Uhlobo lwe-Mucopolysaccharidosis I

Uhlobo lweMucopolysaccharidosis I (MPS I) 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). Amalungu ePhalamende I yiwona avame kakhulu.

Kunezinye izinhlobo eziningana zama-MPS, kufaka phakathi:

• I-MPS II (Hunter syndrome)
• I-MPS III (iSanfilippo syndrome)
• I-MPS IV (iMorquio syndrome)

Amalungu ePhalamende ngiwathola njengefa, okusho ukuthi abazali bakho kumele basidlulisele kuwe lesi sifo. Uma bobabili abazali bephethe ikhophi engasebenziyo yofuzo oluhlobene nalesi simo, ingane ngayinye inethuba lama-25% (1 koku-4) lokuthola lesi sifo.

Abantu abane-MPS angenzi i-enzyme ebizwa nge-lysosomal alpha-L-iduronidase. Le enzyme isiza ukudiliza amaketanga amade amangqamuzana kashukela abizwa ngama-glycosaminoglycans. La ma-molecule atholakala kuwo wonke umzimba, imvamisa ku-mucus nakuluketshezi oluzungeze amalunga.

Ngaphandle kwe-enzyme, ama-glycosaminoglycans akha futhi alimaze izitho, kufaka phakathi nenhliziyo. Izimpawu zingahluka kusuka kumnene kuya kokubi. Ifomu elimnene libizwa ngokuthi yi-MPN encishisiwe futhi ifomu elibi libizwa ngama-MPS aqatha.

Izimpawu ze-MPS Ngivame ukuvela phakathi kweminyaka yobudala eyi-3 kuye kweyi-8. Izingane ezine-MPS ezinzima ngiba nezimpawu ngaphambi kwalabo abanefomu elibi kakhulu.

Ezinye zezimpawu zifaka:

• Amathambo angajwayelekile emgogodleni
• Ukwehluleka ukuvula ngokugcwele iminwe (uzipho lwesandla)
• Ama-corneas anamafu
• Izithulu
• Ukukhula okumisiwe
• Izinkinga ze-valve yenhliziyo
• Izifo ezihlangene, kufaka phakathi ukuqina
• Ukukhubazeka kwengqondo okuya ngokuya ngokuhamba kwesikhathi kuma-MPS aqatha I
• Izici zobuso ezijiyile, ezinamafutha ngebhuloho eliphansi lamakhala

Kwezinye izifundazwe, izingane zihlolelwa ama-MPS I njengengxenye yokuhlolwa kokuzalwa kwezingane ezisanda kuzalwa.

Okunye ukuhlolwa okungenziwa ngokuya ngezimpawu, kufaka:

• ECG
• Ukuhlolwa kofuzo kwezinguquko kuhlobo lwe-alpha-L-iduronidase (IDUA)
• Ukuhlolwa komchamo ukuthola i-mucopolysaccharides eyengeziwe
• I-X-ray yomgogodla

Kunganconywa ukwelashwa okufaka esikhundleni se-enzyme. Umuthi, obizwa nge-laronidase (Aldurazyme), unikezwa ngomthambo (IV, ngemithambo). Ingena esikhundleni se-enzyme elahlekile. Khuluma nomhlinzeki wengane yakho ukuthola eminye imininingwane.

Ukuzama ukufakelwa umnkantsha wethambo sekuzamile. Ukwelashwa kube nemiphumela exubile.

Ezinye izindlela zokwelashwa zincike ezithweni ezithintekile.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi mayelana ne-MPS I:

• I-National MPS Society - mpssociety.org
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
• Isikhungo Sokwaziswa se-NIH Genetic and Rare Diseases - rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i

Izingane ezinamalungu ePhalamende anzima ngivame ukungenzi kahle. Izinkinga zabo zempilo ziba zimbi ngokuhamba kwesikhathi, okuholela ekufeni eneminyaka eyi-10.

Izingane ezinamalungu we-MPS ancishisiwe (nginezinkinga) zempilo nginezinkinga ezimbalwa zezempilo, eziningi zazo ziphila impilo ejwayelekile ibe ngabantu abadala.

Shayela umhlinzeki wakho uma:

• Unomlando womndeni wama-MPS I futhi ucabanga ukuba nezingane
• Ingane yakho iqala ukukhombisa izimpawu zama-MPS I

Ochwepheshe bancoma ukwelulekwa nokuhlolwa kofuzo kwabashadikazi abanomlando womndeni wama-MPS I abacabanga ukuba nezingane. Ukuhlolwa ngaphambi kokubeletha kuyatholakala.

Ukushoda kwe-Alpha-L-iduronate; Uhlobo lwe-Mucopolysaccharidosis I; Amalungu ePhalamende aqatha mina; Amalungu ePhalamende anciphisiwe I; Amalungu ePhalamende I H; MPS I S; Isifo se-Hurler; I-Scheie syndrome; Isifo se-Hurler-Scheie; Ama-MPS 1 H / S; Isifo seLysosomal - uhlobo lwe-mucopolysaccharidosis I

• Ibhuloho elingaphansi lamakhala

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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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