Loaʻa i kāu keiki liʻiliʻi kēia maʻi ʻē? - E aʻo kākou e pili ana i ka Lesch-Nyhan Syndrome

Ke hōʻeha nei kāu keiki liʻiliʻi iā ia iho? Ua ʻike anei ʻoe iā ia e nahu ana i kona mau lehelehe, e nahu ana i kona mau manamana lima, a i ʻole e kuʻi ana i kona poʻo i kekahi wahi? Ke hana ʻia kēlā, he mea maʻamau iā ʻoe, ma ke ʻano he makuahine a makua paha, ke makaʻu nui a hopohopo. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi koʻikoʻi, akā kakaʻikahi loa i kapa ʻia ʻo Lesch-Nyhan Syndrome. Ke manaʻolana nei au ma hope o ka heluhelu ʻana i kēia, e loaʻa iā ʻoe kahi ʻike maopopo e pili ana i kēia.

He aha ka Lesch-Nyhan Syndrome? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, ʻo ka Lesch-Nyhan Syndrome (LNS) kahi maʻi kakaikahi loa i loaʻa i ka wā hānau . Hoʻopilikia nui ia i ka lolo a me ke ʻano o ke keiki. E like me kā mākou i ʻōlelo ai ma mua, ʻo kekahi o nā hōʻailona nui a koʻikoʻi loa o kēia maʻi ʻo ia ka hōʻeha ponoʻī ʻole o ke keiki. ʻO ia hoʻi nā mea e like me ke nahu ʻana i ko lākou mau lehelehe, ke nahu ʻana i ko lākou mau manamana lima, a i ʻole ke kuʻi ʻana i ko lākou poʻo i nā mea e like me ka paia. E noʻonoʻo i ka nui o ka ʻeha o kahi keiki liʻiliʻi ke hana lākou i kēlā.

Hoʻonui kēia maʻi i ka nui o ka uric acid, kahi huahana ʻōpala kūlohelohe i loko o ko kākou kino. Manaʻo nā kānaka noiʻi e hoʻopilikia pū ana ʻo LNS i nā pae o ka dopamine ʻelele kemika, he mea nui ia no ka hana olakino o ka lolo.

Hiki i nā keiki me kēia maʻi, ʻo LNS, ke loaʻa i kahi ʻāʻī koʻikoʻi a ʻeha hoʻi i kapa ʻia ʻo gout . Loaʻa paha iā lākou ka dystonia a me ka retardation noʻonoʻo.

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Lesch-Nyhan. ʻAʻole maikaʻi ka wānana. Eia nō naʻe, me ka mālama kūpono, hiki ke kāohi ʻia nā hōʻailona o kāu keiki, hiki ke hoʻemi ʻia nā pilikia, a hiki ke hoʻomaikaʻi ʻia ke ʻano o ke ola i kekahi ʻano.

ʻO wai ka loaʻa iā Lesch-Nyhan Syndrome?

He maʻi hoʻoilina ka maʻi Lesch-Nyhan. Hoʻoili pinepine ʻia mai ka makuahine a i ke keiki kāne. He mea kākaʻikahi loa ia i nā kaikamahine.

Eia nō naʻe, i kekahi manawa, ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa i kēia maʻi genetic ma mua, hiki nō hoʻi kēia ʻano `LNS` ma muli o kahi loli koke `(mutation)` i loko o kahi gene kikoʻī `(HPRT1 gene)` ʻoiai e ulu ana ke keiki i loko o ka ʻōpū. Hiki i ka `hoʻāʻo genetic` ke ʻike inā ua hoʻoilina ʻia kēia mutation gene o ke kanaka a i ʻole ua ulu hou ʻia.

Aia kekahi mau kūlana ʻē aʻe e like me ka Lesch-Nyhan syndrome (LHS)?

