Hunter syndrome: yintoni, ukuxilongwa, iimpawu kunye nonyango

Umxholo

• Iimpawu zeHunter Syndrome
• Uxilongo lwenziwa njani
• Unyango lweHunter Syndrome

I-Hunter Syndrome, ekwabizwa ngokuba yi-Mucopolysaccharidosis type II okanye i-MPS II, sisifo esingaqhelekanga semfuza esixhaphake kakhulu emadodeni abonakala ngokusilela kwe-enzyme, Iduronate-2-Sulfatase, ebalulekileyo ekusebenzeni ngokuchanekileyo komzimba.

Ngenxa yokwehla komsebenzi wale enzyme, kukho ukuqokelelana kwezinto ngaphakathi kwiiseli, okukhokelela kwiimpawu ezinzima kunye nokuvela okuqhubekayo, njengokuqina ngokudibeneyo, intliziyo kunye notshintsho lokuphefumla, ukubonakala kwezilonda zolusu kunye notshintsho lweeurological, umzekelo .

Iimpawu zeHunter Syndrome

Iimpawu zeHunter Syndrome, isantya sokunyuka kwesifo kunye nobukrakra ziyahluka ukusuka komnye umntu ukuya komnye, iimpawu eziphambili zesi sifo zezi:

• Utshintsho lwe-Neurological, kunye nethuba lokusilela kwengqondo;
• I-Hepatosplenomegaly, eyokwandiswa kwesibindi kunye ne-spleen, ekhokelela ekwandiseni kwesisu;
• Ukuqina ngokudibeneyo;
• Ubuso oburhabaxa nobungalinganiyo, obunentloko enkulu, impumlo ebanzi nemilebe eshinyeneyo, umzekelo;
• Ukuphulukana nokuva;
• Ukwanda kwe-retina;
• Kunzima ukuhamba;
• Izifo ezenzeka rhoqo ekuphefumlweni;
• Kunzima ukuthetha;
• Ukubonakala kwezilonda zesikhumba;
• Ubukho be-hernias, ikakhulu i-umbilical kunye ne-inguinal.

Kwiimeko ezinzima kakhulu kunokubakho notshintsho lwentliziyo, kunye nokwehla kokusebenza kwentliziyo, kunye notshintsho lokuphefumla, olunokuthi lubangele kuthintelo lomoya kunye nokwandisa amathuba osulelo lokuphefumla, olunokuba lukhulu.

Ngenxa yokuba iimpawu zibonakalisa kwaye ziguquka ngokwahlukileyo phakathi kwabaguli abanesi sifo, ubude bexesha lokuphila buyahluka, kunye nethuba elikhulu lokufa phakathi kweshumi lokuqala kunye nelesibini lobomi xa iimpawu zinzima kakhulu.

Uxilongo lwenziwa njani

Ukuxilongwa kwe-Hunter Syndrome kwenziwa ngugqirha okanye ngugqirha ngokweempawu ezibonakaliswe ngumntu kunye neziphumo zovavanyo oluthile. Kubalulekile ukuba ukuxilongwa kungenziwa kuphela ngokusekwe kubonakaliso lweklinikhi, njengoko iimpawu zifana kakhulu nezinye ze-mucopolysaccharidoses, kwaye kubalulekile ukuba ugqirha ayalele iimvavanyo ezithile. Funda ngakumbi malunga ne-mucopolysaccharidosis kunye nendlela yokuchonga.

Ke, kubalulekile ukulinganisa ii-glycosaminoglycans kumchamo kwaye, ubukhulu becala, kuvavanya amanqanaba omsebenzi we-enzyme Iduronate-2-Sulfatase kwii-fibroblast kunye neplasma. Ukongeza, ezinye iimvavanyo zihlala zicetyiswa ukuba ziqwalasele ubuzaza beempawu, ezinje nge-ultrasound, iimvavanyo zokuvavanya amandla okuphefumla, i-audiometry, uvavanyo lwe-neurological, uvavanyo lwamehlo kunye nokuqaqamba kwengqayi kunye nomqolo, umzekelo.

Unyango lweHunter Syndrome

Unyango lwe-Hunter Syndrome luyahluka ngokweempawu eziziswe ngabantu, nangona kunjalo ihlala icetyiswa ngugqirha ukuba enze i-enzyme endaweni yaso ukuthintela ukuqhubela phambili kwesi sifo kunye nokubonakala kweengxaki.

Ukongeza, ugqirha ucebisa unyango oluthile lweempawu ezibonisiweyo kunye nonyango olusebenzayo kunye nonyango lomzimba ukuze kukhuthazwe intetho kunye nokuhamba kwezigulana ezineSifo ukukhusela ubunzima bemoto kunye nokuthetha, umzekelo.