Loaʻa i kāu keiki liʻiliʻi kēia maʻi laha ʻole? (Nonketotic Hyperglycinemia - NKH) E kamaʻilio kākou e pili ana i kēia

Ua hiamoe mau anei kāu pēpē hānau hou, ʻaʻole makemake i ka hānai waiū? A i ʻole he pilikia kona hanu ʻana? He mea maʻamau iā ʻoe ma ke ʻano he makua ke makaʻu nui i ka ʻike ʻana i kēia mau mea. I kekahi manawa, aia kekahi ʻano koʻikoʻi, a kakaʻikahi hoʻi, ma hope o kēia mau hōʻailona. ʻO kekahi o ia ʻano ʻo ia ka (Nonketotic Hyperglycinemia) a i ʻole (NKH). E kamaʻilio kākou e pili ana i kēia me nā kikoʻī a me ka maʻalahi i kēia lā.

Maopopo iā ʻoe ke ʻano o ka (NKH)?

I ka ʻōlelo maʻalahi, ʻo ka "Nonketotic Hyperglycinemia" a i ʻole "NKH" he maʻi genetic kakaikahi loa . ʻO ka mea e hana ʻia ana, ʻaʻole hiki i ke kino o kā mākou pēpē ke kaohi pono a wāwahi paha i kahi molekala i kapa ʻia ʻo "glycine".

I kēia manawa, ke nīnau nei paha ʻoe i ke ʻano o ka (glycine). ʻO (Glycine) he waikawa amino (amino acid). E like me ka mea e pono ai nā piliki e kūkulu i hale, he mea nui kēia mau waikawa amino no ke kūkulu ʻana i nā protein i loko o ko kākou kino. No laila, ke hiki ʻole i ke kino o ka pēpē ke hoʻomalu pono i kēia (glycine), hoʻomaka ia e hōʻiliʻili ma nā ʻāpana like ʻole o ke kino, ʻoi aku hoʻi i ka lolo . Ua kapa ʻia kēia ʻo (hyperglycinemia) ke piʻi nui ka pae o (glycine) me ke kumu ʻole. Hiki i kēia ke hana i nā pilikia neurological koʻikoʻi, ka coma, a i kekahi manawa make pū kekahi i ka pēpē.

ʻO ka ʻāpana "nonketotic" o ka inoa e pili ana i ka ʻoiaʻiʻo he ʻokoʻa ia mai nā maʻi ʻē aʻe e hiki ai ke hoʻonui i ka glycine i loko o ke kino. Ua kapa ʻia ʻo NKH he hewa hānau o ka metabolism . He kūlana ia e kū mai ana i ka wā hānau a hoʻopilikia i ke ʻano o ka hana pono ʻole ʻana o kekahi mau hopena kemika i loko o ke kino. ʻO kekahi inoa no kēia ʻo glycine encephalopathy.

Aia kekahi mau ʻano like ʻole o ka (NKH)?

ʻAe, ua hoʻokaʻawale nā ​​​​​​mea noiʻi iā NKH i ʻelua ʻano nui: kuʻuna a me ka ʻano like ʻole . Hoʻokumu ʻia kēia e ʻelua ʻano o nā loli i loko o nā genes. ʻO nā inoa kuʻuna a me ka ʻano like ʻole NKH e pili ana i ka gene i loaʻa ka mutation.

Ua māhele hou ʻia ke ʻano maʻamau (NKH) i ʻelua ʻano - koʻikoʻi a me ka hoʻēmi ʻia . Ua hoʻokaʻawale ʻia kēia mau mea e like me ke koʻikoʻi o nā hōʻailona. ʻO kēia mau mea , ʻo ke ʻano koʻikoʻi (NKH) ka mea maʻamau .

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka (NKH). Ma ka honua holoʻokoʻa, hoʻokahi i loko o 76,000 mau pēpē i hoʻopilikia ʻia e kēia maʻi. No laila, mai hopohopo ke lohe ʻoe e pili ana i kēia. Eia nō naʻe, he mea nui loa ka makaʻala.

He aha nā hōʻailona o ka maʻi (NKH)?

Hoʻomaka pinepine nā hōʻailona o nā ʻano koʻikoʻi a me nā ʻano ʻoluʻolu o ka "NKH" i ka wā hānau . I kekahi manawa, ʻike ʻia nā hōʻailona i loko o nā mahina mua o ke ola.

Nā hōʻailona o ke kūlana koʻikoʻi (NKH):

ʻO nā mea mua a nā pēpē me ka (NKH) koʻikoʻi e ʻike ai:

• Ka hiamoe nui (lethargy): Hiki i kēia ke hoʻonui mālie a holomua i kahi coma.
• Nāwaliwali o nā ʻiʻoHypotonia: Manaʻo paha ke pēpē ua make.
• Nā pilikia hanu e hoʻoweliweli ana i ke ola : Hiki ke ʻike ʻia kēia i nā lā mua o ke ola.

