Ke ʻike nei ʻoe i nā kiko ʻē ma kou ʻili? Ma muli paha o ka (Incontinentia Pigmenti)?

Ua lohe paha ʻoe i kēia maʻi i kapa ʻia ʻo `(Incontinentia Pigmenti)` a i ʻole `(IP)`? Malia paha ke lohe ʻoe i kēia inoa, he mea paʻakikī a ʻano ʻē paha. Akā he kumuhana koʻikoʻi kēia e pono ai mākou e kamaʻilio e pili ana, no ka mea, he maʻi genetic kakaikahi ia e hiki ke hoʻopilikia i kekahi mau keiki, ʻoi aku hoʻi nā kaikamahine. No laila i kēia lā e kamaʻilio mākou e pili ana i nā mea he nui ma nā ʻōlelo maʻalahi, e like me ke ʻano o `(Incontinentia Pigmenti)`, he aha kona mau hōʻailona, ​​a pehea e mālama ʻia ai.

He aha ka `(Incontinentia Pigmenti)`? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, ʻo Incontinentia Pigmenti kahi maʻi genetic dominant i hoʻopili ʻia e X. Ke noʻonoʻo nei paha ʻoe, "Auē, kauka, ʻaʻole maopopo iaʻu kēia." ʻAe, e hoʻomaʻalahi hou aku kākou. He kūlana ia i hoʻoili ʻia ma o nā genes, ʻo ia hoʻi, ua hoʻoili ʻia mai ka makua a i ke keiki. No loko ia o kahi hui o nā maʻi i kapa ʻia ʻo nā maʻi neurocutaneous. ʻO ia hoʻi, hiki i kēia mau ʻano maʻi ke hoʻopilikia i kā mākou ʻōnaehana nerve waena (ʻo ia hoʻi, ka lolo a me ke kaula spinal), ka ʻili, nā maka, nā niho, a me ka ʻōnaehana iwi .

I ke ʻano o `(IP)`, ʻo kekahi mau loli (nā hoʻololi ʻana) i loko o kā mākou mau genes ke kumu o ka ʻike mālie ʻana o nā kiko a me nā ʻāpana ma ka ʻili. ʻO kēia ka hōʻailona nui a maʻamau o kēia maʻi. Hiki ke ʻike ʻia kēia mau kiko ma ka ʻili i ka wā hānau, a i kekahi manawa hiki ke ʻike ʻia i kekahi mau pule ma hope o ka hānau ʻana.

ʻEhā ʻano kiko ma ka ʻili!

Hiki ke ʻike ʻia kēia mau kiko ʻili i hoʻokahi manawa, ma nā pae ʻehā. I kekahi manawa hiki ke hele mai kēia mau pae ma ke ʻano hoʻonohonoho, a i ʻole hiki ke ʻike ʻia kekahi pae ma hope o kekahi. E noʻonoʻo e like me ke kau e loli ana, akā i kekahi manawa pau kekahi kau ma mua o ka hoʻomaka ʻana o ka mea aʻe.

1. Kahua Vesicular: ʻO kēia ka wā e ʻike ʻia ai nā pehu liʻiliʻi, ʻulaʻula, piha i ka wai ma ka ʻili. Ua like lākou me nā pehu e ʻike ʻia i ka wā o ka moa. Hiki iā lākou ke ʻike ʻia he mau kaha ma ke kino holoʻokoʻa, ʻoi aku hoʻi ma nā lālā.

2. Kahua Verrucal: I ka hala ʻana o ka manawa , hoʻomaka nā wahi e like me ka wart, i hāpai ʻia, i hāpai ʻia e ʻike ʻia ma kahi o nā pehu. Hiki i kēia ke mau no kekahi mau mahina.

3. Kahua Hyperpigmentation: ʻO ka mea aʻe, ʻike ʻia nā kiko hina, polū-ʻeleʻele ma ka ʻili. ʻIke ʻia kēia mau mea ma ke kino a me nā lālā, e like me nā ʻano kinikini a i ʻole nā ​​laina nalu . ʻO kēia mau kiko kekahi o nā kumu i kapa ʻia ai ka inoa `(Incontinentia Pigmenti)`. ʻO "Pigmenti" ke ʻano o ka pigment. Hiki i kēia kahua ke mau no nā makahiki.

4. Kahua Hypopigmentation: I ka hopena, e pani ʻia nā kiko ʻeleʻele e nā kiko keʻokeʻo, i kekahi manawa e like me ka ʻeha . Hiki i kēia mau mea ke mau i ke ola holoʻokoʻa.

