Gangliosidosis, matšoao le kalafo ke eng

Litaba

• Matšoao a mantlha
• Mokhoa oa ho hlahloba o etsoa joang
• Kalafo ea gangliosidosis

Gangliosidosis ke lefu le sa tloaelehang la liphatsa tsa lefutso le khetholloang ke ho fokotseha kapa ho ba sieo ha ts'ebetso ea enzyme ea beta-galactosidase, e ikarabellang bakeng sa ho senyeha ha limolek'hule tse rarahaneng, tse lebisang ho bokelleng ha tsona bokong le litho tse ling.

Lefu lena le tebile haholo ha le hlaha lilemong tsa pele tsa bophelo mme ts'oaetso e etsoa ho ipapisitse le matšoao le litšobotsi tse hlahisitsoeng ke motho, le sephetho sa liteko tse bonts'ang tšebetso ea enzyme ea beta-galactosidase le boteng ea phetoho liphatseng tsa lefutso tsa GBL1, e ikarabellang ho laoleng ts'ebetso ea enzyme ena.

Matšoao a mantlha

Matšoao a "gangliosidosis" a fapana ho latela lilemo tseo a li hlahang, mme lefu lena le nkuoa le le bobebe ha matšoao a hlaha pakeng tsa lilemo tse 20 le 30:

• Tšoaea I kapa infantile gangliosidosis: Matšoao a hlaha pele ho likhoeli tse 6 'me a tšoauoa ka ho se sebetse hantle ha sistimi ea methapo, ho se utloe ho tsoelang pele le bofofu, ho fokola ha mesifa, ho utloahala lerata, ho holisa sebete le spleen, bokooa ba kelello, sefahleho se feteletseng le liphetoho tsa pelo, mohlala. Ka lebaka la palo e kholo ea matšoao a ka ntlafatsoang, mofuta ona oa gangliosidosis o nkuoa e le o tebileng ka ho fetesisa mme tebello ea bophelo ke lilemo tse 2 ho isa ho tse 3;
• Mofuta oa II oa Gangliosidosis: Mofuta ona oa gangliosidosis o ka hlalosoa e le lesea-kamora nako, ha matšoao a hlaha pakeng tsa lilemo tse 1 le 3, kapa bocha, ha a hlaha pakeng tsa lilemo tse 3 le tse 10. Matšoao a mantlha a mofuta ona oa "gangliosidosis" a lieha kapa a theola kholo ea kholo le kholo ea kelello, ho fokola ha boko le liphetoho ponong. Mofuta oa II oa Gangliosidosis o nkuoa o le boima bo itekanetseng mme tebello ea bophelo e fapana pakeng tsa lilemo tse 5 le 10;
• Mofuta oa II oa Gangliosidosis kapa motho e moholo: Matšoao a ka hlaha ho tloha ho lilemo tse 10, leha ho atile haholo ho hlaha lipakeng tsa lilemo tse 20 ho isa ho tse 30, 'me e tšoauoa ka ho thatafala ha mesifa le liphetoho masapong a mokokotlo, a ka bakang kyphosis kapa scoliosis, mohlala . Mofuta ona oa gangliosidosis o nkuoa o le bobebe, leha ho le joalo ho tiea ha matšoao ho ka fapana ho latela boemo ba ts'ebetso ea enzyme beta-galactosidase.

Gangliosidosis ke lefu la autosomal le feteletseng, ke hore, hore motho a hlahise lefu lena, ho hlokahala hore bonyane batsoali ba bona e be bajari ba lefutso le fetotsoeng. Kahoo, ho na le monyetla oa 25% oa motho ea tsoaloang ka phetoho ea mofuta oa GBL1 le 50% ea motho eo e leng mojari oa lefutso.

Mokhoa oa ho hlahloba o etsoa joang

Ho fumanoa ha gangliosidosis ho etsoa ka ho lekola litšobotsi tsa kliniki tse hlahisoang ke motho, joalo ka sefahleho se seholo, sebete se atolositsoeng le spleen, ho lieha ha psychomotor le liphetoho tsa pono, mohlala, tse atisang ho hlaha maemong a pele a lefu.

Ntle le moo, liteko li etsoa ho thusa ho netefatsa phumano, joalo ka litšoantšo tsa methapo ea pelo, palo ea mali, eo ho eona ho bonoang ha li-lymphocyte tse nang le vacuoles, tlhahlobo ea moroto, moo ho fumanoang maqhubu a phahameng a oligosaccharides morotong, le liphatsa tsa lefutso tlhahlobo, e ikemiselitseng ho supa phetoho e ikarabellang bakeng sa lefu lena.

Ho hlahlojoa ho ka etsoa hape nakong ea bokhachane ka ho etsa liteko tsa lefutso ho sebelisa sampole ea chorionic villus kapa lisele tsa amniotic fluid. Haeba tlhahlobo ena e le ntle, ho bohlokoa hore lelapa le tataisoe mabapi le matšoao ao ngoana a ka bang le 'ona bophelo bohle.

Kalafo ea gangliosidosis

Ka lebaka la maqhubu a tlase a lefu lena, ho fihlela joale ha ho na kalafo e tiileng, e nang le matšoao a laoloang, joalo ka phepo e lekaneng, ho lekola kholo, kalafo ea puo le physiotherapy ho susumetsa motsamao le puo.

Ntle le moo, ho etsoa liteko tsa mahlo le ho lekola likotsi tsa tšoaetso le lefu la pelo khafetsa.