Loaʻa i kāu keiki liʻiliʻi kēia mau hōʻailona? E aʻo kākou e pili ana i ka Sanfilippo Syndrome

Ke ʻike nei ʻoe i kekahi mau loli i ke ʻano, ka ʻōlelo, a i ʻole ke ʻano o kāu keiki liʻiliʻi āu e ʻike ai he paʻakikī ke hoʻomaopopo? I kekahi manawa, ʻaʻole mākou i ʻike nui e pili ana i kekahi mau maʻi e hoʻopilikia ana i nā keiki liʻiliʻi, no laila hoʻomaka mākou e noʻonoʻo i kekahi mea ma hope o kekahi. I kēia lā, e kamaʻilio mākou e pili ana i kahi kūlana i paʻakikī iki, akā hoʻokahi e pono e ʻike nā mea a pau. Ua kapa ʻia kēia ʻo Sanfilippo syndrome . Mai hopohopo, e kamaʻilio mākou e pili ana i ia mea me nā kikoʻī a me ka maʻalahi.

He aha ka Sanfilippo Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Sanfilippo kahi maʻi genetic i hoʻoilina ʻia . He hui maoli ia o nā maʻi. Hoʻopilikia nui ia i ka ʻōnaehana nerve waena o kāu keiki, ʻo ia hoʻi ka lolo a me ke kaula spinal. Hiki i kēia ke hana i nā ʻano hōʻailona like ʻole i nā wahi noʻonoʻo, ʻano, a me ke kino o ke keiki. ʻO ka mea pōʻino, ʻoi aku ka ʻino o kēia mau hōʻailona i ka hala ʻana o ka manawa, a hiki i kēia kūlana ke hoʻopōkole i ke ola o nā keiki.

ʻO kekahi inoa no kēia ʻo mucopolysaccharidosis type III (MPS III) .

E noʻonoʻo e pili ana i ia mea, i loko o kā mākou mau cell he mau "kikowaena hoʻolei ʻōpala" liʻiliʻi. Ua kapa ʻia kēia mau mea he lysosomes . ʻO kēia nā mea e wāwahi a wehe i nā mea makemake ʻole ʻia, a i ʻole "ʻōpala," e hōʻiliʻili ana i loko o nā cell. ʻO ke keiki me ka maʻi Sanfilippo ua nele i kekahi o nā enzymes ʻehā e pono ai e wāwahi i kahi carbohydrate paʻakikī i kapa ʻia ʻo heparan sulfate ( i kapa ʻia hoʻi ʻo glycosaminoglycan ). No ka mea, ʻaʻole hana pono kēia enzyme, hōʻiliʻili ka mea i kapa ʻia ʻo heparan sulfate i loko o nā cell, nā ʻiʻo, a me nā ʻōpū o ke keiki. Hoʻopilikia kēia hōʻiliʻili iā lākou. ʻO kēia ka mea a mākou e kapa nei he maʻi mālama lysosomal .

Aia kekahi mau ʻano o ka Sanfilippo Syndrome?

ʻAe, ʻehā ʻano nui o kēia. Hoʻokumu ʻia kēlā me kēia ʻano e ka nele o kahi enzyme ʻokoʻa.

• ʻAno A: Ka nele o ka enzyme sulfamidase.
• ʻAno B: Ka nele o ka enzyme alpha-N-acetylglucosaminidase.
• ʻAno C: Ka nele o ka enzyme heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase.
• ʻAno D: Ka nele o ka enzyme N-acetylglucosamine 6-sulfatase.

ʻO kēia mau mea, ʻo ke ʻano A ka ʻano maʻamau loa ma ka honua holoʻokoʻa , ʻoiai ʻo ke ʻano D ka mea i liʻiliʻi loa.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka maʻi Sanfilippo.Wahi a nā kānaka noiʻi, hoʻopilikia kēia i hoʻokahi i loko o 50,000 a 250,000 mau kānaka. No laila hiki iā ʻoe ke ʻike i ka laha ʻole o kēia.

He aha nā hōʻailona o ka Sanfilippo Syndrome?

