Mucopolysaccharidosis nau'in I

Mucopolysaccharidosis type I (MPS I) cuta ce mai saurin gaske wanda jiki ke ɓacewa ko kuma ba shi da isasshen enzyme da ake buƙata don lalata dogon sarƙoƙin ƙwayoyin sukari. Ana kiran waɗannan sarƙoƙin ƙwayoyin glycosaminoglycans (ana kiransu mucopolysaccharides). A sakamakon haka, kwayoyin suna haduwa a sassa daban daban na jiki kuma suna haifar da matsaloli iri daban-daban na lafiya.

Yanayin yana cikin ƙungiyar cututtukan da ake kira mucopolysaccharidoses (MPSs). MPS I ya fi kowa.

Akwai wasu nau'ikan MPS da yawa, gami da:

• MPS II (Hunter ciwo)
• MPS III (Sanfilippo ciwo)
• MPS IV (Morquio ciwo)

An gaji MPS I, wanda ke nufin cewa dole ne iyayenku su watsa muku cutar. Idan iyaye biyu suna dauke da kwayar halittar da ba ta aiki ba dangane da wannan yanayin, kowane ɗayansu na da damar 25% (1 cikin 4) na cutar.

Mutanen da ke da MPS Ban yin enzyme da ake kira lysosomal alpha-L-iduronidase. Wannan enzyme yana taimakawa wajen ragargaza sarƙoƙin ƙwayoyin sukari da ake kira glycosaminoglycans. Ana samun waɗannan ƙwayoyin a cikin jiki, sau da yawa a cikin ƙashi da ruwa a kewayen gidajen.

Ba tare da enzyme ba, glycosaminoglycans na ginawa da lalata gabobi, gami da zuciya. Kwayar cutar na iya zama daga mara nauyi zuwa mai tsanani. Matsakaicin tsari ana kiransa MPS I wanda aka yiwa rauni kuma mai tsananin shi ake kira mai tsanani MPS I.

Kwayar cututtukan MPS Mafi yawanci na kan bayyana tsakanin shekaru 3 zuwa 8. Yara masu fama da matsanancin ƙarfi na MPS Na ci gaba da bayyanar cututtuka fiye da waɗanda ke da rauni sosai.

Wasu daga cikin alamun sun hada da:

• Kasusuwa mara kyau a cikin kashin baya
• Rashin iya buɗe yatsun hannu (hannun kambori)
• Girgizar girgije
• Kurma
• Dakatar da ci gaba
• Matsaloli na bugun zuciya
• Hadin gwiwa tare, gami da taurin kai
• Rashin lafiyar hankali wanda ke ƙara lalacewa a cikin lokaci a cikin MPS I mai tsanani
• Hanyoyin fuska masu kauri, mara kyau tare da gada mai ƙaran hanci

A wasu jihohin, ana gwada jarirai don MPS I a matsayin wani ɓangare na gwajin gwajin haihuwa.

Sauran gwaje-gwajen da za'a iya yi dangane da alamomin, sun haɗa da:

• ECG
• Gwajin kwayar halitta don canje-canje ga kwayar alpha-L-iduronidase (IDUA)
• Gwajin fitsari don ƙarin mucopolysaccharides
• X-ray na kashin baya

Ana iya ba da shawarar maye gurbin enzyme. Maganin, wanda ake kira laronidase (Aldurazyme), ana bayar dashi ta jijiya (IV, intravenously). Yana maye gurbin enzyme da ya ɓace. Yi magana da mai ba da yaron don ƙarin bayani.

An gwada dashen ƙashi Maganin ya sami sakamako daban-daban.

Sauran jiyya sun dogara da gabobin da abin ya shafa.

Waɗannan albarkatun na iya samar da ƙarin bayani game da MPS I:

• MPungiyar MPS ta --asa - mpssociety.org
• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
• NIH Cibiyar Bayanai na Halitta da Rare Bayanai - rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i

Yaran da ke fama da matsanancin wahala MPS Yawanci ba na yin kyau. Matsalolin lafiyarsu suna taɓarɓarewa lokaci, yana haifar da mutuwa ta shekara 10.

Yaran da ke da karancin MPS Ina da karancin matsalolin kiwon lafiya, tare da yawancinsu suna rayuwa daidai cikin manya.

Kira mai ba da sabis idan:

• Kuna da tarihin iyali na MPS I kuma kuna la'akari da samun yara
• Childanka ya fara fara bayyanar alamun MPS I

Masana sun ba da shawarar ba da shawara game da kwayoyin halitta da gwaji don ma'aurata tare da tarihin dangi na MPS I waɗanda ke la'akari da samun yara. Akwai gwajin haihuwa.

Rashin Alpha-L-iduronate; Mucopolysaccharidosis iri Na; Mai tsananin MPS I; Tenaddamar da MPS I; MPS I H; MPS I S; Ciwon Hurler; Ciwon Scheie; Ciwon Hurler-Scheie; MPS 1 H / S; Cutar cututtukan Lysosomal - nau'in mucopolysaccharidosis I

• Nasalananan gada ta hanci

Pyeritz RE. Cututtukan gado na kayan haɗi. A cikin: Goldman L, Schafer AI, eds. Magungunan Goldman-Cecil. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016: babi na 260.

Spranger JW. Mucopolysaccharidoses. A cikin: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi 107.

Turnpenny PD, Ellard S. Inborn kurakurai na metabolism. A cikin: Turnpenny PD, Ellard S, eds. Abubuwan Emery na Kwayoyin Halitta na Lafiya. 15th ed. Philadelphia, PA: Elsevier; 2017: babi na 18.