ʻAe, aia kekahi mau kūlana ʻē aʻe e hōʻike ana i nā hōʻailona like me 'LNS'. No ka laʻana, ʻo ka 'autism spectrum disorder' a me ka 'cerebral palsy' he mau hōʻailona like ko lāua me 'LNS'.No laila, he mea nui loa ka loaʻa ʻana o kahi hōʻailona pololei i hiki i kāu keiki ke loaʻa i ka lāʻau kūpono.

Eia kekahi mau kūlana ʻē aʻe e like me `LNS`:

• ʻO Cornelia de Lange syndrome - He maʻi ulu kēia.
• ʻO ka dysautonomia ʻohana.
• ʻO ka maʻi Fragile X.
• Ka hemahema o ka Glucose 6-phosphate dehydrogenase (G6PD) - He ʻano genetic kēia e hoʻopilikia ai i nā hunaola koko ʻulaʻula.
• ʻO ka neuropathy sensory hoʻoilina.
• ʻO ka maʻi o Huntington.
• ʻO ka Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Ke alakaʻi nei hoʻi kēia i ka hana nui ʻana o ka uric acid.
• ʻO ka maʻi Rett.
• ʻO ka maʻi Tourette.

Aia kekahi mau ʻano like ʻole o ka maʻi Lesch-Nyhan (LHS)?

ʻO ke ʻano maʻamau o ka maʻi, i kapa ʻia ʻo Classic Lesch-Nyhan syndrome (LNS), he koʻikoʻi loa ia . Hoʻoulu ia i nā pilikia kino, noʻonoʻo, a me ke ʻano. Eia nō naʻe, aia kekahi mau ʻano ʻē aʻe, ʻoi aku ka palupalu o ka maʻi. He kakaikahi nā hōʻailona o nā keiki me kēia ʻano. ʻAʻole lākou e hōʻeha iā lākou iho a hoʻomohala i nā maʻi neʻe.

ʻO kēlā mau ʻano palupalu:

• ʻO ka hana neurologic e pili ana i ka HPRT1 (HND)
• ʻO ka hyperuricemia pili i ka HPRT1 (Kelley-Seegmiller syndrome)` (HPRT1-related hyperuricemia - Kelley-Seegmiller syndrome) - ʻO kēia ke ʻano palupalu loa.

He aha nā inoa ʻē aʻe no ka maʻi Lesch-Nyhan (LHS)?

Ua ʻike ʻia kēia maʻi ma kekahi mau inoa ʻē aʻe. ʻO ia hoʻi:

• ʻO ka maʻi ʻokiʻoki ponoʻī Choreoathetosis
• ʻO ka hemahema piha o ka hypoxanthine-guanine phosphoribosyltransferase
• ʻO ka gout ʻōpio
• ʻO ka maʻi hyperuricemia ʻōpio
• ʻO ka maʻi Kelley-Seegmiller
• ʻO ka maʻi Lesch Nyhan (LND)
• ʻO ka maʻi hyperuricemia mua
• ʻO ka hemahema holoʻokoʻa o ka HPRT
• ʻO ka hyperuricemia i hoʻopili ʻia me X

Pehea ka maʻamau o ka Lesch-Nyhan Syndrome (LHS)?

He maʻi laha ʻole ka maʻi Lesch-Nyhan. Hoʻopilikia ia ma kahi o hoʻokahi i loko o 380,000 mau kānaka . ʻOi aku ka maʻamau i nā keikikāne. Ua ʻike mua ʻia ka maʻi i ka makahiki 1964.

He aha ke kumu o ka Lesch-Nyhan Syndrome (LHS)?

ʻO ke kumu nui o kēiaHe loli, a i ʻole mutation, i loko o kahi gene kikoʻī i kapa ʻia ʻo ka `HPRT1 gene`. Hoʻopuka kēia gene `HPRT1` i kahi enzyme koʻikoʻi loa i kapa ʻia ʻo `HPRT`. ʻO ka enzyme kahi ʻano protein e hoʻolalelale i nā hopena kemika (metabolism) i loko o ko mākou kino a kōkua i ke kino e hana.

