Yintoni iMucopolysaccharidosis kwaye inyangwa njani?

Umxholo

• Iindidi ze-mucopolysaccharidosis
• Izizathu ezinokubangela
• Ziintoni iimpawu
• Yintoni isifo
• Unyango lwenziwa njani

I-Mucopolysaccharidosis ibonakaliswa liqela lezifo ezizuze ilifa ezibangelwa kukungabikho kwe-enzyme, enomsebenzi wokugaya iswekile ebizwa ngokuba yi-mucopolysaccharide, ekwabizwa ngokuba yi-glucosaminoglycan.

Oku kunqabile kwaye kunzima ukufumanisa isifo, kuba sibonisa iimpawu ezifanayo nezinye izifo, ezinje ngesibindi esandisiweyo kunye ne-spleen, ukukhubazeka kwamathambo kunye namalungu, ukuphazamiseka okubonakalayo kunye neengxaki zokuphefumla, umzekelo.

I-Mucopolysaccharidosis ayinanyango, kodwa unyango lunokwenziwa olunciphisa ukuvela kwesi sifo kwaye lubonelele ngobomi obungcono kumntu. Unyango luxhomekeke kuhlobo lwe-mucopolysaccharidosis kwaye lunokwenziwa ngokutshintsha kwe-enzyme, ukufakelwa komongo wethambo, unyango lomzimba okanye amayeza umzekelo.

Iindidi ze-mucopolysaccharidosis

I-Mucopolysaccharidosis inokuba ziindidi ezininzi, ezinxulumene ne-enzyme umzimba ongakwaziyo ukuyivelisa, oko ke kubonisa iimpawu ezahlukeneyo zesifo ngasinye. Iindidi ezahlukeneyo ze-mucopolysaccharidosis zezi:

• Uhlobo lwe-1: I-Hurler, i-Hurler-Schele okanye i-Schele syndrome;
• Uhlobo lwe-2: Isifo somzingeli;
• Uhlobo lwe-3: Isifo sikaSanfilippo;
• Uhlobo lwe-4: Isifo sikaMorquio. Funda ngakumbi malunga ne-mucopolysaccharidosis yohlobo lwe-4;
• Uhlobo lwe-6: Isifo seMaroteux-Lamy;
• Uhlobo lwe-7: Isifo seSly.

Izizathu ezinokubangela

I-Mucopolysaccharidosis sisifo semfuza esizuzwe njengelifa, oko kuthetha ukuba sidlula kubazali siye ebantwaneni kwaye sisifo esihamba sigqitha, ngaphandle kohlobo II. Esi sifo sibonakala ngokungakwazi komzimba ukuvelisa i-enzyme ethile ehlambalaza i-mucopolysaccharides.

IiMucopolysaccharides ziiswekile zetyathanga elide, zibalulekile ekwakhiweni kwezakhiwo zomzimba ezahlukeneyo, ezinjengesikhumba, amathambo, intlala kunye nemisipha, eqokelelana kwezi zihlunu, kodwa ekufuneka zihlaziyiwe. Ukulungiselela le nto, ii-enzymes ziyafuneka ukuzaphula, ukuze zisuswe kwaye kutshintshwe ii-mucopolysaccharides ezintsha.

Nangona kunjalo, kubantu abane-mucopolysaccharidosis, ezinye zezi enzymes zisenokungabikho ekonakaleni kwe-mucopolysaccharide, ebangela ukuba umjikelo wokuhlaziya uphazamiseke, ukhokelela ekufumaneni kwezi shukela kwii-lysosomes zeeseli zomzimba, zithintela ukusebenza kwazo kunye nokunika ukunyuka kwezinye izifo kunye nokungalunganga.

Ziintoni iimpawu

Iimpawu ze-mucopolysaccharidosis zixhomekeka kuhlobo lwesifo umntu anaso kwaye siqhubeka, oko kuthetha ukuba siya sisiba mandundu njengoko isifo siqhubeka. Ezinye zeempawu kunye neempawu zezi:

• Ukwandiswa kwesibindi kunye ne-spleen;
• Ukukhubazeka kwamathambo;
• Iingxaki zokudibanisa nokuhamba;
• Mfutshane;
• Izifo zokuphefumula;
• I-hernia okanye i-inguinal hernia;
• Ukuphazamiseka kwentliziyo nokuphefumla;
• Iingxaki zokuva nokubona;
• Ukulala;
• Utshintsho kwiNkqubo yeNervous Central;
• Intloko yandisiwe.

Ukongeza, uninzi lwabantu abaphethwe sesi sifo banempawu zokuziphatha zobuso.

Yintoni isifo

Ngokubanzi, ukuxilongwa kwe-mucopolysaccharidosis kubandakanya ukuvavanywa kweempawu kunye neempawu kunye novavanyo lwelabhoratri.

Unyango lwenziwa njani

Unyango luxhomekeke kuhlobo lwe-mucopolysaccharidosis umntu anayo, imeko yesifo kunye neengxaki ezivela kwaye kufuneka zenziwe ngokukhawuleza.

Ugqirha unokucebisa unyango lwe-enzyme, ukutshintshwa komongo wethambo okanye iiseshoni zonyango, umzekelo. Ukongeza, iingxaki ezibangelwa sesi sifo kufuneka zinyangwe.