Ngaba uyayazi isifo esingaqhelekanga semfuza esibizwa ngokuba yiHomocystinuria (HCU)? Makhe sithethe ngaso!

Namhlanje siza kuthetha ngemeko esingazange siyive ngaphambili, kodwa kubaluleke kakhulu ukuba wonke umntu azi ngayo. Oku kubizwa ngokuba yiHomocystinuria, okanye `(HCU)` ngamafutshane. Ngamanye amaxesha, xa iinkqubo ezithile zeekhemikhali ezenzeka emzimbeni wethu zingahambi kakuhle, iingxaki ezingalindelekanga zinokuvela. Le yenye yeemeko ezibizwa ngokuba yi`(HCU)`. Musa ukoyika, masithethe ngayo ngokulula.

Yintoni iHomocystinuria (HCU)?

Ngamafutshane, `(HCU)` sisifo esingaqhelekanga semfuza . Okwenzekayo koku kukuba umzimba wethu awukwazi ukulawula ngokufanelekileyo i-amino acid `(Homocysteine)`, oko kukuthi, awukwazi ukuyisebenzisa nokuyisusa. Khawucinge, kwenzeka ntoni ukuba izinto ezingenamsebenzi ziqokelelana emzimbeni wethu? Kanye ngaloo ndlela, le `(Homocysteine)` iqokelelana ngokungeyomfuneko egazini nasemchameni. Oku kuqokelelana kunokubangela iingxaki ezinkulu emehlweni, kwinkqubo yamathambo (amathambo ethu), kwinkqubo yemithambo-luvo ephakathi (ingqondo kunye nomgogodla), kunye nenkqubo yemithambo-luvo (imithambo yegazi). Ngoku unombuzo , zeziphi ezi amino acids? Ii-amino acids zezona zinto ziphambili zokwakha iiproteni. Njengokuba izitena zifuneka ukwakha isakhiwo, ii-amino acids ziyafuneka ukwakha iiproteni emzimbeni wethu. Umzimba wethu wenza inxalenye yale `(Homocysteine)` kwenye i-amino acid ebizwa ngokuba yi `(Methionine)`. Kwakhona, ekutyeni okuneeproteni ezininzi esikutyayo, umzekelo, inyama, intlanzi, namaqanda, sifumana `(Methionine)` engaphezulu. Ngokwesiqhelo, umzimba wethu uyayiqhekeza le `(Methionine)` uze uyiguqule ibe yi `(Homocysteine)`. Nangona kunjalo, emzimbeni womntu one-`(Homocystinuria), i-enzyme efunekayo ukulawula ngokufanelekileyo le `(Homocysteine)`, oko kukuthi, ukuyigcina ikwinqanaba elifunekayo nokutshintsha okuseleyo, ayikho, okanye ayisebenzi kakuhle. I-enzyme luhlobo lweproteni olukhawulezisa ukusabela kweekhemikhali emzimbeni wethu. Ngoko ke xa le enzyme ingekho, inqanaba le-`(Homocysteine)` liyakhula.

Ziziphi iintlobo eziphambili ze-homocystinuria?

Abaphandi bahlukanise i-homocystinuria kwiintlobo ezahlukeneyo ngokusekwe kwizizathu zemfuza. Kukho iintlobo ezimbini eziphambili:

1. Ukunqongophala kwe-Cystathionine beta-synthase (CBS) (i-Classical Homocystinuria)

Olu lolona hlobo luqhelekileyo lwe-homocystinuria. I-Cystathionine beta-synthase (CBS) yi-enzyme enceda ukuguqula i-homocysteine ​​​​ibe yi-amino acid enye, i-cysteine. Olu hlobo lwesifo lwenzeka xa i-gene ye-CBS ivelisa i-enzyme ye-CBS encinci kakhulu okanye ingasebenzi kakuhle, okanye xa i-enzyme ye-CBS ingasebenzi kakuhle. I-enzyme ye-CBS ifuna i-vitamin B6, ekwaziwa ngokuba yi-pyridoxine, ukuze isebenze kakuhle. Olu hlobo lwahlulwe ngakumbi ngokwendlela ophendula ngayo kwizongezo ze-vitamin B6.

2. Isiphene semetabolism seCobalamin (cbl)

Umzimba wethu kufuneka uguqule inxalenye ye-homocysteine ​​​​ibe yi-methionine. Le nkqubo ibandakanya i-vitamin B12, ekwaziwa ngokuba yi-cobalamin. Umzimba wethu udlula kumanyathelo aliqela ukuguqula i-homocysteine ​​​​ibe yi-methionine. I-Homocystinuria, ebangelwa kukungabikho kwe-cobalamin, yenzeka xa umzimba ungakwazi ukugqiba eli nyathelo, ungenzi i-enzyme echanekileyo, okanye uvelisa ii-enzymes ezineziphene.

