Uhlobo lwe-Mucopolysaccharidosis II

Uhlobo lweMucopolysaccharidosis II (MPS II) yisifo esingajwayelekile lapho umzimba ulahlekile noma ungenayo i-enzyme edingekayo yokwephula amaketanga amade amangqamuzana kashukela. Lawa maketanga ama-molecule abizwa ngama-glycosaminoglycans (phambilini abizwa nge-mucopolysaccharides). Ngenxa yalokhu, ama-molecule akheka ezingxenyeni ezihlukene zomzimba futhi abangele izinkinga zempilo ezahlukahlukene.

Isimo singeqembu lezifo ezibizwa nge-mucopolysaccharidoses (MPSs). I-MPS II yaziwa nangokuthi yi-Hunter syndrome.

Kunezinye izinhlobo eziningana zama-MPS, kufaka phakathi:

• I-MPS I (i-Hurler syndrome; i-Hurler-Scheie syndrome; i-Scheie syndrome)
• I-MPS III (iSanfilippo syndrome)
• I-MPS IV (iMorquio syndrome)

I-MPS II yisifo esizuzwe njengefa. Lokhu kusho ukuthi kudluliselwa emindenini. Uhlobo oluthintekile luku-X chromosome. Abafana bavame ukuthinteka ngoba bathola i-X chromosome komama babo. Omama babo abanazo izimpawu zalesi sifo, kodwa baphatha ikhophi engasebenziyo yofuzo.

I-MPS II ibangelwa ukuntuleka kwe-enzyme iduronate sulfatase. Ngaphandle kwale enzyme, amaketanga ezinhlayiya zikashukela akha ezicutshini zomzimba ezahlukahlukene, adala umonakalo.

Ukuqala kokuqala, isimo esibi sesifo siqala ngemuva nje kweminyaka yobudala engu-2. Ukufika sekwephuzile, ifomu elincane libangela ukuthi izimpawu ezinzima kakhulu zivele kamuva empilweni.

Ekuqaleni kokuqala, isimo esinzima, izimpawu zifaka:

• Ukuziphatha ngolaka
• Ukungasebenzi kahle
• Umsebenzi wengqondo uba mubi ngokuhamba kwesikhathi
• Ukukhubazeka okukhulu kwengqondo
• Ukunyakaza komzimba kukaJerky

Ngefomu sekwephuzile (elimnene), kungabakhona ukuthamba kwengqondo okungatheni.

Kuzo zombili izinhlobo, izimpawu zifaka:

• I-Carpal tunnel syndrome
• Izici ezimangele zobuso
• Izithulu (ziba zimbi ngokuhamba kwesikhathi)
• Ukukhula kwezinwele okukhulayo
• Ukuqina okuhlangene
• Ikhanda elikhulu

Ukuhlolwa komzimba nokuhlolwa kungakhombisa:

• I-retina engajwayelekile (emuva kweso)
• Kwehle i-iduronate sulfatase enzyme egazini le-serum noma kumaseli
• Ukububula kwenhliziyo nama-valve wenhliziyo avuzayo
• Isibindi esandisiwe
• Ubende obukhulisiwe
• IHernia emgodini
• Izinkontileka ezihlangene (kusuka ekuqineni ngokuhlanganyela)

Ukuhlolwa kungafaka:

• Ucwaningo lwe-enzyme
• Ukuhlolwa kofuzo ngoshintsho kuhlobo lwe-iduronate sulfatase
• Ukuhlolwa komchamo kwe-heparan sulfate ne-dermatan sulfate

Umuthi obizwa nge-idursulfase (Elaprase), ongena esikhundleni se-enzyme iduronate sulfatase unganconywa. Inikezwa ngomthambo (IV, ngemithambo yegazi). Khuluma nomhlinzeki wakho wezokunakekelwa kwempilo ukuthola eminye imininingwane.

Ukufakelwa komnkantsha we-Bone kuzamile ekuqaleni, kepha imiphumela ingahluka.

Inkinga ngayinye yezempilo ebangelwa yilesi sifo kufanele ilashwe ngokuhlukile.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi mayelana ne-MPS II:

• I-National MPS Society - mpssociety.org
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2
• Isikhungo Sokwaziswa se-NIH Genetic and Rare Diseases - rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii

Abantu abanefomu lokuqala (elinzima) bavame ukuhlala iminyaka eyi-10 kuye kwengama-20. Abantu abanefomu lokufika sekwedlule isikhathi (ubumnene) bavame ukuhlala iminyaka engama-20 kuye kwangama-60.

Lezi zinkinga zingenzeka:

• Ukuvinjelwa komoya
• I-Carpal tunnel syndrome
• Ukuzwa ukulahlekelwa okuya ngokuya ngokuhamba kwesikhathi
• Ukulahleka kwekhono lokuqedela imisebenzi yokuphila yansuku zonke
• Ukuqina okuhlangene okuholela ezinkontilekeni
• Umsebenzi wengqondo oba mubi ngokuhamba kwesikhathi

Shayela umhlinzeki wakho uma:

• Wena noma ingane yakho uneqembu lalezi zimpawu
• Uyazi ukuthi ungumphathi wezakhi zofuzo futhi ucabanga ukuba nezingane

Ukwelulekwa ngofuzo kunconyelwe imibhangqwana efuna ukuba nezingane futhi enomlando womndeni we-MPS II. Ukuhlolwa ngaphambi kokubeletha kuyatholakala. Ukuhlolwa kwezinkampani ezithwala izihlobo zabesifazane besilisa abathintekile nakho kuyatholakala.

MPS II; I-Hunter syndrome; Isifo sokugcina i-Lysosomal - uhlobo lwe-mucopolysaccharidosis II; Ukushoda kwe-Iduronate 2-sulfatase; Ukushoda kwe-I2S

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I-Spranger JW. I-Mucopolysaccharidoses. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 107.

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