E noʻonoʻo i ka mea e hana ʻia ke hana pono ʻole kēia enzyme 'HPRT'. I ka maʻi Lesch-Nyhan, ʻaʻole hiki i ke kino ke hoʻohana pono i nā kemika i kapa ʻia ʻo 'purines' . Ke hoʻohana pono ʻole ʻia kēia mau purines, lilo lākou i 'uric acid'. He huahana ʻōpala kēia i loko o ko kākou koko.

ʻO ka maʻamau, ʻo ka hapa nui o kēia 'uric acid' e hele ana ma o nā puʻupaʻa a hoʻokuʻu ʻia i loko o ka mimi. Eia nō naʻe, ma ka maʻi Lesch-Nyhan, hōʻiliʻili ka 'uric acid' (uric acid) i loko o ke kino me ka nui (hyperuricemia) .

Hoʻopili ʻia kēia waikawa uric keu ma ke ʻano he mau pōhaku liʻiliʻi, a i ʻole nā ​​kristal urate, i loko o ka ʻili, nā lima, a me nā wāwae. Hiki i kēia mau kristal ke hōʻino i nā hono a hoʻoulu i kahi maʻi i kapa ʻia ʻo gout.

Eia kekahi, hiki i kēia mau pōhaku liʻiliʻi ke hana i loko o nā puʻupaʻa a i ʻole ka ʻōpū mimi, e ālai ana i ke kahe o ka mimi a e hōʻeha ai. I kekahi mau hihia koʻikoʻi, hiki i nā puʻupaʻa ʻelua ke oki i ka hana (renal failure).

He aha nā hōʻailona o ka Lesch-Nyhan Syndrome (LHS)?

Hoʻopilikia nā hōʻailona i nā keiki me ka maʻi Lesch-Nyhan i ko lākou hiki ke noʻonoʻo, neʻe ʻana, a me ke ʻano . ʻO nā nāwaliwali i ka kaohi ʻana i nā ʻiʻo a me nā lohi o ka ulu ʻana kekahi o nā hōʻailona mua o ke ʻano.

Loaʻa paha i kekahi mau pēpē nā kristal ʻalani i loko o kā lākou diapers inā nui loa ka uric acid i loko o ko lākou kino. Eia nō naʻe, ʻaʻole hōʻike ka hapa nui o nā pēpē me kēia maʻi i nā hōʻailona maopopo a hiki i ka piha ʻana o 4 mau mahina.

Nui nā hōʻailona e ʻike ʻia e nā mākua a me nā kauka. E nānā kākou iā lākou pākahi:

Ka hōʻino ʻana iā ʻoe iho a me nā poʻe ʻē aʻe

ʻO ka hōʻeha ponoʻī ʻana he hōʻailona ia o ka maʻi Lesch-Nyhan, kahi kūlana e kū mai ana ma hope o ka hoʻomaka ʻana o nā niho o ke keiki. ʻO kēia ʻano hana maʻamau:

• Ke kuʻi ʻana i kou poʻo a i ʻole kou mau lālā ma kekahi wahi.
• Ke nahu ʻana i nā lehelehe, nā manamana lima, a me nā papālina.
• ʻĀʻī i nā maka.

I kekahi manawa, hoʻāʻo nā keiki me kēia maʻi e hōʻeha i nā poʻe ʻē aʻe. Hiki iā lākou ke hōʻino waha, hopu, kuʻi, nahu, a kuha paha i nā poʻe ʻē aʻe . He mea kaumaha a kōkua ʻole paha ia no ka makuahine a i ʻole ka makuakāne ke ʻike i kēia, ʻeā?

