Kei te kite koe i ētahi panonitanga o te whanonga, te kōrero, te āhua rānei o tāu tamaiti e uaua ana ki te mārama? I ētahi wā kāore tātou e mōhio nui ki ētahi mate e pā ana ki ngā tamariki nohinohi, nō reira ka puta ake he whakaaro kotahi i muri i tētahi. I tēnei rā ka kōrero tātou mō tētahi āhuatanga uaua, engari he mea tino nui kia mōhio te katoa. Ko te ingoa o tēnei ko te mate Sanfilippo . Kaua e manukanuka, ka kōrerohia e tātou tēnei me te taipitopito, me te ngāwari hoki.

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He aha te Mate Sanfilippo?

He kupu ngāwari noa iho, he mate ira tuku iho te mate Sanfilippo. He rōpū mate tēnei. Ko te nuinga o te wā ka pā ki te pūnaha io matua o tāu tamaiti, arā, te roro me te taurakira. Ka puta he maha ngā tohu i roto i ngā āhuatanga hinengaro, whanonga, me te tinana o te tamaiti. Engari, ka kino haere ēnei tohu i roto i te wā, ā, ka taea e tēnei mate te whakapoto i te roanga o te oranga o ngā tamariki.

Ko tētahi atu ingoa mō tēnei ko te mucopolysaccharidosis momo III (MPS III) .

Whakaarohia, i roto i ō tātou pūtau he iti noa ngā "pokapū whakakore para." Ka kiia ēnei he lysosomes . Koinei ngā mea e wawahi ana, e tango ana i ngā matū kāore e hiahiatia, e "para" ana rānei, e kohikohi ana i roto i ngā pūtau. Ko te tamaiti e pangia ana e te mate Sanfilippo, kāore i te nui tētahi o ngā whākōkī e whā e hiahiatia ana hei wawahi i te warowaihā matatini e kiia nei ko te heparan sulfate ( e kiia ana hoki ko te glycosaminoglycan ). Nā te mea kāore tēnei whākōkī e mahi tika ana, ka kohikohi te matū e kiia nei ko te heparan sulfate i roto i ngā pūtau, ngā kiko, me ngā whekau o te tamaiti. Ka pā kino tēnei kohikohinga ki a rātou. Koinei te mea e kiia nei e tātou he mate rokiroki lysosomal .

He momo mate Sanfilippo anō kei reira?

Āe, e whā ngā momo matua o tēnei. Ko ia momo ka puta mai i te korenga o tētahi whākōkī rerekē.

Momo A: Te korenga o te whākōkī sulfamidase.
Momo B: Te korenga o te whākōkī alpha-N-acetylglucosaminidase.
Momo C: Te ngoikore o te whākōkī heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase.
Momo D: Te korenga o te whākōkī N-acetylglucosamine 6-sulfatase.

O ēnei, ko te momo A te momo tino noa puta noa i te ao , ko te momo D ia te momo iti rawa te noa.

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He pēhea te noa o tēnei āhuatanga?

He tino onge te mate Sanfilippo.E ai ki ngā kairangahau, kotahi i roto i te 50,000 ki te 250,000 tāngata e pāngia ana e tēnei. Nō reira, ka kite koe i te onge o tēnei āhuatanga.

He aha ngā tohu o te mate Sanfilippo?

Ka rerekē pea ngā tohu me te kaha o tēnei mate i ia tamaiti, i ia tamaiti, i runga anō hoki i te momo mate. Ko ētahi o ngā tohu tōmua ka kitea i roto i ngā pēpi hou me ngā tamariki nohinohi ko:

Ngā āhuatanga mata taratara .
He kamo mārama, he whānui.
Kāore te nui o ngā huruhuru o te tinana (hirsutism) e memeha haere i roto i te wā.
Te nui ake o te upoko i te mea noa (macrocephaly).
Ngā raruraru moe, ngā uauatanga moe.
Ngā raruraru manawa, hei tauira, te pupū o te taringa, o te ihu rānei, te uaua ki te manawa.
Te mamae nui o te puku me te tangi (he rite ki ngā wā korikori).
Te korere auau.

Kāore pea koe e kite wawe i ēnei tohu wawe. I te pakeke haere o tāu tamaiti, ka tīmata te puta mai o ētahi atu tohu e pā ana ki te mate Sanfilippo. Ko te tikanga ka puta ēnei tohu i waenga i te 1 me te 4 tau te pakeke .

