Uyasazi isifo esingavamile esibangelwa izakhi zofuzo esibizwa ngokuthi i-Homocystinuria (HCU)? Ake sixoxe ngaso!

Namuhla sizokhuluma ngesimo esingakaze sisizwe ngaphambili, kodwa kubaluleke kakhulu ukuthi wonke umuntu azi ngaso. Lokhu kubizwa ngokuthi i-Homocystinuria, noma `(HCU)` ngamafuphi. Ngezinye izikhathi, lapho izinqubo ezithile zamakhemikhali ezenzeka emzimbeni wethu zingahambi kahle, kungavela izinkinga ezingalindelekile. Lesi esinye sezimo esibizwa ngokuthi `(HCU)`. Ungesabi, ake sixoxe ngalokhu kalula.

Kuyini i-Homocystinuria (HCU)?

Kalula nje, `(HCU)` yisifo esingavamile sofuzo . Okwenzekayo kulokhu ukuthi umzimba wethu awukwazi ukulawula kahle i-amino acid `(Homocysteine)`, okungukuthi, awukwazi ukuyisebenzisa nokuyisusa. Cabanga, kwenzekani uma izinto ezingenamsebenzi ziqoqana emzimbeni wethu? Kanjalo nje, le `(Homocysteine)` iqoqana ngokungadingekile egazini nasemchameni. Lokhu kuqoqana kungabangela izinkinga ezinkulu emehlweni, ohlelweni lwamathambo (uhlaka lwethu lwamathambo), ohlelweni lwezinzwa oluphakathi (ubuchopho nomgogodla), kanye nohlelo lwemithambo yegazi (imithambo yegazi). Manje unombuzo , ayini lawa ma-amino acid? Ama-amino acid ayizakhi eziyisisekelo zamaprotheni. Njengoba nje izitini zidingeka ukwakha isakhiwo, ama-amino acid ayadingeka ukwakha amaprotheni emzimbeni wethu. Umzimba wethu wenza ingxenye yale `(Homocysteine)` kwenye i-amino acid ebizwa ngokuthi `(Methionine)`. Futhi, ekudleni okunamaphrotheni amaningi esikudlayo, isibonelo, inyama, inhlanzi, namaqanda, sithola `(Methionine)` eningi. Ngokuvamile, umzimba wethu uyayiphula le `(Methionine)` bese uyiguqula ibe `(Homocysteine)`. Kodwa-ke, emzimbeni womuntu one-`(Homocystinuria), i-enzyme edingekayo ukulawula kahle le `(Homocysteine)`, okungukuthi, ukuyigcina isezingeni elidingekayo nokushintsha okunye, ayikho, noma ayisebenzi kahle. I-enzyme uhlobo lweprotheni olusheshisa ukusabela kwamakhemikhali emzimbeni wethu. Ngakho-ke uma le enzyme ingekho, izinga le-`(Homocysteine)` liyakhula.

Yiziphi izinhlobo eziyinhloko ze-homocystinuria?

Abacwaningi bahlukanise i-homocystinuria ngezinhlobo eziningana ngokusekelwe ezimbangela zofuzo eziyisisekelo. Kunezinhlobo ezimbili eziyinhloko:

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

Lolu uhlobo oluvame kakhulu lwe-homocystinuria. I-Cystathionine beta-synthase (CBS) iyi-enzyme esiza ukuguqula i-homocysteine ​​​​ibe enye i-amino acid, i-cysteine. Lolu hlobo lwesifo lwenzeka lapho i-gene ye-CBS ikhiqiza i-enzyme ye-CBS encane kakhulu noma ingasebenzi nhlobo, noma lapho i-enzyme ye-CBS ingasebenzi kahle. I-enzyme ye-CBS idinga i-vitamin B6, eyaziwa nangokuthi i-pyridoxine, ukuze isebenze kahle. Lolu hlobo luhlukaniswe ngokwendlela osabela ngayo kahle ezithasiselweni ze-vitamin B6.

2. Iphutha lokuguqulwa kwe-metabolism ye-Cobalamin (cbl)

Umzimba wethu udinga ukuguqula ingxenye ye-homocysteine ​​​​ibe yi-methionine. Le nqubo ihilela i-vitamin B12, eyaziwa nangokuthi i-cobalamin. Umzimba wethu udlula ezinyathelweni eziningana ukuze uguqule i-homocysteine ​​​​ibe yi-methionine. I-Homocystinuria, ebangelwa ukuntuleka kwe-cobalamin, yenzeka lapho umzimba ungakwazi ukuqeda lesi sinyathelo, ungenzi i-enzyme efanele, noma ukhiqiza ama-enzyme anephutha.