Inā ʻoe e pale i kēia mau hōʻailona mua, e ʻike pinepine ʻoe i kēia mau mea:

• Ka paʻakikī o ka inu ʻana i ka waiū.
• Ka pau ʻana o ka hanu ʻana i kekahi manawa (apnea).
• Ke kīnā noʻonoʻo koʻikoʻi .
• ʻOʻoleʻa ʻiʻo maʻamau ʻole (spasticity).
• Nā ʻōhū paʻakikī ke kaohi .

I ka manawa pinepine, ʻaʻole hiki i kēia mau keiki ke hana i nā pae hoʻomohala maʻamau, e like me ke kolo ʻana, ka paʻa ʻana i kahi mea pāʻani, ke noho ʻana i luna, a me ka inu ʻana mai ka ʻōmole. Inā paha e aʻo lākou i kekahi mea, hiki i kēlā mau mākau ke "hoʻi hou" i ka hala ʻana o ka manawa. E noʻonoʻo i ke kaumaha o ia mea no nā mākua.

Nā ʻano o ka NKH i hoʻemi ʻia:

ʻOi aku ka liʻiliʻi o nā hōʻailona o ka NKH ʻoluʻolu ma mua o nā NKH ʻoluʻolu, akā like pinepine lākou. ʻO ka maʻamau, hiki i nā keiki me ka NKH ʻoluʻolu ke hōʻea i ko lākou mau pae hoʻomohala, akā hiki ke ʻokoʻa loa ko lākou mau hiki . Hiki ke lohi ka hoʻomohala ʻana, akā i ka hopena, aʻo ka hapa nui o nā keiki e hele a kamaʻilio me nā poʻe ʻē aʻe. Loaʻa i kekahi mau keiki nā hopu ʻana, akā he ʻoluʻolu a hiki ke mālama ʻia kēia mau mea. Eia kekahi, ʻike ʻia paha nā hōʻailona e like me nā neʻe ʻana me ka makemake ʻole (chorea), ka paʻakikī o nā ʻiʻo (spasticity), a me ka hyperactivity (hyperactivity).

He aha ke kumu o ka ulu ʻana o ka (NKH) i nā pēpē?

ʻO ke kumu nui o kēia, ʻo ia nā loli i nā genes, a i ʻole nā ​​mutations . Ma ke ʻano kūikawā, ma kahi o 80% o nā maʻi i hoʻokumu ʻia e nā loli i loko o ka gene i kapa ʻia ʻo (GLDC). ʻO ke koena i hoʻokumu ʻia e nā loli i loko o ka gene i kapa ʻia ʻo (AMT).

Ke kuhikuhi nei kēia mau genes (GLDC) a me (AMT) i ko mākou kino e hana i nā (enzymes). Hana pū kēia mau (enzymes) ma ke ʻano he hui. Ua kapa ʻia kēia hui ʻo (glycine cleavage system ). ʻO ka hana a kēia, ʻo ia ka wā ʻaʻole mākou e pono ai (glycine), e wāwahi ia i nā ʻāpana liʻiliʻi. Ke piʻi ka nui o (Glycine), hoʻopilikia ia i ka hana o ka lolo.

No laila, inā he mutation i loko o kekahi o kēia mau genes ʻelua, lilo ia i mea paʻakikī i ko mākou kino ke wāwahi i ka glycine. Hoʻemi kekahi mau mutations i ka hana o kēia ʻōnaehana cleavage glycine, aʻo kekahi e hoʻopau loa iā ia. Ke hana pono ʻole kēia ʻōnaehana, hōʻiliʻili ka glycine keu i loko o nā ʻōpū o ka pēpē, ʻoi aku hoʻi ka lolo. ʻAʻole maopopo i nā kānaka ʻepekema pehea e hāʻawi ai kēia mau ʻano ʻē i nā hōʻailona NKH.

Ua hoʻoilina ʻia ka maʻi (NKH) ma ke ʻano autosomal recessive. ʻO ke ʻano kēia, pono i nā kope ʻelua o ka gene i loko o kēlā me kēia cell ke loaʻa ka mutation. ʻO ka maʻamau, loaʻa i nā mākua olaola ʻelua o ke kanaka me (NKH) hoʻokahi kope o kēia gene mutated, akā ʻaʻole lākou e loaʻa nā hōʻailona.

Pehea e ʻike ai nā kauka i ka maʻi (NKH)?

