Kodi mukudziwa za matenda osowa kwambiri a majini otchedwa Homocystinuria (HCU)? Tiyeni tikambirane za matendawa!

Lero tikambirana za vuto lomwe sitinamvepo kale, koma ndikofunikira kwambiri kuti aliyense adziwe. Izi zimatchedwa Homocystinuria, kapena `(HCU)` mwachidule. Nthawi zina, pamene njira zina zamagetsi zomwe zimachitika m'thupi lathu sizikuyenda bwino, mavuto osayembekezereka amatha kuchitika. Ili ndi vuto limodzi lotchedwa `(HCU)`. Musachite mantha, tiyeni tikambirane za izi mosavuta.

Kodi Homocystinuria (HCU) ndi chiyani?

Mwachidule, `(HCU)` ndi matenda osowa kwambiri a majini . Chomwe chimachitika pamenepa ndi chakuti thupi lathu silingathe kulamulira bwino amino acid `(Homocysteine)`, kutanthauza kuti silingathe kuigwiritsa ntchito ndikuichotsa. Tangoganizirani, chimachitika ndi chiyani ngati zinthu zopanda ntchito zikusonkhana m'thupi lathu? Monga choncho, `(Homocysteine)` iyi ikusonkhana mosafunikira m'magazi ndi mkodzo. Kusonkhanitsa kumeneku kungayambitse mavuto aakulu m'maso, m'mafupa (mafupa athu), m'mitsempha yapakati (ubongo ndi msana), ndi m'mitsempha yamagazi (mitsempha yamagazi). Tsopano muli ndi funso , kodi ma amino acid awa ndi chiyani? Ma amino acid ndi maziko omangira mapuloteni. Monga momwe njerwa zimafunikira pomanga nyumba, ma amino acid amafunikira kuti amange mapuloteni m'thupi lathu. Thupi lathu limapanga gawo la `(Homocysteine)` iyi kuchokera ku amino acid ina yotchedwa `(Methionine)`. Komanso, kuchokera muzakudya zokhala ndi mapuloteni ambiri zomwe timadya, mwachitsanzo, nyama, nsomba, ndi mazira, timapeza `(Methionine)` yambiri. Nthawi zambiri, thupi lathu limaswa `(Methionine)` iyi ndikuisintha kukhala `(Homocysteine)`. Komabe, m'thupi la munthu amene ali ndi `(Homocystinuria), enzyme yomwe imafunika kuti ilamulire bwino `(Homocysteine)` iyi, kutanthauza kuti, kuti ipitirire pamlingo wofunikira ndikusintha zina zonse, ikusowa, kapena sigwira ntchito bwino. Enzyme ndi mtundu wa mapuloteni omwe amafulumizitsa zochita za mankhwala m'thupi lathu. Choncho enzyme iyi ikasowa, kuchuluka kwa `(Homocysteine)` kumawonjezeka.

Kodi mitundu ikuluikulu ya homocystinuria ndi iti?

Ofufuza agawa homocystinuria m'mitundu ingapo kutengera zomwe zimayambitsa majini. Pali mitundu iwiri ikuluikulu:

1. Kusowa kwa Cystathionine beta-synthase (CBS) (Classical Homocystinuria)

Uwu ndiye mtundu wofala kwambiri wa homocystinuria. Cystathionine beta-synthase (CBS) ndi enzyme yomwe imathandiza kusintha homocysteine ​​​​kukhala amino acid ina, cysteine. Mtundu uwu wa matendawa umachitika pamene jini ya CBS imapanga enzyme yochepa kwambiri ya CBS kapena osapanganso, kapena pamene enzyme ya CBS sigwira ntchito bwino. Enzyme ya CBS imafuna vitamini B6, yomwe imadziwikanso kuti pyridoxine, kuti igwire ntchito bwino. Mtundu uwu umagawidwanso malinga ndi momwe mumayankhira bwino ku zowonjezera za vitamini B6.

2. Vuto la kagayidwe kachakudya ka Cobalamin (cbl)

Thupi lathu liyenera kusintha homocysteine ​​​​kubwerera ku methionine. Njirayi imaphatikizapo vitamini B12, yomwe imadziwikanso kuti cobalamin. Thupi lathu limadutsa masitepe angapo kuti lisinthe homocysteine ​​​​kubwerera ku methionine. Homocystinuria, yomwe imayamba chifukwa cha kusowa kwa cobalamin, imachitika pamene thupi silingathe kumaliza gawoli, silipanga enzyme yoyenera, kapena limapanga ma enzyme olakwika.

