Shin ka san da wata cuta ta kwayoyin halitta da ba kasafai ake samunta ba da ake kira Homocystinuria (HCU)? Bari mu yi magana a kai!

A yau za mu yi magana game da wata cuta da ba mu taɓa ji ba a da, amma yana da matuƙar muhimmanci kowa ya sani. Wannan ana kiransa Homocystinuria, ko kuma `(HCU)` a takaice. Wani lokaci, idan wasu hanyoyin sinadarai da ke faruwa a cikin jikinmu ba su tafi yadda ya kamata ba, matsaloli na iya tasowa. Wannan ɗaya ce daga cikin irin wannan yanayin da ake kira `(HCU)`. Kada ku ji tsoro, bari mu yi magana game da wannan a sauƙaƙe.

Menene Homocystinuria (HCU)?

A taƙaice dai, `(HCU)` cuta ce ta kwayoyin halitta da ba kasafai ake samunta ba. Abin da ke faruwa a cikin wannan shi ne jikinmu ba zai iya sarrafa amino acid `(Homocysteine)` yadda ya kamata ba, wato, ba zai iya amfani da shi ba kuma ya cire shi. Ka yi tunanin, me zai faru idan abubuwa marasa amfani suka taru a jikinmu? Kamar haka, wannan `(Homocysteine)` yana taruwa ba tare da wani dalili ba a cikin jini da fitsari. Wannan tarin na iya haifar da matsaloli masu tsanani a idanu, tsarin kwarangwal (ƙwaƙwalwarmu), tsarin jijiyoyi na tsakiya (kwakwalwa da kashin baya), da tsarin jijiyoyin jini (jijiyoyin jini). Yanzu kuna da tambaya , menene waɗannan amino acid? Amino acid sune ginshiƙan gina furotin. Kamar yadda ake buƙatar tubali don gina gini, ana buƙatar amino acid don gina furotin a jikinmu. Jikinmu yana yin wani ɓangare na wannan `(Homocysteine)` daga wani amino acid mai suna `(Methionine)`. Haka kuma, daga abincin da muke ci mai yawan furotin, misali, nama, kifi, da ƙwai, muna samun ƙarin `(Methionine)`. Yawanci, jikinmu yana karya wannan `(Methionine)` kuma ya mayar da shi `(Homocysteine)`. Duk da haka, a cikin jikin mutumin da ke da `(Homocystinuria), wani enzyme da ake buƙata don sarrafa wannan `(Homocysteine)` yadda ya kamata, wato, don kiyaye shi a matakin da ake buƙata da kuma canza sauran, ya ɓace, ko kuma bai yi aiki yadda ya kamata ba. Enzyme wani nau'in furotin ne wanda ke hanzarta halayen sinadarai a jikinmu. Don haka lokacin da wannan enzyme ya ɓace, matakin `(Homocysteine)` yana ƙaruwa.

Mene ne manyan nau'ikan homocystinuria?

Masu bincike sun raba homocystinuria zuwa nau'i daban-daban bisa ga dalilan kwayoyin halitta. Akwai manyan nau'i biyu:

1. Rashin sinadarin Cystathionine beta-synthase (CBS) (Classical Homocystinuria)

Wannan shine nau'in homocystinuria da aka fi sani . Cystathionine beta-synthase (CBS) wani enzyme ne da ke taimakawa wajen canza homocysteine ​​​​zuwa wani amino acid, cysteine. Wannan nau'in cuta yana faruwa ne lokacin da kwayar halittar CBS ke samar da ƙarancin enzyme na CBS ko babu, ko kuma lokacin da enzyme na CBS bai yi aiki yadda ya kamata ba. enzyme na CBS yana buƙatar bitamin B6, wanda aka fi sani da pyridoxine, don yin aiki yadda ya kamata. Wannan nau'in an ƙara raba shi gwargwadon yadda kuke amsawa ga ƙarin bitamin B6.

2. Matsalar metabolism ta Cobalamin (cbl)

Jikinmu yana buƙatar mayar da wasu daga cikin homocysteine ​​​​zuwa methionine. Wannan tsari ya ƙunshi bitamin B12, wanda aka fi sani da cobalamin. Jikinmu yana bin matakai da dama don mayar da homocysteine ​​​​zuwa methionine. Homocystinuria, wanda ke faruwa sakamakon ƙarancin cobalamin, yana faruwa ne lokacin da jiki ba zai iya kammala wannan matakin ba, bai samar da enzyme daidai ba, ko kuma ya samar da enzymes masu lahani.