ʻO ka mea nui, ʻaʻole e loaʻa i nā kānaka a pau kēia mau manawa ʻehā ma kēia kaʻina. Hiki i kekahi poʻe ke ʻike wale i hoʻokahi manawa, aʻo kekahi poʻe e ʻike paha i kekahi mau manawa i ka manawa hoʻokahi.

ʻO ka hapa nui o ka manawa, hoʻokumu ʻia ka IP e kahi mutation i loko o kahi gene i kapa ʻia ʻo NEMO (NF-kappaB essential modulator). He gene koʻikoʻi kēia gene NEMO e kōkua ana i ka hoʻomalu ʻana i ka hana o nā cell i loko o ko mākou kino a kōkua pū kekahi i ka make ʻana o nā cell i hoʻolālā ʻia. ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau kūikawā no ka IP i kēia manawa.

He aha nā pilikia e hiki mai ana o ka `(Incontinentia Pigmenti)`?

ʻAʻole wale ka IP he maʻi ʻili. I kekahi manawa hiki iā ia ke hana i nā pilikia olakino ʻē aʻe. He mea nui loa ia iā kākou e makaʻala i kēlā.

Nā pilikia neurological

• Ka atrophy o ka lolo.
• Nā puka liʻiliʻi i loko o ka mea keʻokeʻo ma waenakonu o ka lolo.
• ʻO ka luku ʻia ʻana o nā hunaola aʻalolo i loko o ka cortex cerebellar.

No kēia mau kumu, ma kahi o 20% o nā keiki me ka `(IP)` e loaʻa paha nā kūlana penei:

• Nā mākau neʻe lohi (e.g., lohi ke kolo ʻana, lohi ka hele ʻana).
• Nā kīnā noʻonoʻo (e like me ke kīnā aʻo).
• Ka nāwaliwali o nā ʻiʻo.
• Ke loaʻa nei i kahi maʻi (nā hopu).

Nā pilikia ʻike

Hiki i kekahi mau keiki me ka `(IP)` ke loaʻa nā pilikia ʻike. Eia kekahi laʻana:

• Nā maka keʻa (strabismus).
• Nā katarata.
• I kekahi mau hihia koʻikoʻi, hiki ke nalowale loa ka ʻike .

Nā pilikia niho

Hiki ke ʻike ʻia nā pilikia niho me ka `(IP)`.

• Ua nalowale kekahi mau niho.
• He ʻano "pinepine" nā niho.
• Ka lohi o ka ulu ʻana o nā niho.

ʻO kēia ke kumu he mea nui loa ka ʻimi ʻana i ka ʻōlelo aʻo a ke kauka niho.

He aha ka `(Incontinentia Pigmenti Achromians)`?

ʻO kekahi kūlana ʻē aʻe i like iki me kēia ʻo ia ka `(incontinentia pigmenti achromians)`. Ma kēia, ulu ka ʻili i nā wrinkles māmā, palale (hypopigmented) a me nā kaha . ʻAʻole e like me nā kiko ʻeleʻele ma `(IP)`, loaʻa i kēia kūlana nā kiko māmā wale nō. Eia naʻe, e like me `(IP)`, hiki ke pili pū kēia kūlana `(incontinentia pigmenti achromians)` me nā pilikia i loko o ka ʻōnaehana nerve.

Pehea e mālama ʻia ai ʻo `(Incontinentia Pigmenti)`?

E like me kā mākou i ʻōlelo ai ma mua, ʻaʻohe lāʻau lapaʻau kūikawā no ka `(IP)` i kēia manawa. Eia nō naʻe, aia nā ʻano lāʻau like ʻole e loaʻa ai e kāohi i nā hōʻailona a me nā pilikia i hoʻokumu ʻia e kēia ʻano. Hoʻoholo ʻia ka lāʻau lapaʻau e nā hōʻailona o kēlā me kēia kanaka.