Kodi pali kusiyana kotani pakati pa homocystinuria ndi Marfan syndrome?

Matenda a Marfan ndi matenda osowa kwambiri omwe amakhudza minofu yolumikizana m'thupi lonse. Zizindikiro zambiri za matendawa zimafanana ndi za homocystinuria. Mwachitsanzo, miyendo yayitali, zala zazitali, zoonda, ectopia lentis, ndi myopia. Komabe, matenda a Marfan amayamba chifukwa cha kusintha kwa majini a Fibrillin-1 (FBN1). Anthu omwe ali ndi matenda a Marfan amakhala ndi homocysteine ​​​​ndi methionine yokwanira.

Ndani amene amakhudzidwa kwambiri ndi vutoli? Kodi ndi lofala bwanji?

Homocystinuria imayamba chifukwa cha kusintha kwa majini. Choncho aliyense akhoza kudwala matendawa. Komabe, kafukufuku wina wasonyeza kuti vutoli limakhudza anthu ambiri m'mayiko ena kuposa ena. Mayiko awa ndi awa:

• Ireland
• Norway
• Germany
• Qatar

Homocystinuria ndi matenda osowa kwambiri m'majini . Matendawa amapezeka kwambiri pakati pa munthu mmodzi pa anthu 200,000 ndi mmodzi pa anthu 335,000 padziko lonse lapansi. Zimenezi n'zosowa kwambiri.

Kodi zizindikiro za homocystinuria ndi ziti?

Zizindikiro za `(Homocystinuria)` zimasiyana malinga ndi mtundu womwe muli nawo. Nthawi zambiri zimayamba kuonekera m'zaka zoyambirira za moyo. Komabe, anthu ena sangakhale ndi zizindikiro zilizonse mpaka atakula. Mtundu wofala kwambiri wa `(Homocystinuria)` nthawi zambiri umakhudza machitidwe awa:

• Maso
• Dongosolo la mafupa
• Dongosolo lapakati la mitsempha
• Mitsempha yamagazi

Zizindikiro za `(Homocystinuria)` zitha kukhala:

Zizindikiro zomwe zimakhudza maso:

• Diso la maso limachoka pamalo ake abwinobwino (ectopia lentis). Izi zingayambitse vuto la kuona .
• Kulephera kuona bwino (myopia), zomwe zikutanthauza kusatha kuona patali.

Zizindikiro zomwe zimakhudza dongosolo la mafupa:

• Kuwonetsa kukula kwakukulu .
• Kutalikitsa manja, miyendo, ndi zala modabwitsa.
• Mawondo amapindika mkati ndipo mawondo amagundana pamodzi miyendo ikakhala yowongoka (izi zimatchedwanso "mawondo ogogoda").
• Chifuwacho chimalowa mkati kapena kutuluka patsogolo.
• Kupindika kwa msana (scoliosis).
• Anthu omwe ali ndi homocystinuria nawonso ali pachiwopsezo chotenga matenda a osteoporosis .

Zizindikiro zomwe zimakhudza dongosolo la mitsempha:

• Kuchedwa kukula . Izi zikutanthauza kusawonetsa kukula kwa nzeru kapena thupi koyenera msinkhu.
• Mavuto ophunzirira.

Zizindikiro zomwe zimakhudza dongosolo la mtima:

• Kuwonjezeka kwa chiopsezo cha magazi kuundana. Magazi oundana amenewa angayambitse matenda oopsa monga sitiroko kapena pulmonary embolism.

Kodi ndi zifukwa ziti zomwe zimayambitsa homocystinuria?

Mitundu yambiri ya homocystinuria imayamba chifukwa cha kusintha kwa majini, kapena kusintha kwa majini, m'majini osiyanasiyana.

