Kwayar Krabbe wata cuta ce wadda ke shafar tsarin mai juyayi
Kuka Krabbe, wanda aka sani da kwayar halitta gloukin leukodystrophy, shine cututtukan cututtukan kwayoyin cututtukan da ke shafar tsarin jin tsoro. Mutane tare da Krabbe cuta suna da maye gurbin su a GALC. Saboda wadannan maye gurbin, ba su samar da isasshen ilimin enzyme galactosylceramidase. Wannan rashi yana haifar da asarar ci gaba na murfin mai karewa wanda ke dauke da myelin .
Idan ba tare da wannan layin kare ba, ƙwayoyinmu ba za su iya aiki yadda ya kamata ba, ta rushe hankalinmu da tsarin da muke so.
Kwayar Krabbe na shafar kimanin 1 a cikin 100,000 mutane a dukan duniya, tare da mafi girma matsaloli da aka ruwaito a wasu yankunan a Isra'ila.
Bayyanar cututtuka na Krabbe cuta
Akwai kashi hudu na cututtukan Krabbe, kowannensu da nasu farawa da bayyanar cututtuka.
| Nau'in 1 | Ƙasantawa | Fara tsakanin 3 zuwa 6 watanni |
| Rubuta 2 | Ƙarshen Matsala | Fara tsakanin watanni 6 da shekaru 3 |
| Rubuta 3 | Yara | Fara tsakanin 3 zuwa 8 years |
| Rubuta 4 | Adult farawa | Fara kowane lokaci bayan shekaru takwas |
Tun da cutar Krabbe tana rinjayar kwayoyin jijiya, yawancin cututtukan da ke haifar da su ne neuro. Nau'i na 1, nau'in jariri, yana lissafin kashi 85 zuwa 90 na lokuta. Nau'in 1 yana ci gaba ta hanyar matakai uku:
- Sashe na 1: Ya fara kusan watanni uku zuwa shida bayan haihuwa. Yaran jariran da suka kamu da su sun daina yin tasowa kuma sun zama m. Suna da murya mai tsayi (tsokoki suna da ƙarfi) kuma matsala suna ciyarwa.
- Sashe na 2: Lalacewar lalacewa mai saurin gaggawa, yana haifar da asarar amfani da tsokoki, ƙara ƙwayar tsoka, ƙuƙwalwar baya, da lalatawar hangen nesa. Za'a iya farawa.
- Sashe na 3: jariri ya zama makãho, kurma, ba tare da sanin wuraren su ba, kuma an kafa shi a cikin matsanancin matsayi. Rayuwa ga yara tare da Type 1 shine kimanin watanni 13.
Sauran nau'o'in Krabbe na farawa bayan wani lokaci na al'ada. Wadannan iri suna ci gaba da hankali fiye da Nau'in 1. Yara ba sa rayuwa fiye da shekaru biyu bayan Nau'in 2 fara. Rayuwa na rayuwa ga iri 3 da 4 ya bambanta, kuma bayyanar cututtuka bazai zama mai tsanani ba.
Ta yaya aka gano cutar Krabbe?
Idan bayyanar cututtukanka na nuna cutar Krabbe, za a iya gwada gwajin jini don ganin idan suna da raunin galactosylceramidase, yana tabbatar da ganewar cutar Krabbe. Za a iya yin furanni na lumbar don samfurin ruwan sanyi. Ƙananan matakan sunadaran sun iya nuna cutar. Don yaro da za a haifa tare da yanayin, iyaye biyu suna dauke da kwayar halitta - wanda yake a kan chromosome 14. Idan iyaye suna ɗauke da kwayar halitta, ana iya jarraba jaririn su don raunin galactosylceramidase. Wasu jihohin bayar da jarrabawar jariri don cutar Krabbe.
Jiyya
Babu magani don cutar Krabbe. Kwanan nan binciken sun nuna alamar ƙwayoyin sifofin hematopoietic ( HSCT ), kwayoyin da ke ci gaba da zama a cikin jini, a matsayin magani mai kyau don yanayin. HSCT yana aiki mafi kyau idan aka bai wa marasa lafiya waɗanda basu riga sun nuna alamun cututtuka ko kuma suna da alamun bayyanarwa ba. Yawan aiki yana aiki mafi kyau idan aka ba a farkon watanni na rayuwa.
HCST zai iya amfana da waɗanda ke da tsufa ko kuma ciwo mai saurin ci gaba da yara da rashin lafiyar jiki idan aka ba da wuri sosai. Duk da yake HCST ba zai warke cutar ba, zai iya samar da kyakkyawar rayuwa - jinkirta ci gaba da ciwon ƙwayar cuta da kuma kara yawan rai. Duk da haka, HCST ya zo tare da nasa hadarin kuma yana da yawan mutuwar kashi 15 cikin 100.
Binciken na yanzu shine bincikar maganin jiyya da aka yi amfani da alamomin magungunan ƙwayoyin cuta, tsarin maye gurbin enzyme, farfadowa na kwayoyin halitta, da kuma tsire-tsire masu suturar kwayoyin halitta. Wadannan hanyoyin kwantar da hankula sun kasance a farkon su kuma basu riga sun yi aiki don gwaji ba.
An cire bayani game da wannan labarin daga:
Tegay, DH (2014). Krabbe cuta. eMedicine.