Mene ne bambanci tsakanin homocystinuria da cutar Marfan?

Ciwon Marfan wata cuta ce ta kwayoyin halitta da ba kasafai ake samunta ba wacce ke shafar kyallen haɗin jiki a jiki. Yawancin alamomin wannan cuta suna kama da na homocystinuria. Misali, dogayen gaɓoɓi, dogayen yatsu masu siriri, lentis na ectopia, da myopia. Duk da haka, ciwon Marfan yana faruwa ne sakamakon maye gurbi a cikin kwayar halittar Fibrillin-1 (FBN1). Mutanen da ke fama da ciwon Marfan suna da matakan homocysteine ​​​​da methionine na yau da kullun.

Su waye suka fi kamuwa da wannan ciwon? Yaya aka saba kamuwa da shi?

Homocystinuria yana faruwa ne sakamakon maye gurbi na kwayoyin halitta. Don haka kowa zai iya kamuwa da shi. Duk da haka, wasu bincike sun nuna cewa wannan yanayin yana shafar mutane a wasu ƙasashe fiye da wasu. Waɗannan ƙasashe sune:

• Ireland
• Norway
• Jamus
• Qatar

Homocystinuria cuta ce da ba kasafai ake samunta a cikin kwayoyin halitta ba . Mafi yawan nau'in cutar tana shafar mutum ɗaya cikin 200,000 zuwa mutum ɗaya cikin 335,000 a duk duniya. Wannan ba kasafai ake samunta ba.

Mene ne alamun homocystinuria?

Alamomin `(Homocystinuria)` sun bambanta dangane da nau'in da kake da shi. Yawanci suna fara bayyana a cikin 'yan shekarun farko na rayuwa. Duk da haka, wasu mutane ba za su iya samun wata alama ba har sai sun girma. Nau'in `(Homocystinuria)` da aka fi sani yawanci yana shafar waɗannan tsarin:

• Idanu
• Tsarin kwarangwal
• Tsarin juyayi na tsakiya
• Tsarin jijiyoyin jini

Alamomin `(Homocystinuria)` na iya haɗawa da:

Alamomin da ke shafar idanu:

• Gilashin ido yana motsawa daga matsayinsa na yau da kullun (ectopia lentis). Wannan na iya haifar da matsalar gani .
• Rashin gani sosai (myopia), wanda ke nufin rashin iya gani daga nesa.

Alamomin da ke shafar tsarin kwarangwal:

• Nuna girma fiye da kima .
• Tsawaita hannuwa, ƙafafuwa, da yatsu ba bisa ƙa'ida ba.
• Gwiwoyi suna lanƙwasa ciki kuma gwiwoyi suna bugawa tare idan kafafuwansu suka miƙe (wannan kuma ana kiransa "gwiwoyi masu lanƙwasa").
• Akwatin ya nutse ko kuma ya fito gaba.
• Lanƙwasa na kashin baya (scoliosis).
• Mutanen da ke fama da homocystinuria suma suna cikin haɗarin kamuwa da cutar osteoporosis .

Alamomin da ke shafar tsarin jijiyoyi na tsakiya:

• Jinkirin ci gaba . Wannan yana nufin rashin nuna ci gaban hankali ko na jiki da ya dace da shekaru.
• Wahalolin koyo.

Alamomin da ke shafar tsarin zuciya da jijiyoyin jini:

• Ƙara haɗarin toshewar jini. Waɗannan toshewar jini na iya haifar da yanayi masu haɗari kamar bugun jini ko bugun zuciya na huhu .

Mene ne ke haifar da homocystinuria?

Yawancin nau'ikan homocystinuria suna faruwa ne sakamakon canje-canje a cikin kwayoyin halitta, ko maye gurbi, a cikin kwayoyin halitta daban-daban.