Zomwe zimayambitsa majini

Mtundu wofala kwambiri wa `(Homocystinuria)` umayamba chifukwa cha kusintha kwa majini a `(CBS)`. Jini la `(CBS)` limeneli limauza thupi lathu momwe tingapangire enzyme yotchedwa `(Cystathionine beta-synthase)`. Enzyme iyi imayambitsa njira ya mankhwala yomwe imasandutsa `(Homocysteine)` acid kukhala `(Methionine)`. `(Homocystinuria)` ingayambitsidwenso ndi kusintha kwa majini a `(MTHFR)`, `(MTR)`, `(MTRR)` ndi `(MMADHC)`. Majini onsewa ndi omwe amachititsa kusintha `(Homocysteine)` acid kukhala `(Methionine). Ngati majini aliwonsewa ali ndi kusintha, enzyme yoyenera sigwira ntchito bwino. Kenako `(Homocysteine)` imayamba kudziunjikira m'thupi. Komabe, ofufuza sakudziwabe chifukwa chake kuchuluka kwa homocysteine ​​​​kumayambitsa zizindikiro za homocystinuria. Mumalandira homocystinuria mu autosomal recessive pattern. Izi zikutanthauza kuti mudzalandira matendawa pokhapokha ngati makolo anu onse awiri, omwe nthawi zambiri samakhala ndi zizindikiro, akukupatsani jini yomwe yakhudzidwa.

Kodi homocystinuria imayamba chifukwa cha kusowa kwa mavitamini?

Inde, homocystinuria ingathenso kuchitika chifukwa cha zinthu zomwe sizili za majini. Vutoli likhozanso kuchitika chifukwa cha kusowa kwambiri kwa vitamini B6, vitamini B9 (folate), kapena vitamini B12 (cobalamin).

Kodi homocystinuria imapezedwa bwanji?

M'mayiko ngati United States, mayeso oyezera makanda obadwa kumene amagwiritsidwa ntchito poyesa matenda angapo a kagayidwe kachakudya, kuphatikizapo homocystinuria. Mayeso a homocysteine ​​​​amayesa kuchuluka kwa homocysteine ​​​​ndi methionine m'magazi a mwana wanu. Ngati zotsatira za mayeso zili zabwino, zomwe zikusonyeza kuti vutoli likhoza kukhalapo, dokotala wa mwana wanu amayitanitsa mayeso ena kuti atsimikizire zotsatira zake. Komabe, mayeso oyezera makanda obadwa kumenewa nthawi zambiri samakhala olondola 100%. Nthawi zina sangazindikire matenda ena. Chifukwa chake, anthu ena amapezeka ndi homocystinuria zizindikiro zitayamba kuonekera. Ngakhale zizindikiro zambiri zimawonekera ali akhanda kapena ali ana, nthawi zina zimatha kuwonekera ali achikulire. Ngati muli ndi zizindikiro za `(Homocystinuria)`, dokotala wanu amayitanitsa mayeso a `(Homocysteiniria)` kuti atsimikizire vutoli. Ngati zotsatira zake zikusonyeza kuti muli ndi `(classical homocystinuria)` (ndiko kuti, `(CBS)` kusowa), dokotala wanu amayitanitsa mayeso ena kuti adziwe mtundu wanji wa matenda omwe muli nawo. Izi zimatchedwa `(vitamin B6 challenge)` . Mayesowa amafufuza momwe mumayankhira ndi zowonjezera za vitamini B6. Dokotala wanu akhoza kupanga dongosolo loyenera la chithandizo kwa inu. `(Classical homocystinuria)` ikhoza kugawidwa motere:

• Kuyankha kwa Vitamini B6: Thupi lanu limapanga enzyme yokwanira ``(CBS)'', kotero vitamini B6 ingathandize enzymeyo kugwira ntchito bwino.
• Kuyankha pang'ono kwa vitamini B6: Thupi lanu limapanga kuchuluka kwa enzyme ``(CBS)'', kotero vitamini B6 ingathandize pang'ono.
• Vitamini B6-yosagwira ntchito: Thupi lanu silipanga enzyme yokwanira ``(CBS)'', kotero vitamini B6 singathandize enzyme.

Kuyezetsa majini kumatha kuzindikira kusintha kwa majini komwe kumayambitsa homocystinuria. Komabe, madokotala nthawi zambiri sagwiritsa ntchito izi chifukwa mayeso a homocysteine ​​​​okha ndi omwe amatha kuzindikira vutoli.

Kodi mankhwala a homocystinuria ndi ati?

