I-Hurler Syndrome

I-Hurler syndrome iwuhlobo olunzima kakhulu lwe-MPS1, isifo esingavamile sokugcinwa kwe-lysosomal esiphawulwa ukukhubazeka kwamathambo, ukukhubazeka kwengqondo, isifo senhliziyo, izinkinga zokuphefumula, isibindi esikhulisiwe kanye nobende, ubuso obuhlukile, nokuncipha kwesikhathi sokuphila.

I-mucopolysarcharidosis yohlobo I (MPS I) iyisimo esingajwayelekile. I-Hurler syndrome elinye igama le-MPS I. Amasistimu amaningi omzimba ayathinteka ezinganeni ezine-Hurler syndrome ngenxa yokunqwabelana okungavamile kwama-carbohydrate ayinkimbinkimbi kumaseli azo. Njengamanje, i-subtypes ye-Hurler syndrome ihlukaniswa ngokuthi "enzima" futhi "encishisiwe" (encane kakhulu). Esinye sezifo ezingaba ngu-50 ezihlukaniswe njengezinkinga zokugcinwa kwe-lysosomal yi-Hurler syndrome (LSD). I-genetic anomalies kulezi zifo ivimbela ama-lysosomes ekusebenzeni ngendlela evamile kumaseli womuntu.

Izinkinga ze-Hurler syndrome

I-Hurler syndrome ilethwa ukuguqulwa kofuzo lwe-IDUA, oluhlanganisa ukwakhiwa kwe-enzyme ethile i-alpha-L-iduronidase. Ama-lysosomes amaseli ngokuvamile ahlanganisa le phrotheni ethile, esiza ekuqhekekeni koshukela oyinkimbinkimbi owaziwa ngokuthi ama-glycosaminoglycans (GAGs). Ukushoda kwe-Alpha-L-iduronidase noma ukungabikho ngokuphelele kubangelwa ukungavamile kofuzo kufuzo lwe-IDUA, okuholela ekwakhekeni okuphambene kwama-GAG kumaseli omzimba.

Izingane ezithintekile zithola ikhophi eyodwa enephutha ye-IDUA kumzali ngamunye ngenxa yokuthi le nkinga iwufuzo futhi itholwa njengefa ngefomu le-autosomal recessive.

Izimpawu ze-Hurler syndrome

Ukuhluka okuncane kakhulu kwe-MPS I kungenzeka ngingabonisi noma yiziphi izimpawu noma izimpawu ezinganeni ezisanda kuzalwa ngesikhathi sokubeletha. Labo abanama-MPS aqinile ngingabonisa izimpawu zomtholampilo lapho ngizalwa.

Uphawu ngalunye lunobubanzi. Ezinye izingane zivele zithole izimpawu ezimbalwa, ezincane. Izinkinga ezinkulu zezifo zithinta ezinye izingane.

Izimpawu zingafaka:

• ukufiphala kwengxenye engaphambili yeso (i-corneal clouding)
• izifo ezivamile zokuphefumula okuphezulu
• amathoni akhulisiwe kanye/noma ama-adenoids
• izici zobuso ezihlukile (izici zobuso ezimahhadla)
• i-hernias

Ezinye izimpawu izingane ezingase zibe nazo ngokuhamba kwesikhathi zihlanganisa:

• ukuqina nokungasebenzi kwama-valve enhliziyo
• ukugoba okungavamile komgogodla (i-scoliosis, i-kyphosis)
• ukwanda kwesibindi nobende (hepatosplenomegaly)
• ukunqwabelana koketshezi oluzungeze ubuchopho (hydrocephalus)
• ukucindezelwa komgogodla
• ukwehla kwezinzwa okuqhubekayo

1. Noma yikuphi ukungahambi kahle kwesakhiwo se-valve yenhliziyo.
2. Ukungajwayelekile komgogodla owodwa noma ngaphezulu.
3. Ukungajwayelekile kwesistimu yamathambo.
4. Ukungajwayelekile kwamathoni.

Ukwelashwa kwe-Hurler syndrome

Izindlela zamanje ze-Hurler syndrome zenzelwe iziguli ezithile futhi zingase zihlanganise ukwelashwa kokubuyisela i-enzyme, ukufakelwa komnkantsha wamathambo, ukufakelwa kwe-hematopoietic stem cell kanye nokuphathwa kwezimpawu ezihlosiwe. Izinhlelo zokwelapha zidinga ukubambisana kwezinhlanga ezahlukene futhi zincike kakhulu eminyakeni yengane yakho kanye nokwethulwa kwesifo esithile.