Mucopolysaccharidosis I (MPS-1) - Kayan da ke cikin kwayoyin cututtukan kwayoyin halitta
Idan ka koyi cewa yaronka ko ɗayan ƙaunatacciyar cuta yana da cutar Hurler, mai yiwuwa ka kunya da tsoro. Menene ma'anar wannan?
Definition
Cigabawar Hurler wani nau'i ne na cututtukan ajiya a cikin jikin da ke haifar da rashin ɗaya daga cikin enzyme. Harshen enzyme mai haɗari, alpha -L-iduronidase (IDUA) ya haifar da maye gurbi a cikin jigidar IDUA, jigon da aka samo a kan chromosome 4.
Yanayin ya bambanta da tsanani, amma yanayin ci gaba ne da ke tattare da tsarin jiki mai yawa.
Sanin Mucopolysaccharidoses (MPS)
Mucopolysaccaridoses (MPS) sune rukuni na cututtukan kwayoyin halitta wanda ƙananan enzymes jiki (sunadarai) sun ɓace ko kuma basu da yawa. MPS I cutar ta haifar da rashi a cikin wani enzyme da ake kira alpha-L-iduronidase (IUDA).
Lissafi-laidar L-iduronidase enzyme ta rushe dogayen sukari na sukari domin jikin su iya rarraba su. Ba tare da enzyme ba, manyan kwayoyin sukari suna inganta da kuma ci gaba da lalata sassa na jiki.
Ginin ƙwayoyin kwayoyin (glycosaminoglycans ko GAG) ya faru a cikin lysosomes (kwayar ta musamman a cikin kwayoyin dake dauke da nau'o'in enzymes). Daidaitan GAG da suke ginawa a cikin lysosomes sun bambanta a kowane irin nau'i na MPS.
Magungunan Hurler ko Hurler Cututtuka shine tarihin tarihi ga mafi girma na MPS.
Hurler shi ne sunan karshe na likita wanda ya fara bayanin yanayin.
Yarinya zai nuna alamun ƙwayar cutar a lokacin haihuwar amma a cikin 'yan watanni (da zarar kwayoyin sun fara gina a cikin kwayoyin) bayyanar cututtuka fara. Ana iya gano lalacewar ƙaƙa. Zuciyar zuciya da na numfashi suna shafar, kamar yadda wasu ƙwayoyin ciki ciki har da kwakwalwa.
Yaron yana girma amma ya kasance a baya a cikin jiki da kuma ci gaba da tunanin mutum saboda shekarunsa.
Yaron yana iya zama matsala da tafiya, kuma matsaloli tare da haɗin gwiwa ya bunkasa, haifar da sassan jiki kamar hannayensa don kada su iya warwarewa. Yara da annobar gaggawa suna shawo kan matsalolin kamar ƙwayar zuciya ko ciwon huhu.
Sanin asali
Sakamakon ganewar cututtuka na Hurler ya dogara ne akan bayyanar cututtukan yaron. Yawanci, alamun bayyanar na MPS mai tsanani na kasance a lokacin farkon shekara ta rayuwa, yayin da alamar bayyanar MPS ta halarta a cikin yara. Gwaji yana iya gano aikin rage yawan enzyme. Zai iya yiwuwa a gano cutar kan kwayoyin kwayoyin gwaji
Gwaji
Gwajin gwaji don MPS na na daga cikin Ƙwararren Bayanan Labaran da aka yi akan jariri a cikin sa'o'i 24. Gwajin gwaji a cikin dangin dangin dangi yana samuwa, amma idan an gano duka bambancin jinsi na IUDA a cikin iyali.
Mutane da yawa masu sana'a suna cikin kulawa da wani mutum tare da MPS I. Wani mai ba da shawara na halitta zai iya yin magana da iyalinsa da dangi dangane da hadarin da ke fama da ciwo.
Iri
Akwai nau'i guda bakwai na MPS da kuma MPS I na farko ne na subtype (wasu su ne MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV, MPS VI, MPS VII, da MPS IX).
Cutar cututtuka
Kowane ɓangaren MPS zai iya haifar da cututtuka daban-daban, amma yawancin cututtuka suna raba irin waɗannan alamun bayyanar, kamar:
- Girgijewar girgije (matsalolin ido)
- Ƙananan jiki (dwarfism ko a kasa na hali tsawo)
- Haɗin haɗin gwiwa
- Magana da kuma matsalolin sauraro
- Hernias
- Matsalar zuciya
Kwayoyin bayyanar cututtuka musamman zuwa Ciwon Hurler (da kuma Sanya da Hurler-Scheie syndrome) sun haɗa da:
- Bambanci bayyanar fuska (fuskar dysmorphism) wanda aka bayyana a matsayin "fasali" fasali
- Ƙara ƙaddamar da ƙwanƙara da hanta
- Hanyar hawan jirgin saman sama
- Cikakken ƙuƙumma
- Ƙãra da kuma ƙarfafa zuciyar tsoka ( cardiomypathy )
Abinda ya faru
A duka duniya, mai girma MPS na na faruwa a game da 1 a kowace 100,000 haihuwar kuma an rarraba zuwa kungiyoyi uku bisa ga irin, tsananin, da kuma hanyar da ci gaban bayyanar cututtuka.