Yintoni umahluko phakathi kwe-homocystinuria kunye ne-Marfan syndrome?

I-Marfan syndrome sisifo esingaqhelekanga semfuza esichaphazela izicwili zomzimba wonke. Iimpawu ezininzi zale ngxaki zifana nezo ze-homocystinuria. Umzekelo, amalungu amade, iminwe emide, ebhityileyo, i-ectopia lentis, kunye ne-myopia. Nangona kunjalo, i-Marfan syndrome ibangelwa kukuguquka kwejini ye-Fibrillin-1 (FBN1). Abantu abane-Marfan syndrome banamanqanaba aqhelekileyo e- homocysteine ​​​​kunye ne-methionine.

Ngubani ochaphazeleka kakhulu yile meko? Ixhaphake kangakanani?

I-Homocystinuria ibangelwa kukuguquka kwezakhi zofuzo. Ngoko ke nabani na angayihlakulela. Nangona kunjalo, ezinye izifundo zibonise ukuba le meko ichaphazela abantu kwamanye amazwe ngaphezu kwamanye. La mazwe ngala:

• Ayalend
• Norowe
• Jemani
• Khwatha

I-Homocystinuria sisifo esingaqhelekanga kakhulu esibangelwa yimfuza . Uhlobo oluqhelekileyo lwesi sifo luchaphazela umntu omnye kubantu abangama-200,000 kunye nomnye kubantu abangama-335,000 kwihlabathi liphela. Oko kunqabile kakhulu.

Ziziphi iimpawu ze-homocystinuria?

Iimpawu ze-`(Homocystinuria)` ziyahluka ngokuxhomekeke kuhlobo onalo. Zihlala ziqala ukubonakala kwiminyaka embalwa yokuqala yobomi. Nangona kunjalo, abanye abantu basenokungabi nazo naziphi na iimpawu de babe badala. Uhlobo oluqhelekileyo lwe-`(Homocystinuria)` ludla ngokuchaphazela ezi nkqubo:

• Amehlo
• Inkqubo yamathambo
• Inkqubo ye-nervous ephakathi
• Inkqubo yemithambo yegazi

Iimpawu ze-`(Homocystinuria)` zingabandakanya:

Iimpawu ezichaphazela amehlo:

• Ilensi yeliso iyasuka kwindawo yayo eqhelekileyo (i-ectopia lentis). Oku kunokubangela ukuphazamiseka kokubona .
• Ukubona okuphazamisekileyo kakhulu (myopia), oko kuthetha ukungakwazi ukubona kude.

Iimpawu ezichaphazela inkqubo yamathambo:

• Ukubonisa ukukhula okugqithisileyo .
• Ukwandiswa okungaqhelekanga kweengalo, imilenze, kunye neminwe.
• Amadolo agobile ngaphakathi kwaye amadolo ayangqubana xa imilenze ithe tye (oku kukwabizwa ngokuba yi-"knock knees").
• Isifuba sitshone ngaphakathi okanye sivele phambili.
• Ukugoba komqolo (i-scoliosis).
• Abantu abane-homocystinuria nabo basengozini yokuba ne -osteoporosis .

Iimpawu ezichaphazela inkqubo ye-nervous central:

• Ukulibaziseka kokukhula . Oku kuthetha ukungabonisi uphuhliso lwengqondo okanye lomzimba olufanelekileyo ngokweminyaka.
• Ubunzima bokufunda.

Iimpawu ezichaphazela inkqubo yentliziyo:

• Umngcipheko ophezulu wokuqhekeka kwegazi. La mahlwili egazi anokubangela iimeko eziyingozi ezifana nestroke okanye i-pulmonary embolism.

Zithini izizathu ze-homocystinuria?

Iintlobo ezininzi ze-homocystinuria zibangelwa lutshintsho lwezakhi zofuzo, okanye utshintsho, kwiijini ezahlukeneyo.