Dalilan Halittar Halitta

Nau'in `(Homocystinuria)` da aka fi sani da shi yana faruwa ne sakamakon maye gurbi a cikin kwayar halittar `(CBS)`. Wannan kwayar halittar `(CBS)` tana gaya wa jikinmu yadda ake yin wani enzyme mai suna `(Cystathionine beta-synthase)`. Wannan enzyme yana da alhakin hanyar sinadarai da ke canza `(Homocysteine)` acid zuwa `(Methionine)`. `(Homocystinuria)` kuma ana iya haifar da shi ta hanyar maye gurbi a cikin kwayoyin halittar `(MTHFR)`, `(MTR)`, `(MTRR)` da `(MMADHC)`. Duk waɗannan kwayoyin halittar suna da alhakin canza `(Homocysteine)` acid zuwa `(Methionine). Idan ɗayan waɗannan kwayoyin halittar yana da maye gurbi, enzyme mai dacewa ba ya aiki yadda ya kamata. Sannan `(Homocysteine)` yana fara taruwa a jiki. Duk da haka, masu bincike har yanzu ba su da tabbas gaba ɗaya dalilin da yasa yawan matakan homocysteine ​​​​ke haifar da alamun homocystinuria. Kuna gaji homocystinuria a cikin tsarin autosomal recessive. Wannan yana nufin cewa za ku gaji cutar ne kawai idan iyayenku biyu, waɗanda galibi ba su da alamun cutar, suka ba ku kwayar halittar da abin ya shafa.

Shin rashin bitamin zai iya haifar da homocystinuria?

Eh, homocystinuria na iya faruwa saboda dalilai marasa alaƙa da kwayoyin halitta. Wannan yanayin kuma yana iya faruwa ne sakamakon ƙarancin bitamin B6, bitamin B9 (folate), ko bitamin B12 (cobalamin).

Ta yaya ake gane Homocystinuria?

A ƙasashe kamar Amurka, ana amfani da gwaje-gwajen tantance jarirai don tantance wasu yanayi na rayuwa, ciki har da homocystinuria. Gwajin homocysteine ​​​​yana auna matakan homocysteine ​​​​da methionine a cikin jinin jaririnku. Idan sakamakon gwajin ya kasance tabbatacce, yana nuna cewa yanayin yana iya kasancewa, likitan jaririnku zai ba da umarnin ƙarin gwaje-gwaje don tabbatar da sakamakon. Duk da haka, waɗannan gwaje-gwajen jarirai ba koyaushe suke daidai ba 100%. Wani lokaci ƙila ba za su iya gano wasu yanayi ba. Saboda haka, wasu mutane ana gano su da homocystinuria bayan bayyanar alamun. Kodayake alamu da yawa suna bayyana a lokacin ƙuruciya ko ƙuruciya, wani lokacin suna iya bayyana a lokacin girma. Idan kuna da alamun `(Homocystinuria)`, likitanku zai ba da umarnin `(Gwajin Homocysteine)` don tabbatar da yanayin. Idan sakamakon ya nuna cewa kuna da `(homocystinuria na gargajiya)` (wato, `(CBS)``), likitanku zai ba da umarnin wani gwaji don gano wane nau'in da kuke da shi. Ana kiran wannan `(ƙalubalantar bitamin B6)` . Wannan gwajin yana gano yadda kuke amsawa ga ƙarin bitamin B6. Likitan ku zai iya tsara muku tsarin magani da ya dace. Ana iya rarraba ''(Gargajiya homocystinuria)' kamar haka:

• Mai amsawa ga bitamin B6: Jikinka yana samar da isasshen sinadarin enzyme ``(CBS)``, don haka bitamin B6 zai iya taimakawa wannan sinadarin yayi aiki yadda ya kamata.
• Rashin sinadarin bitamin B6: Jikinka yana samar da wani adadin sinadarin enzyme (CBS)'', don haka bitamin B6 na iya taimakawa wani ɓangare.
• Bitamin B6 ba ya amsawa: Jikinka ba ya samar da isasshen enzyme ``(CBS)``, don haka da wuya bitamin B6 ya taimaka wa enzyme ɗin.

Gwajin kwayoyin halitta na iya gano sauye-sauye a cikin kwayoyin halittar da ke haifar da homocystinuria. Duk da haka, likitoci ba sa amfani da waɗannan saboda gwajin homocysteine ​​​​kawai zai iya gano cutar.

Menene hanyoyin magance homocystinuria?