Uyini umehluko phakathi kwe-homocystinuria kanye ne-Marfan syndrome?

I-Marfan syndrome iyisifo esingavamile sofuzo esithinta izicubu ezixhumene emzimbeni wonke. Izimpawu eziningi zalesi sifo zifana neze-homocystinuria. Isibonelo, izitho ezinde, iminwe emide, emincane, i-ectopia lentis, kanye ne-myopia. Kodwa-ke, i-Marfan syndrome ibangelwa ukuguquka kwezakhi zofuzo ze-Fibrillin-1 (FBN1). Abantu abane-Marfan syndrome banamazinga ajwayelekile e -homocysteine ​​​​ne-methionine.

Ubani othinteka kakhulu yilesi simo? Sivame kangakanani?

I-Homocystinuria ibangelwa ukuguquka kwezakhi zofuzo. Ngakho-ke noma ubani angayithuthukisa. Kodwa-ke, ezinye izifundo zikhombisile ukuthi lesi simo sithinta abantu kwamanye amazwe kakhulu kunamanye. Lawa mazwe yilawa:

• I-Ireland
• INorway
• IJalimane
• I-Qatar

I-Homocystinuria yisifo esingavamile kakhulu esibangelwa izakhi zofuzo . Uhlobo oluvame kakhulu lwalesi sifo luthinta umuntu oyedwa kwabangu-200,000 kanye noyedwa kwabangu-335,000 emhlabeni jikelele. Lokho akuvamile ngempela.

Ziyini izimpawu ze-homocystinuria?

Izimpawu ze-`(Homocystinuria)` ziyahlukahluka kuye ngohlobo onalo. Ngokuvamile ziqala ukuvela eminyakeni embalwa yokuqala yokuphila. Kodwa-ke, abanye abantu bangase bangabi nazo izimpawu kuze kube yilapho sebekhulile. Uhlobo oluvame kakhulu lwe-`(Homocystinuria)` luvame ukuthinta lezi zinhlelo:

• Amehlo
• Uhlelo lwamathambo
• Isistimu yezinzwa ephakathi
• Uhlelo lwemithambo yegazi

Izimpawu ze-`(Homocystinuria)` zingafaka:

Izimpawu ezithinta amehlo:

• Ilensi yeso iyasuka endaweni yayo evamile (i-ectopia lentis). Lokhu kungabangela ukuphazamiseka kokubona .
• Ukubona okuphazamisekile kakhulu (i-myopia), okusho ukungakwazi ukubona kude.

Izimpawu ezithinta uhlelo lwamathambo:

• Kubonisa ukukhula ngokweqile .
• Ukwelulwa okungajwayelekile kwezingalo, imilenze, neminwe.
• Amadolo agobile ngaphakathi futhi amadolo ayashayisana uma imilenze iqondile (lokhu kubizwa nangokuthi "amadolo angqongqozayo").
• Isifuba sicwile ngaphakathi noma siphumele phambili.
• Ukugoba komgogodla (i-scoliosis).
• Abantu abane-homocystinuria nabo basengozini yokuthola i-osteoporosis .

Izimpawu ezithinta uhlelo lwezinzwa oluphakathi:

• Ukulibaziseka kokukhula . Lokhu kusho ukungabonakalisi intuthuko yengqondo noma yomzimba efanele iminyaka.
• Ubunzima bokufunda.

Izimpawu ezithinta uhlelo lwenhliziyo nemithambo yegazi:

• Ingozi eyengeziwe yokuqhekeka kwegazi. Lawa mahlule egazi angabangela izimo eziyingozi ezifana nesifo sohlangothi noma i-pulmonary embolism.

Yiziphi izimbangela ze-homocystinuria?

Izinhlobo eziningi ze-homocystinuria zibangelwa izinguquko zofuzo, noma izinguquko, ezizakhini zofuzo ezahlukahlukene.