Nā pilikia ʻiʻo a me ka neʻe ʻana

ʻO nā hōʻailona maʻamau ʻē aʻe he mau pilikia me ka kaohi ʻana i nā ʻiʻo. ʻO kēia mau mea:

• ʻO Ballismus ka neʻe ʻana o nā lima a i ʻole nā ​​​​wāwae ma ke ʻano like.
• Paʻakikī ke kolo, ka hele wāwae, a i ʻole ka ʻai ʻana me kou mau lima.
• Ka paʻakikī i ke ale ʻana (dysphagia).
• Hoʻonui i ka flexia.
• Ke kūlou ʻana o ke kuamoʻo ma muli o ka ʻūmiʻi ʻana o nā ʻiʻo `(opisthotonos)`.
• Nā neʻe ʻana me ka makemake ʻole (dystonia) a i ʻole nā ​​​​loli i nā ʻano helehelena.
• ʻO ka neʻe ʻana, ka wili ʻana, a me nā neʻe ʻana me ka makemake ʻole (choreoathetosis).
• Nā neʻe ʻūlū koke (chorea).
• Ka neʻe ʻana i ka ʻino ma muli o ka ʻoʻoleʻa a i ʻole ka rigidity o nā ʻiʻo (spasticity).
• Ka ʻōlelo ʻana me ka ʻole o ka pololei a me ka lohi (dysarthria).

Nā pilikia olakino

Hiki i nā keiki me ka maʻi Lesch-Nyhan ke loaʻa i kekahi mau pilikia olakino ma muli o ka hōʻiliʻili ʻana o ka `uric acid` i loko o ke kino. ʻO kēia mau mea:

• Nā pōhaku ʻōpū.
• Ka hāʻule ʻana o nā puʻupaʻa.
• Nā pōhaku puʻupaʻa.
• ʻO ka ʻōpū.
• ʻO ka anemia Megaloblastic i hoʻokumu ʻia e ka nele o ka huaora B12.
• Ka luaʻi pinepine ʻana.

Nā pilikia aʻo

Eia kekahi, hiki i nā keiki ke loaʻa nā pilikia e like me:

• Nā kīnā aʻo.
• Nā pilikia noʻonoʻo e like me ka nalowale o ka hoʻomanaʻo a i ʻole ka emi ʻana o ka nānā ʻana.
• Ka paʻakikī o ka hoʻolālā ʻana i nā mea paʻakikī.

Pehea e ʻike ʻia ai ka maʻi Lesch-Nyhan (LHS)?

E ʻike paha ʻoe i nā hōʻailona i kāu keiki. A i ʻole, e ʻike paha ke kauka i kahi ʻano ʻē i ka wā o ka hoʻokolokolo maʻamau. Hoʻoponopono nā mea mālama ola i ka maʻi Lesch-Nyhan me kahi hoʻokolokolo kino .

E nīnau pū lākou e pili ana i nā hōʻailona o kāu keiki a me ka mōʻaukala olakino ʻohana. E nānā pū lākou i nā hōʻailona e like me:

• Nā lohi o ka hoʻomohala ʻana.
• E hoʻoholo ʻia kahi hoʻāʻo koko a mimi paha inā kiʻekiʻe ka pae o kāu uric acid.
• Nā hana hōʻino iā ʻoe iho.

He aha nā hoʻokolohua ʻē aʻe e kōkua ai i ka hōʻoia ʻana?

Hiki i kāu kauka ke ʻōlelo aku i nā hoʻokolohua koko a me nā hoʻokolohua genetic e hōʻoia i ka maʻi a kāpae i nā kūlana ʻē aʻe. ʻO ka hoʻāʻo genetic e pili ana i ka lawe ʻana i kahi hāpana koko liʻiliʻi. Ma hope o ka hoʻāʻo genetic, e kamaʻilio kekahi kākāʻōlelo genetic me ʻoe e pili ana i nā hopena.