Hiki ke ʻokoʻa nā hōʻailona a me ke koʻikoʻi o kēia ʻano mai kekahi keiki a i kekahi keiki, a ma muli hoʻi o ke ʻano o ka maʻi. ʻO kekahi o nā hōʻailona mua e ʻike ʻia i nā pēpē hānau hou a me nā kamaliʻi ʻōpio:

• Nā hiʻohiʻona helehelena ʻālohilohi .
• Nā maka maka moakāka a ākea.
• ʻAʻole e emi iho ka loaʻa ʻana o ka lauoho kino ma mua o ka maʻamau (hirsutism) i ka hala ʻana o ka manawa.
• ʻOi aku ka nui ma mua o ka nui o ke poʻo maʻamau (macrocephaly).
• Nā maʻi hiamoe, ka paʻakikī o ka hiamoe ʻana.
• Nā pilikia hanu, no ka laʻana, ka paʻa ʻana o ka pepeiao a me/a ihu paha, ka paʻakikī o ka hanu ʻana.
• ʻEha nui o ka ʻōpū a me ka uē ʻana (nā ʻano like me ke kolika).
• Ka maʻi pākī pinepine.

ʻAʻole paha ʻoe e ʻike koke i kēia mau hōʻailona mua. I ka wā e ulu aʻe ai kāu keiki, e hoʻomaka ana nā hōʻailona ʻē aʻe e pili ana i ka maʻi Sanfilippo. ʻIke pinepine ʻia kēia mau hōʻailona ma waena o nā makahiki 1 a me 4 .

Nā ʻano e pili ana i ka ʻōnaehana nerve a me ke ʻano:

• Ka lohi o ka ʻōlelo a me nā mākau ʻōlelo (pinepine he hōʻailona mua).
• Hoʻopaneʻe ʻia ka ulu ʻana o ke keiki me ke kumu ʻole (non-specific developmental delay).
• E emi ana nā mākau noʻonoʻo i ka hala ʻana o ka manawa.
• Hana hoʻouka kaua a luku paha .
• Hana nui.
• Hana kūpono ʻole, puka koke ʻana o ka huhū (nā tantrums huhū).
• ʻAʻole makaʻu i nā mea weliweli.
• Ka nahu pinepine ʻana, ka haehae ʻana, ka omo ʻana, a i ʻole ke ale ʻana (hyperorality).
• Hoʻomaha ʻole.
• Nā pilikia hiamoe - ka makaʻu i ka hiamoe ʻana, nā parasomnias, a me ka apnea hiamoe.
• Nā loli i ke ʻano hele wāwae, no ka laʻana, ka hele wāwae .
• ʻOʻoleʻa o ke kino, spasticity.
• Nā ʻōʻili.

Nā hōʻailona o ka pepeiao, ka ihu, a me ka puʻu:

• Ka nalowale o ka lohe.
• Nā maʻi pepeiao pinepine (otitis).
• Ka paʻa mau ʻana o ka ihu.
• Pono e wehe ʻia nā adenoids a me nā tonsils (adenotonsillectomy) ma mua o nā keiki maʻamau.

Nā hōʻailona ʻē aʻe:

• Ka maʻi pākīkī lōʻihi a i ʻole ka paʻa ʻana o ka ʻōpū.
• Ka paʻa ʻana o ka ʻōpū.
• ʻO ka ʻeha o ka ʻōpū.
• Nā ʻano hewa o ka manawa o ka puʻuwai (arrhythmia).
• Ka maʻi ʻiʻo puʻuwai (cardiomyopathy).
• ʻOʻoleʻa o nā hono.
• ʻO ke skoliosis.

He aha ke kumu o ka Sanfilippo Syndrome?

E like me kā mākou i ʻōlelo ai ma mua, ʻo ka maʻi Sanfilippo kahi maʻi mālama Lysosomal (LSD).He maʻi hoʻoilina ia e pili ana i ka hui i kapa ʻia. Hōʻiliʻili ka poʻe me kēia maʻi i nā mea ʻawahia i loko o ko lākou mau hunaola kino. ʻO ke kumu o kēia, ʻaʻole hana pono kekahi mau enzymes i loko o ko lākou kino a nalowale paha . Ke nalowale kēia mau enzymes, ʻaʻole hiki i ko mākou kino ke wāwahi a wehe i kekahi mau mea. ʻO ia ka wā e hōʻiliʻili ai lākou i loko o ke kino e lilo ai lākou i mea ʻino.

