Nā ʻōuli o Sanfilippo Syndrome a pehea e hana ai i ka lapaʻau

Anter

• Nā ʻōuli o Sanfilippo Syndrome
• Nā ʻano o Sanfilippo Syndrome
• Pehea e hana ai i ka lāʻau

ʻO Sanfilippo Syndrome, i ʻike ʻia ʻo mucopolysaccharidosis ʻano III a i ʻole MPS III, kahi maʻi maʻi kūlohelohe i hōʻike ʻia e ka hoʻemi ʻana o ka hana a i ʻole ka loaʻa ʻole o kahi enzyme i kuleana no ka hoʻohaʻahaʻa ʻana i ka ʻāpana o nā kō kō lōʻihi, heparan sulfate, e hōʻiliʻili ana i kēia mea i loko o nā hunaola. ka hopena i nā hōʻailona neurological, no ka laʻana.

Ke loli nei nā ʻōuli o Sanfilippo Syndrome, a hiki ke ʻike mua ʻia e nā pilikia i ka noʻonoʻo a lohi i ka hoʻomohala ʻōlelo ʻana. I nā kūlana holomua o ka maʻi, aia paha nā loli noʻonoʻo a me ka nalo ʻana o ka hihi, no laila he mea nui e ʻike ʻia ka maʻi i kona wā mua e pale i ka hoʻomaka ʻana o nā hōʻailona koʻikoʻi.

Nā ʻōuli o Sanfilippo Syndrome

ʻO nā ʻōuli o Sanfilippo Syndrome paʻakikī ka ʻike ʻana, no ka mea hiki ke huikau ʻia me nā hanana ʻē aʻe, akā hiki iā lākou ke ʻike ʻia i nā keiki mai 2 mau makahiki a ʻokoʻa e like me ke kahua o ka ulu ʻana o ka maʻi, nā ʻōuli nui:

• Nā pilikia aʻo;
• Ka ʻōlelo paʻakikī;
• Pākī pinepine;
• Nā maʻi kūlohelohe, ka hapanui i ka pepeiao;
• Hyperactivity;
• Hīnaʻi paʻakikī;
• Hemahema iwi iwi;
• ʻO ka ulu ʻana o ka lauoho ma nā kua o nā kaikamahine a me nā maka;
• Paʻa ka noʻonoʻo ʻana;
• Hoʻonui i ke ake a me nā ʻāpala.

I nā hihia ʻoi aku ka paʻakikī, ka mea maʻa mau i ka wā ʻōpio a me ke ʻano ʻōpio, nalowale iki nā ʻōuli o ke ʻano, akā naʻe ma muli o ka hōʻiliʻili nui o ka heparan sulfate i nā hunaola, ʻike ʻia nā hōʻailona neurodegenerative, e like me dementia, e like paha. hoʻopilikia ʻia, e hopena ana i ka nalo o ka hihiʻo a me ka ʻōlelo, hoʻemi i nā mākau kaʻa a me ka lilo o ke kaulike.

Nā ʻano o Sanfilippo Syndrome

Sanfilippo Syndrome hiki ke hoʻokaʻawale ʻia i 4 ʻano nui e like me ka enzyme ʻaʻohe mea a i ʻole hana haʻahaʻa. ʻO nā ʻano nui o kēia maʻi:

• ʻAno A a i ʻole Mucopolysaccharidosis III-A: Aia kekahi alo a alo paha o kahi ʻano i hoʻololi ʻia o ka enzyme heparan-N-sulfatase (SGSH), ʻo kēia ʻano o ka maʻi i manaʻo ʻia ʻoi aku ka koʻikoʻi a me ka mea maʻamau.
• ʻAno B a i ʻole Mucopolysaccharidosis III-B: Aia ka hemahema o ka enzyme alpha-N-acetylglucosaminidase (NAGLU);
• ʻAno C a i ʻole Mucopolysaccharidosis III-C: Aia ka hemahema o ka enzyme acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• ʻAno D a i ʻole Mucopolysaccharidosis III-D: Aia ka hemahema o ka enzyme N-acetylglycosamine-6-sulfatase (GNS).

Hoʻokumu ʻia ke kuhi o Sanfilippo Syndrome ma muli o ka loiloi o nā ʻōuli i hōʻike ʻia e ka mea maʻi a me ka hopena o nā hoʻokolohua hoʻokolohua. Paipai nui ʻia e hana i nā hoʻokolohua mimi e nānā i ka nui o nā kō lōʻihi, nā hoʻokolohua koko e nānā i ka hana o nā enzyme a e nānā i ke ʻano o ka maʻi, me ka hoʻāʻo ʻana i ka genetical i mea e ʻike ai ka mutation no ke ʻano o ka maʻi. .

Pehea e hana ai i ka lāʻau

Hoʻolālā ka lapaʻau no Sanfilippo Syndrome e hōʻemi i nā ʻōuli, a he mea nui e lawe ʻia e kahi hui multidisciplinary, ʻo ia hoʻi, i haku ʻia e kahi pediatrician a i ʻole ka loio, neurologist, orthopedist, ophthalmologist, psychologist, therapist ʻoihana a me ka physiotherapist, ʻo kahi laʻana, ua i loko o kēia maʻi maʻi ke holomua nā ʻōuli.

Ke hana ʻia ke kuanaʻike i nā wā mua o ka maʻi, hiki i ka hoʻoneʻe iwi iwi ke loaʻa nā hopena maikaʻi. Hoʻohui ʻia, i nā wā mua hiki ke pale aku i nā hōʻailona neurodegenerative a me nā mea e pili ana i ka motricity a me ka ʻōlelo e koʻikoʻi nui, no laila he mea nui ka loaʻa ʻana o ka physiotherapy a me nā ʻoihana ʻoihana ʻoihana, e laʻa me.

Eia hou, he mea nui inā aia kahi moʻolelo ʻohana a i ʻole he ʻohana ka wahine, koi ʻia e hana i nā ʻōlelo aʻoaʻo kūʻē e nānā i ka pilikia o ke keiki i ka loaʻa ʻana o ka maʻi maʻi. No laila, hiki ke ʻōlelo aʻoaʻo i nā mākua e pili ana i ka maʻi a pehea e kōkua ai i ke keiki i kahi ola maʻamau. Hoʻomaopopo pehea e hana ai i ka ʻōlelo aʻoaʻo kūpuna.