Ngā āhuatanga e pā ana ki te pūnaha io me ana whanonga:

He whakaroa i te kōrero me ngā pūkenga reo (he tohu tōmua tonu tēnei).
Ka whakaroa te whanaketanga o te tamaiti me te kore he take motuhake (te whakaroa whanaketanga kore-motuhake).
Ka heke haere ngā pūkenga hinengaro i roto i te wā.
Whanoke pukuriri, whanoke kino rānei .
Te hihiko rawa.
Te whanonga koretake, te pahūtanga ohorere o te riri (te riri nui).
Kāore e wehi i ngā mea mōrearea.
Te ngau pinepine, te haehae, te ngote, te horomi rānei (te waha nui).
Te kore okiokinga.
Ngā raruraru moe - te wehi ki te moe, te parasomnias, me te apnea moe.
Ngā panonitanga ki te tauira hikoi, hei tauira, te hikoi me te māhunga o te waewae .
Te pakari o te tinana, te koretake o te manawa.
Ngā hopukanga.

Ngā tohu o te taringa, te ihu, me te korokoro:

Te ngaronga o te rongo.
Ngā mate taringa maha (otitis).
Te pupuhi tonu o te ihu.
Me tango wawe atu ngā adenoids me ngā tonsils (adenotonsillectomy) i mua atu i ngā tamariki noa.

Ētahi atu tohu:

Te mate korere roa, te mate kōroke rānei.
Te mate kōroke.
Te mamae o te puku.
Ngā koretake o te manawa o te ngakau (arrhythmia).
Te mate uaua o te ngākau (cardiomyopathy).
Te pakari o ngā hononga.
Te korokoro.

He aha te take o te mate Sanfilippo?

E ai ki tā mātou i kōrero ai i mua, ko te mate Sanfilippo he mate rokiroki Lysosomal (LSD).He mate ira tēnei nō te rōpū e kīia nei. Ka kohia e te hunga whai mate nei ngā matū paitini ki roto i ngā pūtau o ō rātou tinana. Ko te take o tēnei, kāore ētahi whākōkī i roto i ō rātou tinana e mahi tika, e ngaro ana rānei . Ina ngaro ēnei whākōkī, kāore e taea e te tinana te wawahi me te tango i ētahi matū. Ina kohia i roto i te tinana ka kino.

I roto i te mate Sanfilippo, kua ngaro tetahi o ngā whākōkī e whā e āwhina ana ki te wawahi i tētahi matū e kiia nei ko te heparan sulfate . Kātahi ka kohia te heparan sulfate ki roto i ngā pūtau ka pakaru i a rātou. Ko te nuinga o tēnei kohi ka pā ki ngā pūtau roro o te tamaiti .

Ko ēnei ngoikoretanga whākōkī e hua mai ana i ngā whakarerekētanga ira , inā koa ko ngā whakarerekētanga ira i roto i ngā ira pēnei i te ira SGSH .

Ka riro i te tamaiti ēnei huringa ira mai i ngā mātua e rua. Ka kiia tēnei he tauira tuku iho autosomal recessive . Ko te tikanga me kawe e ngā mātua e rua te ira kua whakarerekētia. Heoi, ko te kawe i tēnei ira kāore e whakaatu i ngā tohu.

Me pēhea te tautuhi tika i tēnei mate?

Nā te mea he tino onge te mate Sanfilippo, ā, he rite tonu ōna tohu ki ērā o ētahi atu mate noa , ka roa pea te wā e whakaroahia ai te tātaritanga. Tērā pea ka hē te tātaritanga a ngā tākuta i te mate hei whakaroa whanaketanga, hei Mate Aro-Kore/Hyperactivity Disorder (ADHD) , hei autism rānei.

Ka whakahaerehia e te tākuta o tāu tamaiti he whakamātautau tinana me te whakamātautau io. Ka pātai atu hoki rātou mō ngā tohumate me te hītori hauora o tāu tamaiti. Tērā pea ka tonoa e rātou he whakamātautau hei whakakore i ētahi atu mate.

Ko ngā whakamātautau hei whakaū i te mate o te mate Sanfilippo ko:

Whakamātautau mimi GAG: Ka tirohia he tauira mimi o te tamaiti mō te aroaro o tētahi matū e kiia nei ko te glycosaminoglycans (GAG) .
Tātaritanga whākōkī: Ka inehia te mahi a ngā whākōkī e tika ana i roto i te tauira toto.
Whakamātautau ira: Ka taea e tēnei whakamātautau te tirotiro i ngā huringa ira (ngā whakarerekētanga ira) e mōhiotia ana e pā ana ki te mate Sanfilippo.