I loko o ka maʻi Sanfilippo, ua nalowale kekahi o nā enzyme ʻehā e kōkua ana i ka wāwahi ʻana i kahi mea i kapa ʻia ʻo heparan sulfate . A laila hōʻiliʻili ʻo Heparan sulfate i loko o nā cell a hōʻino iā lākou. Hoʻopilikia nui kēia hōʻiliʻili ʻana i nā cell lolo o ke keiki .

Hoʻokumu ʻia kēia mau hemahema enzyme e nā hoʻololi genetic , ʻoiai nā hoʻololi i loko o nā genes e like me ka gene SGSH .

Hoʻoilina ʻia kēia mau loli genetic e ke keiki mai nā mākua ʻelua. Ua kapa ʻia kēia he ʻano hoʻoilina autosomal recessive . ʻO ke ʻano kēia he mau mea lawe o ka gene i hoʻololi ʻia nā mākua ʻelua. Eia nō naʻe, ʻaʻole hōʻike pinepine ka mea lawe o kēia gene i nā hōʻailona.

Pehea ʻoe e ʻike pololei ai i kēia maʻi?

Ma muli o ka laha ʻole o ka maʻi Sanfilippo a ua like kona mau hōʻailona me nā maʻi maʻamau ʻē aʻe , hiki ke hoʻopaneʻe pinepine ʻia ka ʻike ʻana. Hiki i nā kauka ke kuhi hewa i ke kūlana ma ke ʻano he lohi o ka ulu ʻana, ka Attention-Deficit/Hyperactivity Disorder (ADHD) , a i ʻole autism .

E hana ke kauka o kāu keiki i kahi hoʻokolohua kino a me kahi hoʻokolohua neurological. E nīnau pū lākou e pili ana i nā hōʻailona o kāu keiki a me ka mōʻaukala olakino. Hiki iā lākou ke kauoha i nā hoʻokolohua e kāpae i nā kūlana ʻē aʻe.

ʻO nā hoʻokolohua e kōkua i ka hōʻoia ʻana i ka hōʻoia o ka maʻi Sanfilippo:

• Hoʻāʻo mimi GAG: Nānā ʻia kahi hāpana mimi mai ke keiki no ke alo o kahi mea i kapa ʻia ʻo glycosaminoglycans (GAG) .
• Ka nānā ʻana i nā enzyme: Ana ʻia ka hana o nā enzymes pili i loko o kahi hāpana koko.
• Ka hoʻāʻo ʻana i ka genetic: Hiki i kēia hoʻāʻo ke nānā i nā loli genetic (mutations) i ʻike ʻia e pili ana me ka maʻi Sanfilippo.

Eia kekahi, hiki i ke kauka ke paipai i nā hoʻokolohua ʻē aʻe e ʻike ai inā he hōʻino i nā ʻōpū a i ʻole nā ​​​​ʻiʻo o ke keiki. Eia kekahi laʻana:

• ʻO ke kiʻi MRI o ka lolo.
• He hoʻokolokolo maka.
• He hoʻāʻo hoʻolohe.
• Nā hoʻāʻo puʻuwai - e like me ka echocardiogram a me ka electrocardiogram (EKG) .
• He haʻawina hiamoe.
• Nā hoʻokolohua X-ray.

Ka hōʻoia ʻana i ka wā hānau mua

Inā ua loaʻa i kekahi o kou ʻohana ka maʻi Sanfilippo, hiki i kāu kauka ke ʻōlelo e hoʻāʻo i kāu pēpē i hānau ʻole ʻia no ke kūlana i ka wā hāpai. Hiki ke hana ʻia kēia ma o nā hoʻokolohua e like me ka amniocentesis a i ʻole ka chorionic villus sampling .