Chithandizo cha homocystinuria chimaphatikizapo kuwongolera kuchuluka kwa homocysteine ​​​​m'magazi mwanu ndikuwongolera zizindikiro zanu. Chithandizo nthawi zambiri chimaphatikizapo kumwa zowonjezera za vitamini B6. Ngati muli ndi mtundu womwe umayankha ku vitamini B6 (classical homocystinuria), zowonjezera za vitamini B6 zitha kukhala zokwanira kuchepetsa ndikuwongolera kuchuluka kwa homocysteine ​​​​mwanu. Komabe, ngati muli ndi mtundu womwe suyankha kapena womwe umayankha pang'ono ku vitamini B6 (classical homocystinuria), zowonjezera za vitamini B6 zokha sizingakhale zokwanira. Mungafunike njira zina zochiritsira. Izi zitha kuphatikizapo:

• Mankhwala otchedwa `(Betaine)` (Betaine) kapena `(Cystadane): `(Betaine)` amathandiza kuchepetsa kuchuluka kwa `( Homocysteine )` m'magazi mwanu.
• Zakudya zapadera za `(Homocystinuria)`: Muyenera kutsatira zakudya zomwe zimaletsa zakudya zomwe zili ndi mapuloteni ndi `(Methionine)`.
• Zowonjezera zina: Ngati muli ndi mtundu wina wa homocystinuria, mungafunikenso kumwa folate ( vitamini B9 ) kapena cobalamin ( vitamini B12 ).

Chofunika kwambiri ndichakuti chithandizochi chipitirire kwa moyo wanu wonse . Pokhapokha mutatha kuwongolera kuchuluka kwa homocysteine ​​​​muli, kuchepetsa mavuto, ndikukhala ndi moyo wathanzi.

Kodi mungakhale ndi moyo wautali bwanji ndi homocystinuria?

Ngati atapezeka msanga ndi kuchiritsidwa bwino moyo wawo wonse, ana ambiri omwe ali ndi Homocystinuria amatha kukhala ndi moyo wabwinobwino komanso wathanzi . Chifukwa chake, kuzindikira msanga ndikupitiliza kulandira chithandizo ndikofunikira kwambiri.

Kodi homocystinuria ingapewedwe?

Popeza ndi matenda a majini, homocystinuria singathe kupewedwa. Komabe, ngati muli ndi pakati kapena mukukonzekera kukhala ndi mwana mtsogolo, ndikofunikira kulankhula ndi mlangizi wa majini. Uphungu wa majini ungakuthandizeni kumvetsetsa chiopsezo chanu chokhala ndi mwana ndi homocystinuria. Ndizachibadwa kumva kutopa mukazindikira kuti inu kapena mwana wanu ali ndi matenda a majini. Tengani nthawi yophunzira zonse zomwe mungathe zokhudza homocystinuria. Kenako, pezani dokotala yemwe amamvetsetsa bwino matenda anu. Kugwira ntchito ndi katswiri wa kagayidwe kachakudya kungakupatseni mphamvu yolamulira. Mwa kudzipatsa mphamvu ndi chidziwitso ndi zinthu zina, mutha kupeza zotsatira zabwino kwambiri.

Pomaliza, chinthu chofunikira kwambiri (Uthenga Wopita Nawo Kunyumba)

Chabwino, ndikukhulupirira kuti tsopano mwamvetsa bwino zomwe takhala tikukambirana (Homocystinuria). Nazi zinthu zofunika kukumbukira:

• Kodi `(Homocystinuria)` ndi chiyani?Matenda osowa, koma omwe angakhale oopsa m'majini.
• Chomwe chimachitika pamenepa n’chakuti thupi silingathe kulamulira bwino mankhwala otchedwa ``Homocysteine,'' ndipo amasonkhana m'thupi.
• Izi zingayambitse mavuto m'maso, mafupa, mitsempha, ndi mitsempha yamagazi .
• Chofunika kwambiri ndi kuzindikira matendawa msanga ndi kulandira chithandizo choyenera pa moyo wanu wonse . Ngati muchita zimenezo, mutha kukhala moyo wabwinobwino.
• Vitamini B6, zakudya zapadera, ndi mankhwala ena ndiye mankhwala akuluakulu a izi.
• Ngati muli ndi mafunso ena okhudza izi, kapena ngati wina aliyense m'banja mwanu ali ndi zizindikiro izi, onetsetsani kuti mwapeza upangiri wa dokotala.

Musachite mantha, njira yabwino yothetsera vuto lililonse la matenda ndikudziwa bwino za matendawa. Homocystinuria, matenda a majini, homocysteine, amino acid, vitamini B6, vitamini B12, methionine