Uhlobo lweMucopolysaccharidosis III

Uhlobo lweMucopolysaccharidosis III (MPS III) sisifo esinqabileyo apho umzimba ulahlekileyo okanye ungenazo ii-enzymes ezithile ezifunekayo ukuze kudilizwe 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 II ikwabizwa ngokuba yiSanfilippo 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 IV (iMorquio syndrome)

I-MPS III 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.

I-MPS III yenzeka xa ii-enzymes ezifunekayo ukwaphula ikhonkco leswekile ye-heparan zilahlekile okanye zinesiphene.

Zine iindidi eziphambili zeMPS III. Uhlobo umntu analo luxhomekeke ekubeni yeyiphi i-enzyme echaphazelekayo.

• Uhlobo A lubangelwa sisiphene kwifayile SGSH gene kwaye lolona hlobo luqatha. Abantu abanolu hlobo abanalo uhlobo oluqhelekileyo lwe-enzyme ebizwa ngokuba yi-heparan U-N-sulphate.
• Uhlobo B lubangelwa sisiphene kwifayile ye- NAGLU Uhlobo. Abantu abanolu hlobo abalahlekanga okanye abavelisi ngokwaneleyo i-alpha-U-N-acetylglucosaminidase.
• Uhlobo C lubangelwa sisiphene kwifayile ye- I-HGSNAT Uhlobo. Abantu abanolu hlobo balahlekile okanye abavelisi ngokwaneleyo i-acetyl-CoA: i-alpha-glucosaminide N-acetyltransferase.
• Uhlobo D lubangelwa sisiphene kwifayile I-GNS Uhlobo. Abantu abanolu hlobo bayalahleka okanye abavelisi ngokwaneleyo U-N-acetylglucosamine 6-sulfatase.

Iimpawu zihlala zivela emva konyaka wokuqala wobomi. Ukwehla kwamandla okufunda ngokwesiqhelo kwenzeka phakathi kweminyaka emi-2 kunye ne-6. Umntwana unokuba nokukhula okuqhelekileyo kwiminyaka embalwa yokuqala, kodwa ukuphakama kokugqibela kungaphantsi komndilili. Ukulibaziseka kophuhliso kulandelwa kukuwohloka kwemeko yengqondo.

Ezinye iimpawu zingabandakanya:

• Iingxaki zokuziphatha, kubandakanya ukungasebenzi kakuhle
• Ubuso oburhabaxa obunamashiya amakhulu ahlangana embindini wobuso ngasentla kwempumlo
• Urhudo olunganyangekiyo
• Ukwandiswa kwesibindi kunye ne-spleen
• Ubunzima bokulala
• Amalungu aqinileyo anokunganweneli ngokupheleleyo
• Iingxaki zombono kunye nokulahleka kwendlebe
• Iingxaki zokuhamba

Umboneleli wezempilo uya kwenza uvavanyo lomzimba.

Kuya kwenziwa iimvavanyo zomchamo. Abantu abane-MPS III banenani elikhulu le-mucopolysaccharide ebizwa ngokuba yi-heparan sulfate kumchamo.

Olunye uvavanyo lunokubandakanya:

• Inkcubeko yegazi
• Echocardiogram
• Uvavanyo lwemfuzo
• Sika uviwo lwamehlo
• Inkcubeko ye-fibroblast yolusu
• IX-reyi yamathambo

Unyango lwe-MPS III lujolise ekulawuleni iimpawu. Akukho unyango oluthile kwesi sifo.

Ngolwazi oluthe kratya kunye nenkxaso, nxibelelana nomnye wale mibutho ilandelayo:

• Umbutho weSizwe weengxaki zoRare -rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• Isalathiso seKhaya le-NIH yemfuzo- ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Iqela leSanfilippo Foundation- iqelaanfilippo.org

I-MPS III ibangela iimpawu ezibonakalayo zenkqubo ye-nervous, kubandakanya ukukhubazeka kwengqondo okuqatha. Uninzi lwabantu abane-MPS III bahlala kwiminyaka yabo yokufikisa. Abanye baphila ixesha elide, ngelixa abanye abaneefom ezinzima bafa besebancinci. Iimpawu ziqine kakhulu kubantu abanohlobo A.

Ezi ngxaki zinokwenzeka:

• Ubumfama
• Ukungakwazi ukuzikhathalela
• Ukukhubazeka kwengqondo
• Ukonakala kwamathambo okuya kusiba kubi kakhulu kwaye ekugqibeleni kufuna ukusetyenziswa kwesitulo esinamavili
• Ukuxhuzula

Tsalela umnikezeli womntwana wakho ukuba umntwana wakho akabonakali ekhula okanye ekhula ngesiqhelo.

Jonga umboneleli wakho ukuba ucwangcisa ukuba nabantwana kwaye unembali yosapho ye-MPS III.

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

MPS III; Isifo sikaSanfilippo; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Isifo seLysosomal - uhlobo lwe-mucopolysaccharidosis III

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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.