Inā loaʻa i kekahi o kou ʻohana ka maʻi Lesch-Nyhan, a ua hāpai ʻoe, e kamaʻilio me kāu kauka e pili ana i ia mea. Hiki i kāu kauka ke paipai i ka hoʻāʻo prenatal, ʻoiai inā ʻike ʻoe he keikikāne kāu pēpē. Hiki i kēia hoʻāʻo prenatal ke komo pū me:

• ʻAmniocentesis.
• Ka hāpana laʻana o ka villus Chorionic.

Aia kekahi lāʻau lapaʻau no ka Lesch-Nyhan Syndrome (LHS)?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Lesch-Nyhan, a ua kaupalena ʻia nā koho lapaʻau. Eia nō naʻe, hiki i nā mea lawelawe olakino ke kōkua iā ʻoe a me kāu keiki e hoʻokele i nā hōʻailona a hoʻokō i kahi ola maikaʻi aʻe.

ʻO wai ka poʻe e noho ma ka hui lapaʻau Lesch-Nyhan Syndrome (LHS) o kaʻu keiki?

Inā loaʻa i kāu keiki ka maʻi Lesch-Nyhan, e uhi pinepine kahi hui o nā loea like ʻole a me nā limahana olakino i nā hōʻailona āpau. Hiki i kēia hui ke komo pū me:

• He loea i ka ʻike ʻana i nā ʻano o ka lolo.
• He loea puʻupaʻa (nephrologist).
• He loea lolo.
• He mea hoʻōla hana.
• He kauka keiki.
• He mea hoʻōla kino.
• He limahana hana kaiaulu.
• He kauka ʻōlelo a me ke kauka lapaʻau.
• He kauka loea i ka ʻōnaehana mimi (urologist).

Pehea e mālama ʻia ai ka Lesch-Nyhan Syndrome (LHS)?

ʻO ke ʻano o ka mālama ʻana no ka maʻi Lesch-Nyhan e pili ana i nā hōʻailona o kāu keiki a me ko lākou koʻikoʻi.

Pono paha nā pēpē hānau hou a me nā keiki ʻōpio i ka nānā hou aku a me ke kākoʻo me ka hānai ʻana .

Hiki i kāu mea mālama ola ke ʻōlelo i nā mea e like me:

• Nā lāʻau lapaʻau e kāohi i nā pae uric acid kiʻekiʻe a i ʻole e hōʻoluʻolu i nā pilikia pili i ka nohona.
• Kōkua me ka hānai ʻana a i ʻole ke ale ʻana.
• Nā mea kōkua, e like me ka noho huila, e maʻalahi ai ka neʻe ʻana.
• Hoʻōla kino a me ka hoʻōla hana.
• Nā mea palekana e like me ka splint a i ʻole ka pale waha e pale aku i nā neʻe makemake ʻole ʻia e like me ke nahu ʻana o ka manamana lima.
• Nā kaʻina hana e like me ka shockwave lithotripsy a i ʻole ka laser lithotripsy e wāwahi i nā pōhaku puʻupaʻa a i ʻole ka ʻōpū mimi.

Hiki iaʻu ke hōʻemi i ka pilikia o ka loaʻa ʻana o ka Lesch-Nyhan Syndrome (LHS) i kaʻu keiki?

ʻO kaʻoiaʻiʻo, ʻaʻohe ala e pale aku ai i ka maʻi Lesch-Nyhan. Hoʻokumu ʻia ia e nā loli genetic (mutations) e hana ʻia ana i ka wā e ulu ana ka pēpē i loko o ka ʻōpū. ʻAʻohe mea āu e hana ai e hiki ke hoʻoulu i kēia maʻi. E hoʻomanaʻo i kēlā. I kekahi mau hihia, hiki ke hana ʻia nā hoʻāʻo prenatal e ʻike i ka mutation genetic.

He aha ka manaʻo no kahi keiki me ka maʻi Lesch-Nyhan (LHS)?