Maganin homocystinuria ya ƙunshi sarrafa matakan homocystinuria a cikin jininka da kuma kula da alamun cutar. Yawanci magani ya haɗa da shan ƙarin bitamin B6. Idan kana da nau'in da ke amsawa ga bitamin B6 (homocystinuria na gargajiya), ƙarin bitamin B6 na iya isa don rage da kuma sarrafa matakan homocysteine. Duk da haka, idan kana da nau'in da ba ya amsawa ko kuma ba ya amsawa ga bitamin B6 (homocystinuria na gargajiya), ƙarin bitamin B6 kaɗai bazai isa ba. Kuna iya buƙatar ƙarin zaɓuɓɓukan magani. Waɗannan na iya haɗawa da:

• Maganin `(Betaine)` (Betaine) ko `(Cystadane): `(Betaine)` yana taimakawa wajen rage yawan `( Homocysteine )` a cikin jinin mutum.
• Abinci na musamman ga `(Homocystinuria)`: Dole ne ku bi tsarin abinci wanda ke iyakance abincin da ke ɗauke da furotin da `(Methionine)`.
• Karin kari: Idan kana da wani nau'in homocystinuria, za ka iya buƙatar shan ƙarin folate ( bitamin B9 ) ko cobalamin ( bitamin B12 ).

Abu mafi mahimmanci shine a ci gaba da wannan maganin a duk tsawon rayuwar mutum . Sai kawai a lokacin ne za ku iya sarrafa matakan homocysteine, rage matsaloli, da kuma rayuwa mai kyau.

Har yaushe za ku iya rayuwa tare da homocystinuria?

Idan aka gano cutar da wuri kuma aka yi mata magani yadda ya kamata a tsawon rayuwarsu, yawancin yaran da ke fama da Homocystinuria za su iya tsammanin rayuwa mai kyau da koshin lafiya . Saboda haka, gano cutar da wuri da kuma ci gaba da magani yana da matuƙar muhimmanci.

Za a iya hana homocystinuria?

Domin kuwa wata cuta ce ta kwayoyin halitta, ba za a iya hana homocystinuria ba. Duk da haka, idan kina da juna biyu ko kuma kina shirin haihuwa a nan gaba, ya kamata ki yi magana da mai ba da shawara kan kwayoyin halitta. Shawarar kwayoyin halitta na iya taimaka miki wajen fahimtar haɗarin haihuwar ɗa da ke fama da homocystinuria. Abu ne na al'ada a ji damuwa idan kin gano cewa ke ko jaririnki kuna da wata cuta ta kwayoyin halitta. Ki ɗauki lokaci ki koyi duk abin da za ki iya game da homocystinuria. Sannan, ki nemi likita wanda ya fahimci yanayinki sosai. Yin aiki tare da ƙwararren masanin metabolism zai iya ba ki damar sarrafa kanta. Ta hanyar ƙarfafa wa kanki gwiwa da bayanai da albarkatu, za ki iya cimma sakamako mafi kyau.

A ƙarshe, abu mafi mahimmanci (Saƙon Ɗauka Gida)

To, ina fatan yanzu kun fahimci abin da muke magana a kai (Homocystinuria). Ga wasu muhimman abubuwa da ya kamata ku tuna:

• Menene `(Homocystinuria)`?Cutar gado mai wuya, amma mai yuwuwar zama mai tsanani.
• Abin da ke faruwa a cikin wannan shi ne cewa jiki ba zai iya sarrafa wani sinadari mai suna "Homocysteine" yadda ya kamata ba, kuma yana taruwa a cikin jiki.
• Wannan na iya haifar da matsaloli tare da idanu, kwarangwal, tsarin jijiyoyi, da jijiyoyin jini .
• Abu mafi mahimmanci shine a gane cutar da wuri kuma a sami magani mai kyau a duk tsawon rayuwarka . Idan ka yi haka, za ka iya rayuwa ta yau da kullun.
• Bitamin B6, abinci na musamman, da wasu magunguna su ne manyan hanyoyin magance wannan.
• Idan kana da wasu tambayoyi game da wannan, ko kuma idan wani a cikin iyalinka yana da waɗannan alamun, ka tabbata ka nemi shawarar likita.

Kada ku ji tsoro, hanya mafi kyau ta magance kowace irin matsala ta lafiya ita ce ku kasance masu cikakken sani game da ita. Homocystinuria, cututtukan gado, homocysteine, amino acid, bitamin B6, bitamin B12, methionine