Hei tāpiritanga, ka tūtohu pea te tākuta i ētahi atu whakamātautau hei tirotiro mēnā he kino kei ngā whekau, kei ngā kiko rānei o te tamaiti. Hei tauira:

Matawai MRI o te roro.
He whakamātautau kanohi.
He whakamātautau whakarongo.
Ngā whakamātautau ngākau - pērā i te echocardiogram me te electrocardiogram (EKG) .
He rangahau moe.
Ngā whakamātautau hihi-X.

Te tātaritanga i mua i te whānautanga

Mena kua pāngia tētahi o tō whānau e te mate Sanfilippo, ka tūtohu pea tō tākuta kia whakamātauria tō pēpi kāore anō kia whānau mō te mate i te wā e hapu ana. Ka taea tēnei mā roto i ngā whakamātautau pēnei i te amniocentesis , te chorionic villus sampling rānei.

He aha ngā maimoatanga mō te Sanfilippo Syndrome?

Engari, kāore anō kia kitea he rongoā, he rongoā whakarerekē mate rānei mō te mate Sanfilippo i tēnei wā . Ko te arotahi matua o te maimoatanga ko te whakahaere i ngā tohu me te tiaki i te mamae . Nā te mea he maha ngā āhuatanga o te hauora o te tamaiti e pāngia ana e te mate, me whai rōpū tākuta maha-mātauranga hei rongoā i te tamaiti. Kei roto pea i tēnei rōpū:

Ngā tākuta tamariki.
Ngā tākuta roro o ngā tamariki.
Ngā kaiwhakaora tinana.
Ngā kaiwhakaora mahi.
Ngā tohunga mate kōrero-reo.
Ngā tohunga taringa, ihu, me te korokoro (ngā tohunga taringa, ihu, me te korokoro).
Ngā tohunga hinengaro tamariki.
Ngā kaimahi hapori.
Ngā kaiwhakaako motuhake.

Ka tūtohu ēnei tohunga i ngā rongoā, ngā whakaora tinana, me ngā taputapu āwhina e hāngai ana ki ngā hiahia o te tamaiti. Ko ngā whāinga matua o te maimoatanga he pupuri i te korikori tinana o te tamaiti, te whakanui ake i ōna pūkenga, me te pupuri i te kounga teitei o te oranga.

Tērā pea ka whai wāhi atu tāu tamaiti ki tētahi whakamātautau haumanu . Pātai atu ki te tīma hauora o tāu tamaiti mō tēnei. Kei te rangahauhia e ngā kairangahau ngā maimoatanga motuhake mō te mate Sanfilippo i tēnei wā. Hei tauira:

Te rongoā whakakapinga whākōkī.
Te whakawhitinga pūtau take.
Te rongoā ira.

I ngā wāhanga whakamutunga o te mate, ko te kaupapa matua o te maimoatanga ko te pupuri i te kounga o te ora me te aukati i ngā raruraru.

He aha ngā mea ka tumanakohia e au mēnā kei te pāngia taku tamaiti e te mate Sanfilippo?

Mena kei te pāngia tāu tamaiti e te mate Sanfilippo, tera pea ka maha ngā wā tirotiro hauora me ngā whakamātautau. He uaua pea te mārama ki tēnei mate uaua i te wā kotahi. Engari kia maumahara, kei a koe te tīma hauora o tāu tamaiti i ia taahiraa o te ara. Nā te mea he rerekē te pānga o te mate Sanfilippo ki ia tamaiti, ka taea e te tīma hauora o tāu tamaiti te tohutohu pai ki a koe mō ngā āhuatanga o te heke mai mō tāu tamaiti me tō whānau.

I ngā wāhanga whakamutunga o te mate Sanfilippo, ka pāngia pea tō tamaiti e ēnei e whai ake nei:

Te hekenga o te hononga ki tō rātou taiao.
Te mate wareware .
Te ngaronga o ngā mahi nekeneke pēnei i te hikoi, te kōrero, me te kai.

Ka kino haere ēnei raruraru hauora i te roanga o te wā, ā, ka mutu, ka mate pea. Ko ngā mate manawa, inā koa ko te niumōnia , te tino take o te mate.

