Mucopolysaccharidosis nau'in II

Mucopolysaccharidosis type II (MPS II) wata 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 II kuma ana kiranta da cutar Hunter.

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

• MPS I (Ciwon Hurler; Ciwon Hurler-Scheie; Ciwon Scheie)
• MPS III (Sanfilippo ciwo)
• MPS IV (Morquio ciwo)

MPS II cuta ce ta gado. Wannan yana nufin an wuce ta cikin iyalai. Kwayar halittar da abin ya shafa tana kan X chromosome. Yara samari sun fi shafa saboda sun gaji X chromosome daga iyayensu mata. Iyayensu mata ba su da alamun cutar, amma suna ɗauke da kwayar halittar da ba ta aiki.

MPS II yana haifar da rashin enzyme iduronate sulfatase. Ba tare da wannan enzyme ba, sarƙoƙi na ƙwayoyin sukari suna haɗuwa cikin ƙwayoyin jiki da yawa, suna haifar da lalacewa.

Farkon-farawa, nau'in cuta mai tsanani yana farawa jim kaɗan bayan shekaru 2. A farkon-farkon, mai sauƙin yanayi na haifar da alamun rashin ƙarfi da za su bayyana daga baya a rayuwa.

A farkon-farkon, mummunan yanayi, alamun cutar sun haɗa da:

• Halin tashin hankali
• Rashin hankali
• Ayyukan hauka na ƙara lalacewa a kan lokaci
• Mai tsananin nakasa ilimi
• Jerky motsa jiki

A ƙarshen (m) tsari, ana iya samun laulayi zuwa ƙarancin tunani.

A cikin duka siffofin, alamun cututtuka sun haɗa da:

• Ciwon ramin rami na carpal
• Featuresananan siffofin fuska
• Rashin ji (yana daɗa lalacewa a kan lokaci)
• Growthara haɓakar gashi
• Iffarfin haɗin gwiwa
• Babban kai

Gwajin jiki da gwaje-gwaje na iya nuna:

• Mutuwar ido mara kyau (bayan ido)
• Rage iduronate sulfatase enzyme a cikin jini ko sel
• Zuciyar zuciya da baƙincikin zuciya
• Liverara hanta
• Pleara girman ciki
• Hernia a cikin duri
• Hadin gwiwar hadin gwiwa (daga taurin gwiwa)

Gwaje-gwaje na iya haɗawa da:

• Nazarin Enzyme
• Gwajin kwayoyin halitta don canji a cikin kwayar iduronate sulfatase
• Fitsarin fitsari na heparan sulfate da dermatan sulfate

Maganin da ake kira idursulfase (Elaprase), wanda ya maye gurbin iduronate sulfatase enzyme na iya bada shawarar. Ana bayar da shi ta jijiya (IV, intravenously). Yi magana da mai ba ka kiwon lafiya don ƙarin bayani.

An gwada dashen ƙashi na farkon don farkon-farkon tsari, amma sakamakon zai iya bambanta.

Kowace matsalar lafiya da wannan cuta ta haifar ya kamata a kula da ita daban.

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

• MPungiyar MPS ta --asa - mpssociety.org
• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2
• NIH Cibiyar Bayanai na Halitta da Rare Bayanai - rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii

Mutanen da ke da farkon-farkon (mai tsanani) yawanci suna rayuwa ne tsawon shekaru 10 zuwa 20. Mutanen da ke da farkon farkon (m) yawanci suna rayuwa shekaru 20 zuwa 60.

Wadannan rikitarwa na iya faruwa:

• Toshewar hanyar jirgin sama
• Ciwon ramin rami na carpal
• Rashin ji da kara muni lokaci
• Rashin ikon kammala ayyukan yau da kullun
• Starfin haɗin gwiwa wanda ke haifar da kwangila
• Aikin tunani wanda ke taɓarɓarewa a kan lokaci

Kira mai ba da sabis idan:

• Ku ko yaranku suna da rukuni na waɗannan alamun
• Ka sani kai mai jigilar kwayar halitta ne kuma kana tunanin samun yara

Ana ba da shawara kan dabi'un halitta don ma'aurata da suke son haihuwar yara kuma waɗanda ke da tarihin iyali na MPS II. Akwai gwajin haihuwa. Hakanan ana samun gwajin jigilar ga dangin mata na mazan da abin ya shafa.

MPS II; Ciwon Hunter; Lysosomal cuta cuta - mucopolysaccharidosis nau'in II; Rashin Iduronate 2-sulfatase; Rashin I2S

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.