• Nā kiko ʻili: ʻO ka hapa nui o ka manawa, ʻo kēia mau kiko ʻili, ʻoiai nā pehu a me nā kiko ʻāʻī e ʻike ʻia ana i nā wā mua, e mae mālie ana me ka ʻole o ka mālama ʻia, i ka wā ʻōpio a i ʻole ka wā makua.Hiki i kēlā mau kiko ʻeleʻele (hyperpigmentation) a me nā kiko māmā (hypopigmentation) ke mau no ka manawa lōʻihi, i kekahi manawa no ke ola holoʻokoʻa. Akā, ʻaʻole lākou e hōʻeha pinepine.
• Nā hōʻailona o ka ʻōnaehana nerve: Inā loaʻa iā ʻoe nā hopu ʻana, nāwaliwali o nā ʻiʻo, a i ʻole nā ​​​​spasms ʻiʻo kūpono ʻole, hiki i kahi neurologist ke kuhikuhi i nā lāʻau lapaʻau a me kekahi mau mea lapaʻau .
• Nā pilikia ʻike: Inā ʻike maikaʻi ʻole ʻoe, hiki i kāu kauka ke ʻōlelo i nā aniani, nā lāʻau lapaʻau, a i ʻole, i nā hihia koʻikoʻi, ke ʻoki ʻana .
• Nā pilikia niho: Hiki i nā loea olakino niho ke mālama i nā pilikia niho. Hiki iā lākou ke hana i nā mea e like me nā hoʻopihapiha a me nā niho kuʻi.

Pehea lā ke ʻano o ke ola me ke kūlana `(Incontinentia Pigmenti)`? (Prognosis)

He pilikia kēia no nā kānaka he nui. ʻAʻole nā ​​kānaka a pau me ka IP e loaʻa i nā pilikia koʻikoʻi. Hiki i nā kānaka he nui, ʻoiai ka poʻe i loaʻa ʻole i nā pilikia koʻikoʻi i ka wā kamaliʻi a i ʻole ka wā kamaliʻi, ke ola i kahi ola maʻamau a olakino. ʻO nā kiko pigment e kū mai ana ma ka ʻili e mae pinepine i ka hala ʻana o ka manawa, a i kekahi manawa e nalowale loa.

Eia nō naʻe, hiki i kekahi poʻe ke hoʻomau i ka loaʻa ʻana o nā pilikia neurological a me ke kino. No laila, inā loaʻa iā ʻoe a i ʻole kāu keiki ka IP, ʻoi aku ka maikaʻi o ke kamaʻilio ʻana me kāu kauka a i ʻole ke kākāʻōlelo genetic e hoʻoholo i ka hoʻolālā mālama ola kino maikaʻi loa nāu.

Ke hana nei nā kānaka noiʻi i nā haʻawina pili genetic e ʻike ai i kahi o nā genes e pili ana i nā maʻi neurocutaneous e like me IP. Ke aʻo pū nei lākou pehea e hoʻopilikia ai kēia mau hoʻololi genetic i ka ulu ʻana a me ka hana o ka lolo a me ka ʻōnaehana nerve. E kōkua nā noiʻi e like me kēia iā mākou e hoʻomaopopo hou aʻe e pili ana i nā maʻi genetic a hiki ke hoʻomākaukau i ke ala no nā lāʻau lapaʻau e hiki mai ana.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

• He maʻi laha ʻole ka Incontinentia Pigmenti e hoʻopilikia nui ana i ka ʻili, akā hiki ke hoʻopilikia i ka ʻōnaehana nerve, nā maka, a me nā niho.
• Hiki ke ʻike ʻia nā kiko ʻili i ʻehā mau pae. Maʻamau e mae kēia mau mea i ka hala ʻana o ka manawa.
• ʻAʻole loaʻa i nā kānaka a pau nā pilikia koʻikoʻi. Hiki i ka hapa nui o ka poʻe ke ola i kahi ola maʻamau.
• Hoʻoholo ʻia ka lāʻau lapaʻau e nā hōʻailona. Hiki iā ʻoe ke ʻimi i ke kōkua mai nā loea i ka neurology, ophthalmology, a me ka dentistry.
• Inā he hopohopo kou a i ʻole kāu keiki e pili ana i kēia maʻi, e ʻimi koke i ke kōkua lapaʻau. ʻO ka mea nui loa, ʻaʻole e hopohopo, e kiʻi i ka ʻike kūpono, a e ʻimi i ka lāʻau lapaʻau e pono ai.

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. Inā he mau nīnau kāu, mai hilahila a nīnau i ke kauka. Eia mākou a pau e kōkua iā ʻoe.

ʻO Incontinentia Pigmenti, IP, nā maʻi ʻili, nā maʻi genetic, NEMO gene, nā kiko ʻili, nā maʻi neurological, nā maʻi pediatric