ʻO ka nānā ʻana no nā keiki me ka maʻi Lesch-Nyhan he maikaʻi ʻole ia . ʻAʻole hiki iā lākou ke hele a pono i kahi noho huila. He pōkole ke ola o ka poʻe he nui. Ma muli o nā pilikia o ka maʻi, he mea kakaikahi ka poʻe e ola ma mua o 20 mau makahiki. Eia nō naʻe, hiki i kahi hui lapaʻau ke kōkua iā ʻoe a me kāu keiki e hoʻokele i nā hōʻailona a kōkua i kāu keiki e noho ʻoluʻolu a hana e like me ka hiki.

Āhea wau e ʻimi ai i ke kōkua lapaʻau no kaʻu keiki?

He mea nui e ʻike mua i ka maʻi Lesch-Nyhan . Hiki i nā mea mālama ola ke hāʻawi iā ʻoe a me kāu keiki i ke kākoʻo mau a me ka hōʻoluʻolu ʻana i nā hōʻailona. E hana pū kāu kauka me ʻoe e hoʻoponopono i kahi hoʻolālā lapaʻau e kūpono i nā pono e loli nei o kāu keiki.Hoʻokumu i kahi hoʻolālā mālama pilikino.

Nui nā mākua e manaʻo nei i ka haʻalulu nui a me ke kōkua ʻole ma hope o ka ʻike ʻia ʻana me ka maʻi Lesch-Nyhan. ʻOiaʻiʻo, he maʻi genetic laha ʻole kēia ʻaʻohe lāʻau lapaʻau. Eia nō naʻe, hiki i ka ʻike mua ʻana a me ka mālama ʻana ke hoʻomaikaʻi nui i ke ʻano o ke ola o kahi keiki. E kamaʻilio me kāu kauka e pili ana i nā lāʻau lapaʻau kūpono e hiki ke hoʻololi i ka ulu ʻana o kāu keiki.

ʻO ka mea hope loa, leka lawe i ka home

ʻAe, mai nā mea a mākou i kamaʻilio ai, ke lana nei koʻu manaʻo ua loaʻa iā ʻoe kekahi ʻike e pili ana i ka Lesch-Nyhan Syndrome. He kūlana kakaikahi loa kēia, a he paʻakikī loa hoʻi no kahi keiki a me kahi ʻohana.

• He maʻi hoʻoilina kēia: hoʻoili pinepine ʻia mai ka makuahine a i ke keiki kāne, a i ʻole hiki ke hana ʻia e kahi hoʻololi hoʻoilina hou.
• ʻO ka hōʻailona nui, ʻo ia ka hōʻeha ʻana iā ʻoe iho: hiki nō hoʻi ke kumu o nā pilikia ʻiʻo, nā maʻi e like me ka gout, a me nā pilikia aʻo.
• ʻAʻohe lāʻau lapaʻau, akā hiki ke kāohi ʻia nā hōʻailona: me nā ʻano lāʻau like ʻole a me ke kākoʻo o kahi hui o nā kauka loea, hiki iā mākou ke hoʻāʻo e hoʻolilo i ke ola o ke keiki i mea ʻoluʻolu e like me ka hiki.
• He mea nui loa ka ʻike mua ʻana: Inā ʻike ʻoe i nā hōʻailona, ​​​​e ʻimi koke i ke kōkua lapaʻau.
• ʻAʻole ʻoe hoʻokahi: Hiki ke paʻakikī ke noho ikaika i ka noʻonoʻo i kahi kūlana e like me kēia. Eia nō naʻe, e ʻimi i ke kākoʻo mai nā kauka, nā kākā'ōlelo, a me nā mea aloha.

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. Inā loaʻa i kāu keiki kekahi o kēia mau hōʻailona, ​​e ʻoluʻolu e ʻike i ke kauka kūpono i ka hikiwawe loa.

ʻO ka maʻi Lesch-Nyhan, LNS, ka gene HPRT1, ka waikawa uric, ka gout, ka hōʻeha ʻana iā ʻoe iho, ka maʻi genetic, pediatrics, nā maʻi genetic, ka waikawa uric