No ka ʻike ʻana i ka (NKH), e hana mua ke kauka o kāu pēpē i kahi hoʻokolokolo kino a nānā pono i nā hōʻailona. A laila,

• Hoʻāʻo ʻia ka pae o ka (glycine) i loko o ka wai cerebrospinal ((Cerebral Spinal Fluid - CSF)) a me ka plasma koko (plasma). Ke emi ka hana o ka (enzyme) i ʻōlelo ʻia ma luna, piʻi ka pae o ka (glycine) i loko o (CSF) a me ka plasma. Eia kekahi, piʻi pū ka lakio ma waena o ka pae o ka (glycine) i loko o (CSF) a me ka pae o ka (glycine) i loko o ka plasma.
• He mea pono loa nō hoʻi ka MRI scan o ka lolo , no ka mea, hiki iā ia ke hōʻike i kahi ʻano kikoʻī o nā loli i ka lolo o nā pēpē me NKH.
• Hiki i ka hoʻāʻo ʻana i ka genetic ke nānā i nā mutations i kekahi o nā genes ʻelua e hoʻoulu ai iā NKH.
• I ka manawa kākaʻikahi loa, hiki ke lawe ʻia kahi ʻāpana liʻiliʻi o ke akepaʻa no ka hoʻokolokolo ʻana (biopsy akepaʻa) e hōʻoia i ka maʻi.

He aha nā lāʻau lapaʻau no ka (NKH)?

No ka mea, maʻi nui nā pēpē me ka (Nonketotic Hyperglycinemia), pono lākou e mālama ʻia ma kahi (Neonatal Intensive Care Unit - NICU) . Ma ka (NICU), e loaʻa i kāu pēpē kahi pae kiʻekiʻe o ka mālama a me ka lāʻau lapaʻau.

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka (NKH) koʻikoʻi i kēia manawa . Eia nō naʻe, no nā pēpē me nā ʻano ʻoluʻolu o ka (NKH), hiki ke kōkua kekahi mau lāʻau lapaʻau. Pono e hāʻawi mua ʻia kēia mau lāʻau lapaʻau a me ka ikaika e lilo i mea maikaʻi loa.

Hiki ke hāʻawi ʻia kēia mau lāʻau lapaʻau hoʻokahi a i ʻole i ka hui pū ʻana:

• Nā lāʻau lapaʻau e hoʻemi i ka pae o ka (glycine) i loko o ke kino o ke pēpē (e.g. (sodium benzoate) ).
• Nā lāʻau lapaʻau e hana kūʻē i ka hana o ka (glycine) i loko o kekahi mau hunaola nerve (e.g. (ketamine) a i ʻole (dextromethorphan) ).

He mea nui loa hoʻi ka kaohi ʻana i nā hopu ʻana. Hiki ke paʻakikī ke kaohi i nā hopu ʻana me nā lāʻau lapaʻau maʻamau. No ka mālama pono ʻana, pono paha ʻoe e hoʻohui i kekahi mau lāʻau lapaʻau, a pono paha e pale ʻia kekahi mau lāʻau lapaʻau, e like me ka valproic acid . Hiki i ka ʻai ketogenic ke kōkua i ka kaohi ʻana i nā hopu ʻana.

Lapaʻau no nā hōʻailona ʻē aʻe (NKH):

• Hoʻoulu makani mīkini.
• He ʻōmole i hoʻokomo ʻia i loko o ka ʻōpū e hoʻolako i ka meaʻai (ʻōmole gastrostomy).
• Hoʻōla kino.
• Ke komo mua ʻana a me ke kākoʻo hou aku.

Inā hiki iā ʻoe, e nīnau i kāu kauka e pili ana i ka hiki ke komo i kahi hoʻokolohua lapaʻau .

He aha ke ola o kekahi me ka (NKH)?

He mea paʻakikī ke ʻōlelo pololei i ka lōʻihi o ke ola ʻana o kekahi me ka NKH. ʻO kēia no ka mea he nui nā ʻano hoʻololi genetic like ʻole a ʻokoʻa loa ke koʻikoʻi o ka maʻi. Eia nō naʻe, ua manaʻo ka Foundation for Nonketotic Hyperglycinemia ʻaʻole ola ka 80% o nā pēpē me ka maʻi i ka wā neonatal (ka mahina mua o ke ola) . Inā paha e ola lākou i ka wā neonatal, nui nā keiki me ka NKH koʻikoʻi ʻaʻole ola ma mua o 5 mau makahiki. E hiki i ka hui lapaʻau o kāu keiki ke hāʻawi iā ʻoe i kahi manaʻo maikaʻi aʻe no kēia. E hilinaʻi i ko lākou ʻike a me ke kākoʻo. Maopopo iaʻu ke paʻakikī o ka lohe ʻana i kēia.