He aha nā lāʻau lapaʻau no ka Sanfilippo Syndrome?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau a lāʻau hoʻololi maʻi paha no ka maʻi Sanfilippo i kēia manawa . ʻO ke kumu nui o ka mālama ʻana, ʻo ia ka hoʻokele ʻana i nā hōʻailona a me ka mālama palliative . No ka mea, pili ke ʻano i nā ʻano he nui o ke olakino o ke keiki, pono kahi hui kauka multidisciplinary e mālama i ke keiki. Hiki i kēia hui ke komo pū me:

• Nā kauka keiki.
• Nā kauka neurologist o nā keiki.
• Nā mea hoʻōla kino.
• Nā mea hoʻōla hana.
• Nā kauka ʻōlelo a me nā loea ʻōlelo.
• Nā loea otolaryngology (nā loea pepeiao, ihu, a me ka puʻu).
• Nā loea noʻonoʻo keiki.
• Nā limahana hana kaiaulu.
• Nā mea hoʻonaʻauao kūikawā.

Paipai kēia mau loea i nā lāʻau lapaʻau, nā hoʻōla, a me nā mea kōkua i hana kūikawā ʻia no nā pono o ke keiki. ʻO nā pahuhopu nui o ka mālama ʻana, ʻo ia ka mālama ʻana i ka hana kino o ke keiki, ka hoʻonui ʻana i ko lākou hiki, a me ka mālama ʻana i ke ʻano kiʻekiʻe loa o ke ola.

Loaʻa paha i kāu keiki ka manawa kūpono e komo i kahi hoʻokolohua lapaʻau . E nīnau i ka hui lapaʻau o kāu keiki e pili ana i kēia. Ke aʻo nei nā kānaka noiʻi i nā lāʻau lapaʻau kūikawā no ka maʻi Sanfilippo. Eia kekahi laʻana:

• Lapaʻau hoʻololi enzyme.
• Hoʻoili ʻana i nā pūnaewele kumu.
• Ka lāʻau lapaʻau gene.

I nā pae hope o ka maʻi, ʻo ka mea nui o ka mālama ʻana, ʻo ia ka mālama ʻana i ke ʻano o ke ola a me ka pale ʻana i nā pilikia.

He aha kaʻu e manaʻo ai inā loaʻa ka Sanfilippo Syndrome i kaʻu keiki?

Inā loaʻa i kāu keiki ka maʻi Sanfilippo, e loaʻa pinepine paha iā ʻoe nā manawa a me nā hoʻokolohua lapaʻau. Hiki ke paʻakikī ke hoʻomaopopo i kēia kūlana paʻakikī i ka manawa hoʻokahi. Akā e hoʻomanaʻo, aia pū ka hui lapaʻau o kāu keiki me ʻoe i kēlā me kēia ʻanuʻu o ke ala. No ka mea, ʻokoʻa ka hopena o ka maʻi Sanfilippo i kēlā me kēia keiki, hiki i ka hui lapaʻau o kāu keiki ke aʻo maikaʻi iā ʻoe i ka mea e hiki mai ana no kāu keiki a me kou ʻohana.

I nā pae hope o ka maʻi Sanfilippo, hiki i kāu keiki ke ʻike pinepine i kēia mau mea:

• Ua emi ka pilina me ko lākou wahi a puni.
• Ka maʻi ʻōpū .
• Ka nalowale ʻana o nā hana neʻe e like me ka hele wāwae, ke kamaʻilio ʻana, a me ka ʻai ʻana.

ʻOi aku ka ʻino o kēia mau pilikia olakino i ka hala ʻana o ka manawa a hiki ke alakaʻi i ka make. ʻO nā maʻi ʻōpū hanu, ʻoiai ka maʻi pneumonia , ke kumu maʻamau o ka make.

He aha ke kūlana o ke ola o kekahi kanaka me ka Sanfilippo Syndrome?

Ma kahi noiʻi o 113 mau maʻi me ka maʻi Sanfilippo, ʻo ka awelika o ke ola:

• ʻAno A: Ma waena o 11 a me 19 mau makahiki.
• ʻAno B: Ma waena o 12 a me 16 mau makahiki.
• ʻAno C: Ma waena o 14 a me 32 mau makahiki.

He mea kākaʻikahi loa ke ʻano D, no laila ʻaʻole lawa ka ʻike e pili ana i ia.

