Yini iMucopolysaccharidosis nokuthi ilashwa kanjani

-Delile

• Izinhlobo ze-mucopolysaccharidosis
• Izimbangela ezingaba khona
• Ziyini izimpawu
• Yini ukuxilongwa
• Yelashwa kanjani

I-Mucopolysaccharidosis ibonakala ngeqembu lezifo ezitholwe njengefa ezibangelwa ukungabikho kwe-enzyme, enomsebenzi wokugaya ushukela obizwa nge-mucopolysaccharide, owaziwa nangokuthi yi-glucosaminoglycan.

Lokhu kuyivelakancane futhi kunzima ukuxilonga izifo, ngoba kuveza izimpawu ezifana kakhulu nezinye izifo, njengesibindi esandisiwe kanye nobende, ukukhubazeka kwamathambo namalunga, ukuphazamiseka okubukwayo nezinkinga zokuphefumula, ngokwesibonelo.

IMucopolysaccharidosis ayinalo ikhambi, kepha kungenziwa ukwelashwa okubambezela ukuvela kwesifo futhi kunikeze impilo engcono kumuntu. Ukwelashwa kuncike ohlotsheni lwe-mucopolysaccharidosis futhi kungenziwa ngokufakwa esikhundleni se-enzyme, ukufakelwa umnkantsha wethambo, ukwelashwa ngokomzimba noma imithi ngokwesibonelo.

Izinhlobo ze-mucopolysaccharidosis

I-Mucopolysaccharidosis ingaba yizinhlobo eziningana, ezihlobene ne-enzyme umzimba ongakwazi ukuyikhipha, ngaleyo ndlela kuveze izimpawu ezahlukahlukene zesifo ngasinye. Izinhlobo ezahlukene ze-mucopolysaccharidosis yilezi:

• Thayipha 1: I-Hurler, i-Hurler-Schele noma i-Schele syndrome;
• Thayipha 2: I-Hunter syndrome;
• Thayipha 3: Isifo seSanfilippo;
• Thayipha 4: Isifo sikaMorquio. Funda kabanzi ngohlobo lwe-mucopolysaccharidosis 4;
• Thayipha 6: Isifo seMaroteux-Lamy;
• Thayipha 7: I-Sly syndrome.

Izimbangela ezingaba khona

I-Mucopolysaccharidosis yisifo sofuzo esizuzwe njengefa, okusho ukuthi sidlula sisuka kubazali siye ezinganeni futhi siyisifo se-autosomal recessive, ngaphandle kohlobo II. Lesi sifo sibonakala ngokungakwazi komzimba ukukhiqiza i-enzyme ethile eyehlisa isithunzi se-mucopolysaccharides.

Ama-Mucopolysaccharides angoshukela wamaketanga amade, abalulekile ekwakhiweni kwezakhiwo zomzimba ezahlukahlukene, njengesikhumba, amathambo, uqwanga namathambo, aqoqana kulezi zicubu, kepha adinga ukuvuselelwa. Ngalokhu, ama-enzyme ayadingeka ukuwaphula, ukuze asuswe bese kufakwa ama-mucopolysaccharides amasha.

Kodwa-ke, kubantu abane-mucopolysaccharidosis, amanye ala ma-enzyme kungenzeka angabi khona ekuwohlokeni kwe-mucopolysaccharide, okwenza ukuthi umjikelezo wokuvuselela uphazamiseke, okuholela ekuqoqeni kwalaba shukela kuma-lysosomes amaseli omzimba, kuphazamisa ukusebenza kwawo nokunikeza ukuphakama kwezinye izifo nokungahambi kahle.

Ziyini izimpawu

Izimpawu ze-mucopolysaccharidosis zincike ohlotsheni lwesifo umuntu anaso futhi esiqhubekela phambili, okusho ukuthi siya ngokuba sibi kakhulu njengoba isifo siqhubeka. Ezinye zezimpawu nezimpawu yilezi:

• Isibindi esikhulisiwe nobende;
• Ukukhubazeka kwamathambo;
• Izinkinga ezihlangene nezokuhamba;
• Mfushane;
• Izifo zokuphefumula;
• I-hernia embilical noma inguinal;
• Izinkinga zokuphefumula nezenhliziyo;
• Izinkinga zokuzwa nokubona;
• I-apnea yokulala;
• Izinguquko ohlelweni oluphakathi lwezinzwa;
• Ikhanda likhulisiwe.

Ngaphezu kwalokho, abantu abaningi abahlushwa yilesi sifo nabo banesici sobuso be-morphology.

Yini ukuxilongwa

Ngokuvamile, ukuxilongwa kwe-mucopolysaccharidosis kuqukethe ukuhlolwa kwezimpawu nezimpawu nokuhlolwa kwelabhorethri.

Yelashwa kanjani

Ukwelashwa kuncike ohlotsheni lwe-mucopolysaccharidosis umuntu anayo, isimo sesifo kanye nezinkinga ezivelayo futhi okufanele zenziwe ngokushesha okukhulu.

Udokotela angancoma ukwelashwa esikhundleni se-enzyme, ukufakelwa umnkantsha wethambo noma izikhathi zokwelashwa ngokomzimba, isibonelo. Ngaphezu kwalokho, izinkinga ezibangwa yilesi sifo nazo kumele zilashwe.