Hiki ke pale ʻia kēia maʻi?

ʻAʻole. (NKH) he maʻi hoʻoilina a ʻaʻole hiki ke pale ʻia . Inā hopohopo ʻoe e hoʻoilina paha kāu keiki i kēia maʻi, he manaʻo maikaʻi e kamaʻilio me kahi kākāʻōlelo hoʻoilina ma mua o ka hoʻolālā ʻana i ka hāpai ʻana.

Āhea wau e lawe ai i kaʻu pēpē i ke kauka?

Inā hōʻike kāu pēpē hānau hou i ka palaualelo nui a ʻaʻole makemake i ka hānai waiū , pono ʻoe e lawe koke iā ia i kahi kauka keiki. Hiki i ke kauka ke kuhikuhi iā ʻoe i ka ʻoihana pilikia o ka haukapila no ka mālama koke ʻana. ʻOiai ke kumu o kēia mau hōʻailona, ​​​​he mea nui e nānā koke iā lākou.

He aha nā nīnau e pono iaʻu e nīnau aku i ke kauka o kaʻu pēpē?

Inā loaʻa i kāu pēpē ka (NKH), makemake paha ʻoe e nīnau i kēia mau nīnau:

• He aha ke kumu o ka hoʻokumu ʻia ʻana o (NKH)?
• He aha ke ʻano o ka (NKH) i loaʻa i kaʻu pēpē?
• He aha nā koho lapaʻau āu e paipai nei?
• Aia kekahi mau hoʻokolohua e hiki ke wānana i ke koʻikoʻi o kēia maʻi?
• Pehea ka mamao e hiki ai i kaʻu pēpē ke holomua ma ke ʻano o ka ulu ʻana (hele wāwae, kamaʻilio, akamai)?
• Pono anei kaʻu pēpē e lawe i ka lāʻau lapaʻau no ke koena o kona ola?
• Hiki i kaʻu mau keiki e hiki mai ana ke loaʻa pū kekahi i ka (NKH)?
• Hiki iā ʻoe ke paipai i kahi hui kākoʻo?

Ke ʻike ʻia kāu pēpē me ka Nonketotic Hyperglycinemia (NKH), hiki i ka nūhou ke lilo i mea hoʻohoka a me ke kumu o ka huikau. Hiki ke kaumaha ke ʻike he maʻi laha ʻole kāu pēpē me ka liʻiliʻi o nā lāʻau lapaʻau. Inā hiki, e ʻimi i kahi hui kākoʻo no nā ʻohana o nā keiki me NKH. ʻO ke kamaʻilio ʻana me nā poʻe ʻē aʻe i loaʻa i nā mea like me ʻoe hiki ke hāʻawi iā ʻoe i ka ikaika a kōkua iā ʻoe e hoʻomanawanui. E hoʻomanaʻo, aia ka hui lapaʻau o kāu pēpē e kākoʻo iā ʻoe i kēlā me kēia ʻanuʻu o ke ala.

## Nā Mea Koʻikoʻi e Hoʻomanaʻo (Leka Lawe-Home)

• He maʻi hoʻoilina koʻikoʻi loa ka (NKH).
• ʻO kēia ke kumu e hōʻiliʻili ai kahi kemika i kapa ʻia ʻo "glycine" i loko o ke kino o ke pēpē, ʻoi aku hoʻi i loko o ka lolo .
• Hoʻomaka pinepine nā hōʻailona i ka wā hānau a hiki ke komo pū me ka hiamoe nui, ka paʻakikī i ka hānai ʻana, ka paʻakikī i ka hanu ʻana, a me nā hopu ʻana.
• ʻAno koʻikoʻi (NKH)ʻOiai ʻaʻohe lāʻau lapaʻau, aia kekahi mau lāʻau lapaʻau akahai.
• Inā loaʻa i kāu pēpē kēia mau hōʻailona, ​​​​​​he mea nui e ʻimi koke i ke kōkua lapaʻau .
• ʻAʻole ʻoe hoʻokahi i kēia huakaʻi. E kiʻi i ke kōkua mai kāu hui lapaʻau a me nā hui kākoʻo . He mea nui loa nō hoʻi kou ikaika noʻonoʻo.

Manaʻolana wau he mea kōkua kēia ʻike iā ʻoe. ʻO ka mea nui loa i kēia mau manawa paʻakikī, ʻo ia ke noho ikaika.

ʻO ka Hyperglycinemia Nonketotic, NKH, Glycine, Nā Maʻi Genetic, Nā Maʻi Kamaliʻi, Nā Maʻi Neurological, Nā Kīnā Metabolic