Akā, ʻo ka mea nui loa, he ʻokoʻa kēlā me kēia keiki me ka maʻi Sanfilippo . ʻO ka hui lapaʻau o kāu keiki ke kanaka maikaʻi loa e hāʻawi iā ʻoe i kahi manaʻo maikaʻi pehea e pili ai ke ʻano i ke olakino o kāu keiki.

Hiki ke pale ʻia ka Sanfilippo Syndrome?

No ka mea, he maʻi hoʻoilina ka Sanfilippo syndrome, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku ai .

Ma mua o ka loaʻa ʻana o kahi keiki, inā ʻoe e hopohopo nei e pili ana i ka pilikia o ka hoʻoili ʻana i ka maʻi Sanfilippo a i ʻole nā ​​​​maʻi genetic ʻē aʻe i kāu keiki, he mea maikaʻi ke kamaʻilio me ke kauka a loaʻa ka ʻōlelo aʻoaʻo genetic .

Inā loaʻa ka Sanfilippo Syndrome i kaʻu keiki, pehea lā wau e mālama ai iā ia?

Inā loaʻa i kāu keiki ka maʻi Sanfilippo, he mea nui loa ia e hōʻoia i loaʻa iā lākou ka mālama olakino maikaʻi loa . Ma ke kākoʻo ʻana i kāu keiki, hiki iā ʻoe ke kōkua i ka hōʻoia ʻana e loaʻa iā lākou ke ʻano ola maikaʻi loa.

Hiki iā ʻoe a me kou ʻohana ke komo i kahi hui kākoʻo kahi e hiki ai iā ʻoe ke hālāwai me nā poʻe ʻē aʻe i loaʻa nā ʻike like. Hiki i kēia ke lilo i kumu ikaika nui.

ʻO nā kūlana e hoʻonāwaliwali mālie ai i ka ʻōnaehana nerve, e like me ka Sanfilippo syndrome, hiki ke loaʻa kahi hopena maikaʻi ʻole i kou olakino noʻonoʻo a me kou ʻohana a me ke ʻano o ke ola. ʻO nā mākua a me nā mea mālama o nā keiki me ka Sanfilippo syndrome e piʻi aʻe ka pilikia o ka loaʻa ʻana o nā kūlana e like me ka Post-Traumatic Stress Disorder (PTSD) . No laila, pono ʻoe e mālama i kou olakino noʻonoʻo. Inā ʻoe e ʻike nei i ke kaumaha, ka hopohopo, a i ʻole ke kaumaha lōʻihi, e ʻike pono i kahi kauka psychiatrist a i ʻole kākāʻōlelo.

Āhea e pono ai i kaʻu keiki ke ʻike i ke kauka?

Pono ʻoe e nānā pinepine i ka hui lapaʻau o kāu keiki iā lākou i kēlā me kēia 6 a 12 mau mahina (a ʻoi aku paha pinepine) e ʻike i nā loli i ko lākou hiki ke noʻonoʻo, nā mākau neʻe, a me ke ʻano. Inā ʻike ʻoe i kekahi mau hōʻailona hou, a inā paha e ʻoi aku ka ʻino o kāu mau hōʻailona, ​​e kamaʻilio koke me ka hui lapaʻau o kāu keiki.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

He mea maʻamau ka manaʻo kaumaha a me ka haʻalulu ke lohe ʻoe i kahi hōʻailona o ka maʻi Sanfilippo. Akā e hoʻomanaʻo, e hāʻawi ka hui lapaʻau o kāu keiki i kahi hoʻolālā hoʻokele piha e pili ana i kāu keiki. He mea nui e hōʻoia i loaʻa iā ʻoe, kāu keiki, a me kou ʻohana ke kākoʻo e pono ai lākou, a e makaʻala e pili ana i ke olakino o kāu keiki. Ua mākaukau ka hui lapaʻau o kāu keiki e kākoʻo iā ʻoe i kēlā me kēia ʻanuʻu o ke ala. Mai hopohopo, e kū i kēia pilikia me ka wiwo ʻole. Mai kānalua e aʻo i ka ʻike āu e pono ai, e nīnau i nā nīnau, a e loaʻa ke kōkua āu e pono ai.

ʻO ka maʻi Sanfilippo, nā maʻi genetic, nā maʻi pediatric, ka ʻōnaehana nerve, nā enzymes, mucopolysaccharidosis