Izizathu zofuzo

Uhlobo oluqhelekileyo lwe-`(Homocystinuria)` lubangelwa kukuguquka kwejini ye-`(CBS)`. Le jini ye-`(CBS)` ixelela umzimba wethu indlela yokwenza i-enzyme ebizwa ngokuba yi-`(Cystathionine beta-synthase)`. Le enzyme inoxanduva lwendlela yekhemikhali eguqula i-`(Homocysteine)` acid ibe yi-`(Methionine)`. `(Homocystinuria)` inokubangelwa kukuguquka kwejini ye-`(MTHFR)`, `(MTR)`, `(MTRR)` kunye ne-`(MMADHC)`. Zonke ezi jini zinoxanduva lokuguqula i-`(Homocysteine)` acid ibe yi-`(Methionine). Ukuba nayiphi na kwezi jini inokuguquka, i-enzyme efanelekileyo ayisebenzi kakuhle. Emva koko i-`(Homocysteine)` iqala ukuqokelelana emzimbeni. Nangona kunjalo, abaphandi abakaqiniseki ngokupheleleyo ukuba kutheni amanqanaba aphezulu e-homocysteine ​​​​ebangela iimpawu ze-homocystinuria. Ufumana i-homocystinuria kwipatheni ye-autosomal recessive. Oku kuthetha ukuba uza kusifumana esi sifo kuphela ukuba bobabini abazali bakho bemvelo, abadla ngokungabi nazimpawu, badlulisela kuwe i-gene echaphazelekayo.

Ngaba i-homocystinuria inokubangelwa kukunqongophala kweevithamini?

Ewe, i-homocystinuria inokubakho ngenxa yezizathu ezingezizo ezemfuza. Le meko inokubangelwa kukunqongophala okukhulu kwevithamini B6, ivithamini B9 (folate), okanye ivithamini B12 (cobalamin).

Ifunyanwa njani iHomocystinuria?

Kumazwe afana ne-United States, uvavanyo lokuhlolwa kweentsana ezisandul’ ukuzalwa lusetyenziselwa ukuvavanya iimeko ezahlukeneyo ze-metabolic, kuquka i-homocystinuria. Uvavanyo lwe-homocysteine ​​​​lulinganisa amanqanaba e-homocysteine ​​​​kunye ne-methionine egazini lomntwana wakho. Ukuba iziphumo zovavanyo zilungile, nto leyo ebonisa ukuba imeko isenokuba ikhona, ugqirha womntwana wakho uya kuyalela iimvavanyo ezongezelelweyo ukuqinisekisa iziphumo. Nangona kunjalo, ezi vavanyo zeentsana ezisandul’ ukuzalwa azisoloko zichanekile ngokupheleleyo. Ngamanye amaxesha zisenokungakwazi ukubona iimeko ezithile. Ke ngoko, abanye abantu bafunyanwa bene-homocystinuria emva kokuba iimpawu zivele. Nangona iimpawu ezininzi zivela ebuntwaneni okanye ebuntwaneni, ngamanye amaxesha zinokuvela ebudaleni. Ukuba uneempawu ze-`(Homocystinuria)`, ugqirha wakho uya kuyalela i-`(Homocysteinuria ​​​​uvavanyo)` ukuqinisekisa imeko. Ukuba iziphumo zibonisa ukuba une-`(classical homocystinuria)` (oko kukuthi, `(CBS)` ukusilela), ugqirha wakho uya kuyalela olunye uvavanyo ukuze afumanise ukuba loluphi uhlobo onalo. Oku kubizwa ngokuba yi-`(vitamin B6 challenge)` . Olu vavanyo lufumanisa indlela ophendula ngayo kwizongezo ze-vitamin B6. Ugqirha wakho angakwenzela isicwangciso sonyango esifanelekileyo. `(Classical homocystinuria)` inokwahlulwa ngolu hlobo lulandelayo:

• I-Vitamin B6-responsive: Umzimba wakho wenza i-enzyme ``(CBS)'' eyaneleyo, ngoko ke i-vitamin B6 inokunceda loo enzyme isebenze ngokufanelekileyo.
• Isabela kancinci kwivithamini B6: Umzimba wakho wenza isixa esithile se-enzyme ``(CBS)'', ngoko ke ivithamini B6 inokunceda kancinci.
• I-Vitamin B6-ayiphenduli: Umzimba wakho awuvelisi ngokwaneleyo i-enzyme ``(CBS)'', ngoko ke i-vitamin B6 ayinakunceda i-enzyme.

Uvavanyo lwemfuza lunokufumanisa utshintsho kwiimfuza ezibangela i-homocystinuria. Nangona kunjalo, oogqirha abasoloko besebenzisa ezi zinto kuba uvavanyo lwe-homocysteine ​​​​lodwa lunokufumanisa imeko.

Ziziphi iindlela zonyango lwe-homocystinuria?

