Uhlobo lwe-Mucopolysaccharidosis IV

Uhlobo lweMucopolysaccharidosis IV (MPS IV) sisifo esinqabileyo apho umzimba ulahlekileyo okanye ungenayo ngokwaneleyo i-enzyme efunekayo ukwaphula imixokelelwane ende yeemolekyuli zeswekile. La matyathanga eemolekyuli abizwa ngokuba zii-glycosaminoglycans (eyayibizwa ngokuba yi-mucopolysaccharides). Ngenxa yoko, iimolekyuli zakha kwiindawo ezahlukeneyo zomzimba kwaye zibangela iingxaki zempilo ezahlukeneyo.

Imeko yeqela lezifo ezibizwa ngokuba yi-mucopolysaccharidoses (MPSs). I-MPS IV yaziwa ngokuba yiMorquio syndrome.

Zininzi ezinye iintlobo ze-MPS, kubandakanya:

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

I-MPS IV sisifo esifa njengelifa. Oku kuthetha ukuba kudluliswa kwiintsapho. Ukuba bobabini abazali baphethe ikopi engasebenziyo yemfuza enxulumene nale meko, umntwana ngamnye kubo une-25% (1 in 4) ithuba lokuphuhlisa esi sifo. Oku kubizwa ngokuba luphawu olusebenzayo lokuzimela.

Zimbini iindlela ze-MPS IV: uhlobo A kunye nohlobo B.

• Uhlobo A lubangelwa sisiphene kwifayile IIMPAWU Uhlobo. Abantu abane-type A abanayo i-enzyme ebizwa U-N-acetylgalactosamine-6-sulfatase.
• Uhlobo B lubangelwa sisiphene kwifayile ye- I-GLB1 Uhlobo. Abantu abanohlobo B abavelisi ngokwaneleyo i-enzyme ebizwa ngokuba yi-beta-galactosidase.

Umzimba udinga ezi enzymes ukophula imitya emide yeemolekyuli zeswekile ebizwa ngokuba yi-keratan sulfate. Kuzo zombini ezi ntlobo, izixa ezikhulu ngokungaqhelekanga ze-glycosaminoglycans zakha emzimbeni. Oku kungonakalisa amalungu.

Iimpawu zihlala ziqala phakathi kweminyaka eyi-1 kunye ne-3.

• Ukukhula ngokungaqhelekanga kwamathambo, kubandakanya umqolo
• Isifuba esimile ngentsimbi kunye neembambo zavutha ezantsi
• I-cornea enamafu
• Iimpawu zobuso ezibi
• Ukwandiswa kwesibindi
• Ukumbombozela kwentliziyo
• IHernia kwi-groin
• Ukudityaniswa kwehypermobile
• Ukubhutyuza amadolo
• Intloko enkulu
• Ukuphulukana nomsebenzi we-nerve ngaphantsi kwentamo
• Isiqu esifutshane nesiqu esifutshane
• Amazinyo ahlukeneyo ngokubanzi

Umboneleli wezempilo uya kwenza uvavanyo lomzimba ukukhangela iimpawu ezibandakanya:

• Ukujikeleza okungaqhelekanga komqolo
• I-cornea enamafu
• Ukumbombozela kwentliziyo
• IHernia kwi-groin
• Ukwandiswa kwesibindi
• Ukuphulukana nomsebenzi we-nerve ngaphantsi kwentamo
• Isiqu esifutshane (ngakumbi isiqu esifutshane)

Uvavanyo lomchamo luhlala lwenziwa kuqala. Ezi mvavanyo zinokubonisa i-mucopolysaccharides eyongezelelweyo, kodwa azinakho ukumisela uhlobo oluthile lwe-MPS.

Olunye uvavanyo lunokubandakanya:

• Inkcubeko yegazi
• Echocardiogram
• Uvavanyo lwemfuzo
• Uvavanyo lokuva
• Uvavanyo lwesibane sesibane
• Inkcubeko ye-fibroblast yolusu
• IX-reyi yamathambo amade, iimbambo, kunye nomqolo
• I-MRI yengqayi esezantsi nentamo ephezulu

Kuhlobo A, iyeza elibizwa ngokuba yi-elosulfase alfa (Vimizim), elingena endaweni ye-enzyme elahlekileyo, linokulingwa. Inikwa nge-vein (IV, ngaphakathi). Thetha nomboneleli wakho ngolwazi oluthe kratya.

Unyango lokutshintsha i-enzyme alufumaneki kudidi B.

Kuzo zombini iintlobo, iimpawu ziphathwa njengoko zenzeka. Ukuhlanganiswa komgogodla kunokuthintela ukulimala komgogodla ngokusisigxina kubantu abanamathambo entamo angaphucukanga.

Ezi zibonelelo zinokunika ulwazi oluthe kratya malunga ne-MPS IV:

• Umbutho weSizwe we-MPS-mpssociety.org
• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/morquio-syndrome
• Isalathiso seKhaya le-NIH yemfuzo- ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

Umsebenzi wokuqonda (ukukwazi ukucinga ngokucacileyo) kuqhelekile kubantu abane-MPS IV.

Iingxaki zamathambo zingakhokelela kwiingxaki ezinkulu zempilo. Umzekelo, amathambo amancinci aphezulu entanyeni anokutyibilika kwaye onakalise intambo yomqolo, abangele ukuba umzimba ukhubazeke. Utyando ukulungisa ezo ngxaki kufuneka lwenziwe ukuba kunokwenzeka.

Iingxaki zentliziyo zingakhokelela ekufeni.

Ezi ngxaki zinokwenzeka:

• Iingxaki zokuphefumla
• Ukumelwa yintliziyo
• Umonakalo wentambo yomqolo kunye nokukhubazeka okunokwenzeka
• Iingxaki zombono
• Iingxaki zokuhamba ezinxulumene nokugoba okungaqhelekanga komqolo kunye nezinye iingxaki zethambo

Tsalela umnikezeli wakho ukuba iimpawu ze-MPS IV ziyenzeka.

Ukucebisa ngemfuza kuyacetyiswa kwizibini ezifuna ukuba nabantwana kwaye ezinembali yosapho ye-MPS IV. Uvavanyo lokukhulelwa luyafumaneka.

MPS IV; Isifo seMorquio; Uhlobo lwe-Mucopolysaccharidosis IVA; IiMPS IVA; Ukusilela kweGalactosamine-6-sulfatase; Uhlobo lweMucopolysaccharidosis IVB; MPS IVB; Ukusilela kweBeta galactosidase; Ukugcinwa kwesifo seLysosomal - uhlobo lwe-mucopolysaccharidosis IV

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Isitshisi iJW. Iimpawu zeMucopolysaccharidoses. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 107.

I-Turnpenny PD, i-Ellard S. Iimpazamo zokuzalwa zemetabolism. Ku: Turnpenny PD, Ellard S, ii-eds. Izinto ze-Emery ze-Medical Genetics. Ngomhla we-15. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 18.