Uhlobo lwe-Mucopolysaccharidosis IV

Uhlobo lweMucopolysaccharidosis IV (MPS IV) 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 IV yaziwa nangokuthi yi-Morquio syndrome.

Kunezinye izinhlobo eziningana zama-MPS, kufaka phakathi:

• I-MPS I (i-Hurler syndrome; i-Hurler-Scheie syndrome; i-Scheie syndrome)
• I-MPS II (Hunter syndrome)
• I-MPS III (iSanfilippo syndrome)

I-MPS IV yisifo esizuzwe njengefa. Lokhu kusho ukuthi kudluliselwa emindenini. Uma bobabili abazali bephethe ikhophi engasebenzi yesakhi sofuzo esihlobene nalesi simo, ingane ngayinye inethuba lama-25% (1 koku-4) lokuthola lesi sifo. Lokhu kubizwa ngokuthi yisici se-autosomal recessive.

Kunezinhlobo ezimbili ze-MPS IV: uhlobo A nohlobo B.

• Uhlobo A lubangelwa isici ku- AMAGUGU isakhi sofuzo. Abantu abane-type A abanayo i-enzyme ebizwa ngokuthi N-acetylgalactosamine-6-sulfatase.
• Uhlobo B lubangelwa ukukhubazeka kufayela le- I-GLB1 isakhi sofuzo. Abantu abanohlobo B abakhiqizi ngokwanele i-enzyme ebizwa nge-beta-galactosidase.

Umzimba udinga la ma-enzyme ukudiliza imicu emide yama-molecule kashukela abizwa ngokuthi i-keratan sulfate. Kuzo zombili izinhlobo, amanani amakhulu ngokweqile ama-glycosaminoglycans akha emzimbeni. Lokhu kungalimaza izitho zomzimba.

Izimpawu zivame ukuqala phakathi kweminyaka eyi-1 no-3. Zifaka:

• Ukukhula okungajwayelekile kwamathambo, kufaka phakathi umgogodla
• Isifuba esimise okwensimbi esinezimbambo savutha ngezansi
• I-cornea enamafu
• Izici zobuso ezimangelengele
• Isibindi esandisiwe
• Inhliziyo ibubula
• IHernia emgodini
• Amalunga wehypermobile
• Ukungqongqoza ngamadolo
• Ikhanda elikhulu
• Ukulahleka komsebenzi wezinzwa ngaphansi kwentamo
• Isiqu esifushane esinomboko omfishane
• Amazinyo ahlukaniswe kabanzi

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba ukuze ahlole izimpawu ezibandakanya:

• Ukugoba okungavamile komgogodla
• I-cornea enamafu
• Inhliziyo ibubula
• IHernia emgodini
• Isibindi esandisiwe
• Ukulahleka komsebenzi wezinzwa ngaphansi kwentamo
• Isiqu esifushane (ikakhulukazi isiqu esifushane)

Ukuhlolwa komchamo kuvame ukwenziwa kuqala. Lezi zivivinyo zingabonisa ama-mucopolysaccharides angeziwe, kepha azikwazi ukunquma uhlobo oluthile lwe-MPS.

Ezinye izivivinyo zingafaka:

• Isiko legazi
• I-Echocardiogram
• Ukuhlolwa kofuzo
• Ukuhlolwa kokuzwa
• Ukuhlolwa kwesibani sesibani
• Isiko lesikhumba se-fibroblast
• Ama-X-ray amathambo amade, izimbambo nomgogodla
• I-MRI yokhakhayi olungezansi nentamo engaphezulu

Kuhlobo A, umuthi obizwa nge-elosulfase alfa (Vimizim), obuyisela esikhundleni se-enzyme elahlekile, ungazama. Inikezwa ngomthambo (IV, ngemithambo yegazi). Khuluma nomhlinzeki wakho ukuthola eminye imininingwane.

Ukwelashwa kokufaka esikhundleni se-enzyme akutholakali ngohlobo B.

Kuzo zombili izinhlobo, izimpawu ziphathwa njengoba zenzeka. Ukuhlanganiswa komgogodla kungavimbela ukulimala unomphela komgogodla kubantu abanamathambo entamo athuthukile.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi mayelana ne-MPS IV:

• I-National MPS Society - mpssociety.org
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/morquio-syndrome
• Inkomba yasekhaya ye-NIH Genetics - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

Umsebenzi wokuqonda (ikhono lokucabanga kahle) imvamisa kuyinto ejwayelekile kubantu abane-MPS IV.

Izinkinga zamathambo zingaholela ezinkingeni ezinkulu zempilo. Isibonelo, amathambo amancane aphezulu entanyeni angahle ashelele futhi alimaze umgogodla, abangele ukukhubazeka. Ukuhlinzwa ukulungisa lezi zinkinga kufanele kwenziwe uma kungenzeka.

Izinkinga zenhliziyo zingaholela ekufeni.

Lezi zinkinga zingenzeka:

• Izinkinga zokuphefumula
• Ukwehluleka kwenhliziyo
• Ukulimala komgogodla nokukhubazeka okungenzeka
• Izinkinga zombono
• Izinkinga zokuhamba ezihlobene nokugobeka okungavamile komgogodla nezinye izinkinga zamathambo

Shayela umhlinzeki wakho uma kwenzeka izimpawu ze-MPS IV.

Ukwelulekwa ngofuzo kunconyelwe imibhangqwana efuna ukuba nezingane futhi enomlando womndeni we-MPS IV. Ukuhlolwa ngaphambi kokubeletha kuyatholakala.

MPS IV; Isifo se-Morquio; Uhlobo lwe-Mucopolysaccharidosis IVA; Amalungu ePhalamende IVA; Ukushoda kweGalactosamine-6-sulfatase; Uhlobo lwe-Mucopolysaccharidosis IVB; MPS IVB; Ukushoda kwe-beta galactosidase; Isifo seLysosomal - uhlobo IV IV lwe-mucopolysaccharidosis

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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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