Uhlobo lweMucopolysaccharidosis II

Uhlobo lweMucopolysaccharidosis II (MPS II) sisifo esinqabileyo apho umzimba ulahlekileyo okanye ungenayo ngokwaneleyo i-enzyme efunekayo 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 yi-Hunter syndrome.

Zininzi ezinye iintlobo ze-MPS, kubandakanya:

• 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 sisifo esifa njengelifa. Oku kuthetha ukuba kudluliswa kwiintsapho. Uhlobo oluchaphazelekayo lukwi-X chromosome. Amakhwenkwe ahlala echaphazeleka kuba eyifa njenge-X chromosome koonina. Oomama babo abanazo iimpawu zesi sifo, kodwa baphatha ikopi engasebenziyo yemfuza.

I-MPS II ibangelwa kukungabikho kwe-enzyme iduronate sulfatase. Ngaphandle kwale enzyme, amatyathanga eemolekyuli zeswekile akhula kwizicubu zomzimba ezahlukeneyo, ezenza umonakalo.

Ukuqala kwangoko, ukuqina kwesifo kuqala kungekudala emva kweminyaka yobudala be-2. Ukufika kade, ubumnene bangela ukuba iimpawu ezingathandekiyo zivele kamva ebomini.

Ekuqaleni-kwangoko, uhlobo olomeleleyo, iimpawu zibandakanya:

• Ukuziphatha gwenxa
• Ukusebenza kakhulu
• Umsebenzi wengqondo uba mandundu ngokuhamba kwexesha
• Ukukhubazeka okukhulu kwengqondo
• Iintshukumo zomzimba zikaJerky

Kwifom yokugqibela (ethambileyo), kunokubakho ukungabikho kwengqondo okusilelayo.

Kuzo zombini iifom, iimpawu zibandakanya:

• Isifo seCarpal tunnel
• Iimpawu ezirhabaxa zobuso
• Ukungeva (kuya kusiba mandundu ngokuhamba kwexesha)
• Ukwanda kokukhula kweenwele
• Ukuqina ngokudibeneyo
• Intloko enkulu

Uvavanyo lomzimba kunye neemvavanyo zingabonisa:

• I-retina engaqhelekanga (ngasemva kweliso)
• Ukunciphisa i-iduronate sulfatase enzyme kwi-serum yegazi okanye kwiiseli
• Ukumbombozela kwentliziyo kunye nezivalo zentliziyo ezivuzayo
• Ukwandiswa kwesibindi
• Ipeni eyandisiweyo
• IHernia kwi-groin
• Iikhontrakthi ezidibeneyo (ukusuka ekuqineni ngokudibeneyo)

Uvavanyo lunokubandakanya:

• Isifundo se-enzyme
• Uvavanyo lwe-Genetic lotshintsho kwi-iduronate sulfatase gene
• Uvavanyo lwe-Urine lwe-heparan sulphate kunye nedermatan sulphate

Iyeza elibizwa ngokuba yi-idursulfase (Elaprase), elinokuthatha indawo ye-enzyme iduronate sulfatase inokucetyiswa. Inikwa nge-vein (IV, ngaphakathi). Thetha nomboneleli wakho wezempilo ngolwazi oluthe kratya.

Ukufakelwa komongo wethambo kuye kwazanywa kwifom yokuqala kwangoko, kodwa iziphumo ziyahluka.

Ingxaki nganye yezempilo ebangelwa sesi sifo kufuneka inyangwe ngokwahlukeneyo.

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

• Umbutho weSizwe we-MPS-mpssociety.org
• Umbutho weSizwe woNxunguphalo oluNqabileyo-ararediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2
• IZiko loLwazi lweZifo zeMvelo zeNiH kunye neRare - rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii

Abantu abanefomathi yokuqala (enzima) bahlala bahlala iminyaka eli-10 ukuya kwengama-20. Abantu abanefomathi yokufika kade (enobulali) bahlala iminyaka engama-20 ukuya kwengama-60.

Ezi ngxaki zinokwenzeka:

• Ukuphazamiseka komoya
• Isifo seCarpal tunnel
• Ukuva ilahleko iba mandundu ngokuhamba kwexesha
• Ukuphulukana nokukwazi ukugqiba imisebenzi yokuphila yemihla ngemihla
• Ukuqina ngokudibeneyo okukhokelela kwizivumelwano
• Umsebenzi wengqondo uba mandundu ngokuhamba kwexesha

Fowunela umnikezeli wakho ukuba:

• Wena okanye umntwana wakho uneqela lezi mpawu
• Uyazi ukuba ungumphathi wemfuzo kwaye ucinga ukuba nabantwana

Ukucebisa ngemfuza kuyacetyiswa kwizibini ezifuna ukuba nabantwana kwaye ezinembali yosapho ye-MPS II. Uvavanyo lokukhulelwa luyafumaneka. Ukuvavanywa kwabaphethe izalamane zabasetyhini kwizalamane zamadoda achaphazelekayo nako kuyafumaneka.

MPS II; Isifo somzingeli; Isifo sokugcina isifo seLysosomal - uhlobo lwe-mucopolysaccharidosis II; Ukusilela kwe-Iduronate 2-sulfatase; Ukusilela kwe-I2S

UPyeritz RE. Izifo ezizuze njengelifa zezihlunu ezinxibelelanayo. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Umhla wama-25. IPhiladelphia, PA: Elsevier Saunders; Ngo-2016: isahluko 260.

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.