Unyango lwe-homocystinuria lubandakanya ukulawula amanqanaba e-homocysteine ​​​​egazini lakho kunye nokulawula iimpawu zakho. Unyango luhlala lubandakanya ukuthatha izongezo ze-vitamin B6. Ukuba unohlobo oluphendula kwi-vitamin B6 (i-classical homocystinuria), izongezo ze-vitamin B6 zinokwanela ukunciphisa nokulawula amanqanaba akho e-homocysteine. Nangona kunjalo, ukuba unohlobo olungaphenduliyo okanye oluphendula kancinci kwi-vitamin B6 (classical homocystinuria), izongezo ze-vitamin B6 zodwa zinokwanela. Ungadinga ezinye iindlela zonyango. Ezi zinokubandakanya:

• Iyeza elithi `(Betaine)` (Betaine) okanye `(Cystadane): `(Betaine)` linceda ukunciphisa inqanaba le `( Homocysteine )` egazini lakho.
• Ukutya okukhethekileyo kwe-`(Homocystinuria)`: Kuya kufuneka ulandele ukutya okuthintela ukutya okuqulethe iiproteni kunye ne-`(Methionine)`.
• Izongezo ezongezelelweyo: Ukuba unenye uhlobo lwe-homocystinuria, kunokufuneka uthathe izongezo ze-folate ( i-vitamin B9 ) okanye i-cobalamin ( i-vitamin B12 ).

Eyona nto ibalulekileyo kukuba olu nyango luqhubeke ubomi bonke . Kulapho kuphela apho unokulawula khona amanqanaba e-homocysteine ​​​​yakho, unciphise iingxaki, kwaye uphile ubomi obusempilweni.

Ungaphila ixesha elingakanani une-homocystinuria?

Ukuba ifunyenwe kwangethuba kwaye inyangwa ngokufanelekileyo ubomi bonke, uninzi lwabantwana abaneHomocystinuria banokulindela ukuphila ubomi obuqhelekileyo nobusempilweni . Ke ngoko, ukuxilongwa kwangethuba kunye nonyango oluqhubekayo kubaluleke kakhulu.

Ngaba i-homocystinuria ingathintelwa?

Ngenxa yokuba yimeko yemfuza, i-homocystinuria ayinakuthintelwa. Nangona kunjalo, ukuba ukhulelwe okanye uceba ukuba nomntwana kwixesha elizayo, kufanelekile ukuthetha nomcebisi wezemfuza. Ingcebiso yemfuza inokukunceda uqonde umngcipheko wokuba nomntwana one-homocystinuria. Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba wena okanye umntwana wakho unesifo semfuza. Zinike ixesha lokufunda konke onako malunga ne-homocystinuria. Emva koko, fumana ugqirha oyiqonda ngokupheleleyo imeko yakho. Ukusebenza nengcali ye-metabolic kunokukunika ingqiqo yokulawula. Ngokuzinika amandla ngolwazi kunye nezixhobo, unokufikelela kwisiphumo esingcono kakhulu.

Okokugqibela, eyona nto ibalulekileyo (Umyalezo Wokuya Ekhaya)

Kulungile, ngoko ke ndiyathemba ukuba ngoku uyaqonda ngcono into ebesithetha ngayo (iHomocystinuria). Nazi izinto ezibalulekileyo ekufuneka uzikhumbule:

• Yintoni i-`(Homocystinuria)`?Isifo esingaqhelekanga, kodwa esinokuba yingozi kwimfuza.
• Okwenzekayo koku kukuba umzimba awukwazi ukulawula ngokufanelekileyo ikhemikhali ebizwa ngokuba yi-"Homocysteine," kwaye iyaqokelelana emzimbeni.
• Oku kunokubangela iingxaki emehlweni, emathanjeni, kwinkqubo yemithambo-luvo, nakwimithambo yegazi .
• Eyona nto ibalulekileyo kukuqaphela isifo kwangethuba uze ufumane unyango olufanelekileyo ubomi bakho bonke . Ukuba wenza njalo, ungaphila ubomi obuqhelekileyo.
• I-Vitamin B6, ukutya okukhethekileyo, kunye namayeza athile zezona ndlela ziphambili zokunyanga oku.
• Ukuba unemibuzo engaphezulu malunga noku, okanye ukuba kukho umntu kusapho lwakho onale mpawu, qiniseka ukuba ucela ingcebiso kagqirha.

Musa ukoyika, eyona ndlela ilungileyo yokujongana nayo nayiphi na imeko yempilo kukuba nolwazi olupheleleyo ngayo. I-Homocystinuria, izifo zemfuza, i-homocysteine, ii-amino acids, i-vitamin B6, i-vitamin B12, i-methionine