Mucopolysaccharidosis nau'in III

Mucopolysaccharidosis type III (MPS III) cuta ce mai saurin gaske wanda jiki ke ɓacewa ko kuma ba shi da isassun wasu ƙwayoyin enzym 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 II kuma ana kiranta da Sanfilippo syndrome.

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

• MPS I (Ciwon Hurler; Ciwon Hurler-Scheie; Ciwon Scheie)
• MPS II (Hunter ciwo)
• MPS IV (Morquio ciwo)

MPS III 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.

MPS III na faruwa yayin da enzymes da ake buƙata don lalata sarkar sukarin heparan sulfate sun ɓace ko aibi.

Akwai manyan nau'ikan MPS III guda huɗu. Nau'in da mutum yake da shi ya dogara da cutar enzyme.

• Nau'in A ana haifar da shi ne a cikin SGSH kwayar halitta kuma shine mafi tsananin sifa. Mutane masu wannan nau'in ba su da nau'in enzyme da ake kira heparan N-sulfatase.
• Nau'in B yana faruwa ne tawaya a cikin NAGLU kwayar halitta Mutanen da ke da wannan nau'in sun ɓace ko kuma ba sa samar da isasshen haruffaN-acetylglucosaminidase.
• Nau'in C yana faruwa ne sakamakon lahani a cikin HGSNAT kwayar halitta Mutanen da ke da wannan nau'in sun ɓace ko kuma ba sa samar da isasshen acetyl-CoA: alpha-glucosaminide N-acetyltransferase.
• Nau'in D yana faruwa ne tawaya a cikin GNS kwayar halitta Masu irin wannan nau'in sun ɓace ko kuma ba sa wadatar wadataccen N-acetylglucosamine 6-sulfatase.

Kwayar cututtuka sau da yawa suna bayyana bayan shekarar farko ta rayuwa. Raguwa cikin ikon koyo yawanci yakan faru ne tsakanin shekaru 2 zuwa 6. Yaron na iya samun ci gaban al'ada yayin thean shekarun farko, amma tsayin ƙarshe yana ƙasa da matsakaici. Ci gaban da aka jinkirta yana biye da mummunan halin hankali.

Sauran cututtuka na iya haɗawa da:

• Matsalolin halayya, gami da hauhawar jiki
• Hanyoyin fuska mara kyau tare da girare masu nauyi wadanda suka hadu a tsakiyar fuska sama da hanci
• Ciwon mara na kullum
• Liverara hanta da baƙin ciki
• Matsalar bacci
• Jointsunƙun ƙafa masu ƙarfi waɗanda ba za su iya cika sosai ba
• Matsalar hangen nesa da rashin jin magana
• Matsalar tafiya

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki.

Za ayi gwajin fitsari. Mutanen da ke da MPS III suna da adadin kwayar halitta da ake kira mucoplysaccharide wanda ake kira heparan sulfate a cikin fitsari.

Sauran gwaje-gwaje na iya haɗawa da:

• Al'adar jini
• Echocardiogram
• Gwajin kwayoyin halitta
• Tsaguwa fitilar ido
• Fata fibroblast al'adu
• X-ray na ƙasusuwa

Jiyya na MPS III shine nufin kula da alamun. Babu takamaiman magani don wannan cuta.

Don ƙarin bayani da tallafi, tuntuɓi ɗayan ƙungiyoyi masu zuwa:

• Nationalungiyar forasa don Rare Rashin Lafiya --rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• NIH Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Sanungiyar Sanfilippo Foundation - teamsanfilippo.org

MPS III yana haifar da alamun bayyanar cututtukan ƙwayoyin cuta, gami da ƙarancin ilimi. Yawancin mutane da ke da MPS III suna rayuwa ne har zuwa lokacin samartaka. Wasu na rayuwa tsawon rai, yayin da wasu masu tsananin siffa ke mutuwa tun suna kanana. Kwayar cutar ta fi tsanani ga mutanen da ke da nau'in A.

Wadannan rikitarwa na iya faruwa:

• Makaho
• Rashin iya kulawa da kai
• Rashin hankali
• Lalacewar jijiya wanda a hankali yake ƙara lalacewa kuma ƙarshe yana buƙatar amfani da keken hannu
• Kamawa

Kira mai ba da sabis na yaro idan yaronku ba ze girma ko haɓakawa ba.

Duba likitan ku idan kun shirya haihuwa kuma kuna da tarihin iyali na MPS III.

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

MPS III; Ciwon Sanfilippo; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Lysosomal cuta cuta - mucopolysaccharidosis nau'in III

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.