Izimbangela zofuzo

Uhlobo oluvame kakhulu lwe-`(Homocystinuria)` lubangelwa ukuguquka kwezakhi zofuzo ze-`(CBS)`. Le `(CBS)` i-gene itshela umzimba wethu ukuthi ingayenza kanjani i-enzyme ebizwa ngokuthi `(Cystathionine beta-synthase)`. Le enzyme inesibopho sendlela yamakhemikhali eguqula i-`(Homocysteine)` acid ibe yi-`(Methionine)`. `(Homocystinuria)` ingabangelwa futhi ukuguquka kwezakhi zofuzo ze-`(MTHFR)`, `(MTR)`, `(MTRR)` kanye ne-`(MMADHC)`. Zonke lezi zakhi zofuzo zinesibopho sokuguqula i-`(Homocysteine)` acid ibe yi-`(Methionine). Uma noma yiliphi lala mazakhi zofuzo linokuguquka, i-enzyme efanele ayisebenzi kahle. Ngemuva kwalokho `(Homocysteine)` iqala ukuqongelela emzimbeni. Kodwa-ke, abacwaningi abakaqiniseki ngokuphelele ukuthi kungani amazinga aphezulu e-homocysteine ​​​​abangela izimpawu ze-homocystinuria. Uzuza i-homocystinuria ngephethini ye-autosomal recessive. Lokhu kusho ukuthi uzozuza lesi sifo kuphela uma bobabili abazali bakho bemvelo, abavame ukungabi nazimpawu, bedlulisela kuwe isakhi sofuzo esithintekile.

Ingabe i-homocystinuria ingabangelwa ukuntuleka kwamavithamini?

Yebo, i-homocystinuria ingabangelwa yizimbangela ezingezona ezezakhi zofuzo. Lesi simo singabangelwa nawukuntuleka okukhulu kwevithamini B6, ivithamini B9 (folate), noma ivithamini B12 (cobalamin).

I-Homocystinuria itholakala kanjani?

Emazweni afana ne-United States, ukuhlolwa kokuhlolwa kwezinsana ezisanda kuzalwa kusetshenziselwa ukuhlola izimo eziningana ze-metabolic, okuhlanganisa ne-homocystinuria. Ukuhlolwa kwe-homocysteine ​​​​kulinganisa amazinga e-homocysteine ​​​​ne-methionine egazini lengane yakho. Uma imiphumela yokuhlolwa ilungile, okubonisa ukuthi lesi simo singase sibe khona, udokotela wengane yakho uzoyala ukuhlolwa okwengeziwe ukuqinisekisa imiphumela. Kodwa-ke, lokhu kuhlolwa kwezinsana ezisanda kuzalwa akulona njalo iqiniso elingu-100%. Ngezinye izikhathi kungase kungakwazi ukuthola izimo ezithile. Ngakho-ke, abanye abantu batholakala bene-homocystinuria ngemva kokuvela kwezimpawu. Nakuba izimpawu eziningi zivela ebuntwaneni noma ebuntwaneni, ngezinye izikhathi zingavela ebudaleni. Uma unezimpawu ze-`(Homocystinuria)`, udokotela wakho uzoyala i-`(Homocysteinuria ​​​​test)` ukuqinisekisa lesi simo. Uma imiphumela ikhombisa ukuthi une-`(classical homocystinuria)` (okungukuthi, `(CBS)` yokushoda), udokotela wakho uzoyala olunye ukuhlolwa ukuthola ukuthi yiluphi uhlobo onalo. Lokhu kubizwa ngokuthi `(inselele ye-vitamin B6)` . Lokhu kuhlolwa kuthola ukuthi usabela kanjani ezithasiselweni ze-vitamin B6. Udokotela wakho angabe esekwakhela uhlelo lokwelashwa olufanele. `(Classical homocystinuria)` ingahlukaniswa kanje:

• Isabela ku-Vitamin B6: Umzimba wakho wenza i-enzyme eyanele ``(CBS)'', ngakho-ke i-vitamin B6 ingasiza leyo enzyme ukuthi isebenze kahle.
• Isabela kancane ku -vitamin B6: Umzimba wakho wenza inani elithile le-enzyme ``(CBS)'', ngakho-ke i-vitamin B6 ingasiza kancane.
• I-Vitamin B6-engaphenduli: Umzimba wakho awukhiqizi ngokwanele i-enzyme ``(CBS)'', ngakho-ke i-vitamin B6 cishe ayizukusiza i-enzyme.

Ukuhlolwa kwezakhi zofuzo kungathola izinguquko ezakhiweni zofuzo ezibangela i-homocystinuria. Kodwa-ke, odokotela abavamisile ukuzisebenzisa lezi zinto ngoba ukuhlolwa kwe-homocysteine ​​​​kuphela kungahlonza lesi simo.

Yiziphi izindlela zokwelapha i-homocystinuria?

