngaka ea hau e ka u etsetsa moralo o nepahetseng oa kalafo. `(Classical homocystinuria)` e ka aroloa ka tsela e latelang:

• E arabela Vithamine B6: ' Mele oa hao o hlahisa enzyme e lekaneng ea ``(CBS)'', kahoo vithamine B6 e ka thusa enzyme eo ho sebetsa hantle.
• E arabela ka karolo e itseng ka vithamine B6: 'Mele oa hau o etsa karolo e itseng ea enzyme `(CBS)'', kahoo vithamine B6 e ka thusa ka karolo e itseng.
• Vithamine B6 ha e arabele: ' Mele oa hau ha o hlahise enzyme e lekaneng ea ``(CBS)'', kahoo vithamine B6 ha e na monyetla oa ho thusa enzyme.

Liteko tsa lefutso li ka lemoha liphetoho liphatseng tsa lefutso tse bakang homocystinuria. Leha ho le joalo, lingaka hangata ha li sebelise tsena hobane tlhahlobo ea homocysteine ​​​​e le eona feela e ka fumana boemo.

Mekhoa ea ho phekola homocystinuria ke efe?

Kalafo ea homocystinuria e kenyelletsa ho laola maemo a homocysteine ​​​​maling a hau le ho laola matšoao a hau. Hangata kalafo e kenyelletsa ho nka li-supplement tsa vithamine B6. Haeba u na le mofuta o arabelang vithamine B6 (classical homocystinuria), li-supplement tsa vithamine B6 li ka lekana ho theola le ho laola maemo a hau a homocysteine. Leha ho le joalo, haeba u na le mofuta o sa arabeleng kapa o arabelang ka karolo ho vithamine B6 (classical homocystinuria), li-supplement tsa vithamine B6 feela li kanna tsa se lekane. U ka 'na ua hloka likhetho tse ling tsa kalafo. Tsena li ka kenyelletsa:

• Moriana oa `(Betaine)` (Betaine) kapa `(Cystadane): `(Betaine)` o thusa ho fokotsa boemo ba `( Homocysteine )` maling a hao.
• Lijo tse khethehileng bakeng sa `(Homocystinuria)`: U tla tlameha ho latela lijo tse thibelang lijo tse nang le protheine le `(Methionine)`.
• Litlatsetso tse ling: Haeba o na le mofuta o mong oa homocystinuria, o kanna oa hloka ho nka litlatsetso tsa folate ( vithamine B9 ) kapa cobalamin ( vithamine B12 ).

Ntho ea bohlokoa ka ho fetisisa ke hore kalafo ena e lokela ho tsoela pele bophelo bohle . Ke ka tsela eo feela u ka laolang maemo a homocysteine ​​​​ea hao, ua fokotsa mathata, 'me ua phela bophelo bo botle.

U ka phela nako e kae ka homocystinuria?

Haeba ho fumanoa hore na motho o na le lefu lena esale pele 'me a phekoloa hantle bophelong bohle ba hae, bana ba bangata ba nang le Homocystinuria ba ka lebella ho phela bophelo bo tloaelehileng le bo phetseng hantle . Ka hona, ho fumanoa ha lefu lena esale pele le ho tsoela pele ka kalafo ho bohlokoa haholo.

Na homocystinuria e ka thibeloa?

Kaha ke boemo ba lefutso, homocystinuria e ke ke ea thibeloa. Leha ho le joalo, haeba u imme kapa u rera ho ba le ngoana nakong e tlang, ho bohlokoa ho bua le moeletsi oa liphatsa tsa lefutso. Keletso ea liphatsa tsa lefutso e ka u thusa ho utloisisa kotsi ea ho ba le ngoana ea nang le homocystinuria. Ho tloaelehile ho ikutloa u imetsoe ha u fumana hore uena kapa lesea la hao le na le boemo ba lefutso. Iphe nako ea ho ithuta sohle seo u ka se khonang ka homocystinuria. Ebe u fumana ngaka e utloisisang boemo ba hau ka botlalo. Ho sebetsa le setsebi sa metabolism ho ka u fa maikutlo a taolo. Ka ho ipha matla ka tlhahisoleseling le mehloli, u ka fihlela sephetho se setle ka ho fetisisa.

Qetellong, ntho ea bohlokoa ka ho fetisisa (Molaetsa oo u ka o isang hae)

Ho lokile, kahoo ke tšepa hore joale u utloisisa hamolemo seo re neng re bua ka sona (Homocystinuria). Lintho tse ling tsa bohlokoa tseo u lokelang ho li hopola ke tsena:

• `(Homocystinuria)` ke eng?Lefu le sa tloaelehang, empa le ka ’nang la e-ba kotsi ka lebaka la liphatsa tsa lefutso.
• Se etsahalang tabeng ena ke hore 'mele o sitoa ho laola k'hemik'hale e bitsoang ``Homocysteine'' hantle, 'me e bokellana 'meleng.
• Sena se ka baka mathata mahlong, masapong, tsamaisong ea methapo le methapong ea mali .
• Ntho ea bohlokoa ka ho fetisisa ke ho lemoha lefu lena esale pele le ho fumana kalafo e nepahetseng bophelong bohle ba hau . Haeba u etsa joalo, u ka phela bophelo bo tloaelehileng.
• Vithamine B6, lijo tse khethehileng, le meriana e meng ke mekhoa e ka sehloohong ea phekolo bakeng sa sena.
• Haeba o na le dipotso tse ding hape ka sena, kapa haeba ho na le motho ka lapeng la hao ya nang le matshwao ana, etsa bonnete ba hore o batla keletso ya bongaka.

Se tšohe, tsela e molemohali ea ho sebetsana le boemo bofe kapa bofe ba bongaka ke ho ba le tsebo e ntle ka bona. Homocystinuria, mafu a liphatsa tsa lefutso, homocysteine, li-amino acid, vithamine B6, vithamine B12, methionine