Mucopolysaccharidosis nau'in IV

Mucopolysaccharidosis type IV (MPS IV) 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 IV kuma ana kiranta da ciwo na Morquio.

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

• MPS I (Ciwon Hurler; Ciwon Hurler-Scheie; Ciwon Scheie)
• MPS II (Hunter ciwo)
• MPS III (Sanfilippo ciwo)

MPS IV cuta ce ta gado. Wannan yana nufin an wuce ta cikin iyalai. Idan iyaye biyu suna dauke da kwafin kwayar halittar da ba ta aiki ba dangane da wannan yanayin, kowane ɗayansu na da damar 25% (1 cikin 4) na ɓarkewar cutar. Wannan ana kiran sa yanayin haɓakar autosomal.

Akwai nau'i biyu na MPS IV: rubuta A da nau'in B.

• Nau'in A ana haifar da shi ne a cikin GALNS kwayar halitta Mutanen da ke da nau'ikan A ba su da wani enzyme da ake kira N-acetylgalactosamine-6-sulfatase.
• Nau'in B yana faruwa ne tawaya a cikin GLB1 kwayar halitta Mutanen da ke da nau'ikan B basa samar da isasshen enzyme da ake kira beta-galactosidase.

Jiki yana buƙatar waɗannan enzymes don ragargaza dogoran ƙwayoyi na sukari da ake kira keratan sulfate. A cikin nau'ikan biyu, yawancin ƙwayoyin glycosaminoglycans suna haɓaka cikin jiki. Wannan na iya lalata gabobi.

Kwayar cutar yawanci tana farawa tsakanin shekara 1 zuwa 3. Sun haɗa da:

• Rashin ci gaban ƙasusuwa, gami da kashin baya
• Kirji mai kama da kararrawa tare da haƙarƙari ya bayyana a ƙasan
• Girman girgije
• Hanyoyin fuska mara kyau
• Liverara hanta
• Zuciyar zuciya
• Hernia a cikin duri
• Haɗin haɗin Hypermobile
• Buga gwiwoyi
• Babban kai
• Rashin aikin jijiya a ƙasa da wuya
• Girman jiki tare da gajeren gajere musamman
• Hakoran da aka baje ko'ina

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki don bincika alamun alamun da suka haɗa da:

• Rashin daidaituwa na kashin baya
• Girman girgije
• Zuciyar zuciya
• Hernia a cikin duri
• Liverara hanta
• Rashin aikin jijiya a ƙasa da wuya
• Gajere (musamman gajere)

Ana yin gwajin fitsari da farko. Wadannan gwaje-gwajen na iya nuna karin mucopolysaccharides, amma ba za su iya tantance takamaiman nau'in MPS ba.

Sauran gwaje-gwaje na iya haɗawa da:

• Al'adar jini
• Echocardiogram
• Gwajin kwayoyin halitta
• Gwajin ji
• Tsaguwa-fitilar idanun ido
• Fata fibroblast al'adu
• X-ray na ƙasusuwa, haƙarƙarin, da kashin baya
• MRI na ƙananan ƙwanƙwasa da wuyansa na sama

Na nau'in A, za a iya gwada maganin da ake kira elosulfase alfa (Vimizim), wanda ya maye gurbin enzyme da ya ɓace. Ana bayar da shi ta jijiya (IV, intravenously). Yi magana da mai baka don ƙarin bayani.

Babu maganin maye gurbin Enzyme don nau'in B.

Ga duka nau'ikan, ana bi da alamun bayyanar yayin da suke faruwa. Haɗuwa da kashin baya na iya hana raunin kashin baya na dindindin a cikin mutanen da ƙasusuwan wuyansu ba su ci gaba ba.

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

• MPungiyar MPS ta --asa - mpssociety.org
• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/morquio-syndrome
• NIH Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

Aikin fahimi (iya tunani a sarari) yawanci al'ada ce ga mutanen da ke da MPS IV.

Matsalar ƙashi na iya haifar da manyan matsalolin lafiya. Misali, kananan kasusuwa a saman wuyanka na iya zamewa su lalata lakar kashin baya, su haifar da nakasa. Yin tiyata don gyara irin waɗannan matsalolin ya kamata a yi idan ya yiwu.

Matsalar zuciya na iya haifar da mutuwa.

Wadannan rikitarwa na iya faruwa:

• Matsalar numfashi
• Ajiyar zuciya
• Lalacewar laka da yiwuwar gurguntawa
• Matsalar hangen nesa
• Matsalar tafiya da ke da alaƙa da karkatarwar jijiya ta kashin baya da sauran matsalolin ƙashi

Kirawo mai ba ku sabis idan alamun bayyanar MPS IV sun faru.

Ana ba da shawara kan dabi'un halitta don ma'aurata da suke son haihuwar yara kuma waɗanda ke da tarihin iyali na MPS IV. Akwai gwajin haihuwa.

MPS IV; Ciwon Morquio; Mucopolysaccharidosis nau'in IVA; MPS IVA; Galactosamine-6-karancin sulfatase; Mucopolysaccharidosis nau'in IVB; MPS IVB; Beta rashi galactosidase; Lysosomal cuta cuta - mucopolysaccharidosis nau'in IV

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.