He aha te roanga o te oranga o te tangata e pāngia ana e te mate Sanfilippo?

I roto i tētahi rangahau o ngā tūroro 113 e pāngia ana e te mate Sanfilippo, ko te roanga o te oranga toharite ko:

Momo A: I waenganui i te 11 me te 19 tau te pakeke.
Momo B: I waenganui i te 12 me te 16 tau te pakeke.
Momo C: I waenganui i te 14 me te 32 tau te pakeke.

He tino onge te momo D, nō reira kāore i te rawaka ngā mōhiohio e pā ana ki a ia.

Engari, ko te mea nui, he rerekē ia tamaiti e pāngia ana e te mate Sanfilippo . Ko te tīma hauora o tāu tamaiti te tangata pai rawa atu hei hoatu whakaaro pai ki a koe mō te pānga o te mate ki te hauora o tāu tamaiti.

Ka taea te ārai i te mate Sanfilippo?

Nā te mea he mate ira te mate Sanfilippo, kāore he mea e taea e koe te mahi hei ārai i tēnei .

I mua i te whānautanga o tētahi tamaiti, ki te mea kei te āwangawanga koe mō te tūponotanga o te tuku i te mate Sanfilippo, i ētahi atu āhuatanga ira rānei ki tāu tamaiti, he mea pai kia kōrero koe ki tētahi tākuta me te tiki tohutohu ira .

Mena kei te pāngia taku tamaiti e te mate Sanfilippo, me pēhea taku tiaki i a ia?

Mena kei te pāngia tāu tamaiti e te mate Sanfilippo, he mea nui kia whakarite kia whiwhi ia i te tiaki hauora pai rawa atu . Mā te tautoko i tāu tamaiti, ka taea e koe te āwhina kia whiwhi ia i te kounga pai rawa atu o te oranga.

Ka taea hoki e koe me tō whānau te whakauru atu ki tētahi rōpū tautoko hei tūtaki māu ki ētahi atu kua pāngia e ngā wheako ōrite. He puna nui tēnei hei whakapakari i a koe.

Ko ngā āhuatanga e ngoikore haere ana te pūnaha io, pērā i te mate Sanfilippo, ka pā kino ki tō hauora hinengaro me te kounga o te oranga o tō whānau. He nui ake te mōrearea o ngā mātua me ngā kaitiaki o ngā tamariki e pāngia ana e te mate Sanfilippo ki te whakawhanake i ngā āhuatanga pērā i te Mate Ahotea Whai Muri i te Whawhai (PTSD) . Nō reira, me tiaki hoki e koe tō hauora hinengaro. Mēnā kei te pāngia koe e te pouri, te manukanuka, te ahotea roa rānei, kia kite koe i tētahi tohunga hinengaro, i tētahi kaiwhakatakoto whakaaro rānei.

Āhea te wā me kite taku tamaiti i te tākuta?

Me tirotiro tonu e te tīma hauora o tāu tamaiti ia 6 ki te 12 marama (kia maha ake rānei) kia kitea ai ngā panonitanga o ōna pūkenga hinengaro, ōna pūkenga nekeneke, me ōna whanonga. Mēnā ka kite koe i ētahi tohu hou, mēnā rānei kei te kino haere ō tohu, kōrero tonu atu ki te tīma hauora o tāu tamaiti.

Hei whakamutunga, ngā mea hei maumahara

He mea noa te pōuri me te ohorere ina rongo koe i te tātaritanga o te mate Sanfilippo. Engari kia mahara, ka whakaratohia e te tīma hauora o tāu tamaiti he mahere whakahaere whānui e tika ana mō tāu tamaiti. He mea nui kia whakarite kia whiwhi koe, tāu tamaiti, me tō whānau i te tautoko e hiahiatia ana e rātou, me te noho mataara mō te hauora o tāu tamaiti. Kei te rite te tīma hauora o tāu tamaiti ki te tautoko i a koe i ia taahiraa o te ara. Kaua e mataku, anga atu ki tēnei wero me te maia. Kaua e mangere ki te ako i ngā mōhiohio e hiahiatia ana e koe, pātai atu, me te tiki i te āwhina e hiahiatia ana e koe.

Te mate Sanfilippo, ngā mate ira, ngā mate tamariki, te pūnaha io, ngā whākōkī, te mucopolysaccharidosis