Ukwelashwa kwe-homocystinuria kuhilela ukulawula amazinga e-homocysteine ​​​​egazini lakho nokulawula izimpawu zakho. Ukwelashwa kuvame ukufaka phakathi ukuthatha izithasiselo ze-vitamin B6. Uma unohlobo oluphendula ku-vitamin B6 (i-homocystinuria yakudala), izithasiselo ze-vitamin B6 zingase zanele ukwehlisa nokulawula amazinga akho e-homocysteine. Kodwa-ke, uma unohlobo olungaphenduli noma oluphendula kancane ku-vitamin B6 (i-homocystinuria yakudala), izithasiselo ze-vitamin B6 zodwa zingase zinganeli. Ungadinga ezinye izindlela zokwelapha. Lokhu kungafaka:

• Umuthi `(Betaine)` (Betaine) noma `(Cystadane): `(Betaine)` usiza ukunciphisa izinga `( Homocysteine )` egazini lakho.
• Ukudla okukhethekile kwe-`(Homocystinuria)`: Kuzodingeka ulandele ukudla okuvimbela ukudla okuqukethe amaprotheni kanye ne-`(Methionine)`.
• Izithasiselo ezengeziwe: Uma unesinye uhlobo lwe-homocystinuria, kungadingeka futhi ukuthi uthathe izithasiselo ze-folate ( i-vitamin B9 ) noma i-cobalamin ( i-vitamin B12 ).

Into ebaluleke kakhulu ukuthi lokhu kwelashwa kufanele kuqhubeke impilo yakho yonke . Yilapho kuphela lapho ungalawula khona amazinga akho e-homocysteine ​​​​, unciphise izinkinga, futhi uphile impilo enempilo.

Ungaphila isikhathi esingakanani ne-homocystinuria?

Uma kutholakale kusenesikhathi futhi kwelashwa kahle impilo yonke, izingane eziningi ezine-Homocystinuria zingalindela ukuphila impilo evamile nenempilo . Ngakho-ke, ukuxilongwa kusenesikhathi kanye nokwelashwa okuqhubekayo kubaluleke kakhulu.

Ingabe i-homocystinuria ingavinjelwa?

Ngenxa yokuthi kuyisimo sofuzo, i-homocystinuria ayinakuvinjelwa. Kodwa-ke, uma ukhulelwe noma uhlela ukuba nomntwana esikhathini esizayo, kufanelekile ukukhuluma nomeluleki wezakhi zofuzo. Ukwelulekwa ngezakhi zofuzo kungakusiza uqonde ingozi yakho yokuba nomntwana one-homocystinuria. Kuvamile ukuzizwa ukhungathekile lapho uthola ukuthi wena noma ingane yakho ninesimo sofuzo. Zinike isikhathi sokufunda konke ongakwenza nge-homocystinuria. Bese, thola udokotela oqonda ngokugcwele isimo sakho. Ukusebenza nochwepheshe we-metabolic kungakunikeza umuzwa wokulawula. Ngokuzinika amandla ngolwazi nezinsiza, ungafinyelela umphumela omuhle kakhulu.

Okokugcina, into ebaluleke kakhulu (Umyalezo Wokuya Ekhaya)

Kulungile, ngakho-ke ngithemba ukuthi usuyaqonda kangcono lokho ebesikhuluma ngakho (i-Homocystinuria). Nazi ezinye izinto ezibalulekile okufanele uzikhumbule:

• Kuyini `(Homocystinuria)`?Isifo esingavamile, kodwa esingaba yingozi ngokwezakhi zofuzo.
• Okwenzekayo kulokhu ukuthi umzimba awukwazi ukulawula kahle ikhemikhali ebizwa ngokuthi ``i-Homocysteine,'' bese iqoqana emzimbeni.
• Lokhu kungabangela izinkinga emehlweni, emathanjeni, ohlelweni lwezinzwa kanye nasemithanjeni yegazi .
• Into ebaluleke kakhulu ukuqaphela lesi sifo kusenesikhathi bese uthola ukwelashwa okufanele impilo yakho yonke . Uma wenza lokho, ungaphila impilo evamile.
• I-Vitamin B6, ukudla okukhethekile, kanye neminye imithi kuyizindlela eziyinhloko zokwelapha lokhu.
• Uma uneminye imibuzo mayelana nalokhu, noma uma kukhona emndenini wakho onalezi zimpawu, qiniseka ukuthi ucela iseluleko sezokwelapha.

Ungesabi, indlela engcono kakhulu yokubhekana nanoma yisiphi isimo sezokwelapha iwukuba nolwazi oluphelele ngaso. I-Homocystinuria, izifo zofuzo, i-homocysteine, ama-amino acid, i-vitamin B6, i-vitamin B12, i-methionine