MPS mai kulawa na ba shi da na kowa, yana faruwa a kasa da 1 a 500,000 haihuwa.
Gida
Hanyar ciwo mai gujewa an gaji a cikin wani motsi na kwance , yana nufin cewa yaron dole ne ya sami kashi biyu daga cikin jinsin ga MPS I, ɗaya daga kowane iyaye, domin ya haifar da cutar.
Tun da yanayin yana da haɗin kai, iyaye masu yawa da suke da ɗa tare da cututtukan Hurler suna damuwa da cewa ana iya haifar da wasu yara tare da rashin lafiya. Tun lokacin da yanayin ya kasance ba tare da jinkiri ba, iyaye biyu ana daukar su "masu sufuri." Wannan yana nufin cewa suna da kwafin jinsin wanda yake samar da enzyme kullum, da kuma kwafin wanda ba ya da. Yarinya dole ne ya gaji kwayoyin halitta daga iyaye biyu.
Hadarin cewa iyaye biyu da suke sufuri zasu sami ɗa tare da MPS I kashi 25 cikin dari. Har ila yau, akwai damar kashi 25 cikin dari wanda yaro zai sami gado na al'ada. Rabin lokaci (kashi 50) yaron zai sami gaji marar lahani daga iyaye ɗaya da kuma na al'ada daga ɗayan. Wadannan yara ba su da wata alamar wariyar launin fata, amma za su kasance mai dauke da ciwo irin su iyayensa.
Ranges
MPS Ina dauke da zama a kan bidiyon daga m (wanda aka rage) zuwa mai tsanani: Akwai babban mahimmanci a tsakanin waɗannan kuma babu wani bambance-bambance mai ban mamaki da aka gano tsakanin waɗannan.
- Matsayi mai sauƙi, ko wanda ba shi da kyau na MPS I ma an sani da ciwon sikila ko MPS IS : Yara da aka haifa tare da wannan nau'i suna da hankali na al'ada kuma zasu iya rayuwa zuwa tsufa.
- Wani mummunan yanayin MPS I ana iya sani da ciwo mai Hurler ko MPS IH : Yara da ke fama da mummunan hali na iya samun jinkirin tunanin mutum, gajeren lokaci, dindindin, maganganun magana da rashin jin daɗi, cututtukan zuciya, da kuma raguwa tsawon rai. Wadannan yara sukan bayyana a al'ada a lokacin haifuwa tare da marasa lafiya wanda ba a bayyana ba a farkon shekara ta rayuwa. Alal misali, a farkon shekara ta rayuwa zasu iya samun cututtuka na numfashi ko kuma hernia mai ɗorewa, yanayin da aka samo sau da yawa a cikin yara ba tare da ciwo ba. Abubuwan da suka shafi fatar jiki sun bayyana a farkon shekara ta farko, kuma matsaloli masu fama da ƙwaƙwalwar ƙwayar cuta. Bayan shekaru uku girma yawanci yana raguwa da muhimmanci kuma matsalolin hankali da jin matsaloli sun zama alamun.
- Wasu yara na iya samun hankali na al'ada da kuma mummunan cututtuka na jiki; ana iya kiran wannan yanayin Hurler-Scheie syndrome ko MPS I HS .
Wadannan bayyanar cututtuka sunyi kama da wadanda suka kasance na MPS II (Hunter syndrome) , amma ciwo na Hurler bayyanar cututtuka ya zama mafi tsanani fiye da irin cutar cututtukan Hunter A.
Jiyya
Babu magani a yanzu ga MPS I, don haka magani ya mayar da hankali ga warware matsalolin.
Magunguna - Aldurazyme (laronidase) ya maye gurbin mahaifa a cikin MPS I. Aldurazyme an ba shi ta hanyar jigilar intravenous sau ɗaya a kowane mako don rayuwa ga mutane tare da MPS I. Aldurazyme yana taimakawa wajen taimakawa bayyanar cututtuka amma ba magani bane.
Tsarin sakon kwayar jini - Wani magani na MPS I shine kututtukan karɓin ɓaɓɓuka , wanda ya sanya ƙwayoyin jiki a cikin jiki wanda zai haifar da enzyme bace. Duk da haka, yawancin yara da ke fama da cutar Hurler suna da cututtukan zuciya kuma basu iya shiga ta hanyar ilimin chemotherapy da ake bukata don dashi. Tsarin tantanin halitta, wanda zai yiwu, zai iya inganta rayuwa, ƙwarewar hankali, da ciwon zuciya da kuma rikitarwa na numfashi, amma yafi tasiri sosai wajen magance cututtukan skeletal.
Sources:
Jameson, E., Jones, S., da T. Remmington. Maganin gyare-gyaren Enzyme tare da Laronidase (Aldurazyme) don Biyan maganin Mucopolysaccharidosis Type I. Cochrane Database of Manyan Labarai . 2016. 4: CD009354.
Wraith, J., da S. Jones. Mucopolysaccharidosis Type I. Pediatric Endocrinology Reviews . 2014. 12 Gida 1: 102-6.
Wolf, D., Banerjee, S., Hackett, P., Whitley, C., McIvor, R., da W. Low. Gene Generapy for Neurologic Manifestations na Mucopolysaccharidoses. Kwararren Kwararru a Drug Delivery . 2015. 12 (2): 283-96.