Loaʻa i kāu keiki liʻiliʻi nā pilikia lohe a me ka larynx? E aʻo kākou e pili ana i ka Pendred Syndrome!

ʻAʻole anei e hoʻohoka kāu keiki liʻiliʻi i nā leo nui? A i ʻole ʻaʻole ʻo ia e nānā i hope ke kāhea ʻia kona inoa? I kekahi manawa, ma hope o kēia mau mea, aia paha kahi maʻi genetic kakaikahi a mākou e noʻonoʻo ʻole ai. ʻO ia ke ʻano o ka Pendred Syndrome . Mai hopohopo, i kēia lā e kamaʻilio maʻalahi mākou e pili ana i kēia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka Pendred Syndrome?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaʻikahi ka Pendred Syndrome. I kēia hihia, hiki ke hānau ʻia kāu pēpē me ka nalowale o ka lohe mau loa. Hoʻopilikia pinepine kēia nalowale o ka lohe i nā pepeiao ʻelua a hiki ke ʻoi aku ka ʻino i ka hala ʻana o ka manawa. Eia kekahi, hiki i nā keiki a me nā ʻōpio me Pendred Syndrome ke loaʻa i kahi goiter , ʻo ia hoʻi kahi kelepa thyroid i hoʻonui ʻia ma ka ʻāʻī. I kekahi manawa, akā kakaʻikahi loa, hiki i kēia goiter ke hana i kahi kelepa thyroid hana ʻole (hypothyroidism).

E noʻonoʻo i ka paʻakikī o ka ʻike ʻana ua loaʻa i kāu keiki kēia maʻi. Akā ʻo ka mea nui loa, ʻaʻole ia e hopohopo . E kōkua kāu kauka iā ʻoe e hoʻokele i ke kūlana a kāohi i nā hōʻailona o kāu keiki i ka hiki. E haʻi pū lākou iā ʻoe e pili ana i nā mea kōkua hoʻolohe e kūpono i kāu keiki, a me nā hoʻolālā kamaʻilio. A laila, ʻaʻole e lilo ka nalowale o ka lohe i mea keakea nui i nā mākau ʻōlelo a me ke aʻo ʻana o kāu keiki.

He aha nā hōʻailona o ka Pendred syndrome?

ʻO ka hōʻailona nui a maopopo loa o kēia ʻano, ʻo ia ka nalowale o ka lohe . Hiki ke ʻokoʻa ka nui o kēia nalowale mai kēlā kanaka a kēia kanaka. Hiki i kekahi mau keiki ke loaʻa i kahi nalowale o ka lohe iki a koʻikoʻi (kuli). No ka laʻana, hiki i kahi keiki me kahi nalowale o ka lohe kūpono ke lohe i nā kānaka e kamaʻilio ana akā ʻaʻole hiki iā ia ke hoʻomaopopo i kā lākou e ʻōlelo nei.

ʻO ka hapa pinepine, loaʻa kēia pohō lohe i ka wā hānau, akā i kekahi manawa hiki ke ʻike ʻia i ka wā kamaliʻi, ka wā kamaliʻi, a ma hope paha.

ʻO nā hōʻailona o ka nalowale o ka lohe i hoʻokumu ʻia e ka Pendred syndrome e komo pū me:

• ʻAʻole e ʻoni iki kahi pēpē liʻiliʻi ʻoiai ke lohe i kahi walaʻau nui.
• ʻAʻole pane mai ke pēpē ke kāhea ʻia kona inoa.
• ʻAʻole i ʻōlelo ke pēpē i kāna ʻōlelo mua ma kahi o hoʻokahi makahiki.
• Ke hoʻomaka nei e ʻōlelo ma hope o nā keiki ʻē aʻe o ka makahiki like.
• Ke noi mau nei ke keiki iā ʻoe e "ʻōlelo hou i kēlā."

Ma waho aʻe o kēia mau pilikia lohe, aia kekahi mau hōʻailona ʻē aʻe:

• Nā pilikia kaulike i ka wā e hele wāwae ana - no ka laʻana, ka lōʻihi o ka manawa e hoʻomaka ai e hele wāwae. Eia naʻe, ʻaʻole kēia e hana i nā mea āpau a he mea kakaikahi loa ia.
• Goiter - ʻIke pinepine ʻia kēia i ka wā ʻōpiopio o ke keiki, ʻo ia hoʻi, i ka wā ʻōpio a i ʻole ka wā makua.
• Hypothyroidism - He maʻi laha ʻole kēia.

No ke aha i loaʻa ai kēia maʻi Pendred?

ʻO ke kumu nui o ka maʻi Pendred he hoʻololi ʻana o ka genetic i loko o kahi gene i kapa ʻia ʻo `SLC26A4` . Kōkua kēia gene i ko mākou kino e hana i kahi protein i kapa ʻia ʻo `pendrin` . Pili kēia pendrin i ko mākou lohe a me ka hana o ka thyroid gland. Ua ʻike anei ʻoe e hana ana ka thyroid gland i nā hormones e kāohi ana i ke ʻano o ka hoʻohana ʻana o ko mākou kino i ka ikehu (metabolism).

No laila, i ka wā e loaʻa ai kahi pilikia me kēia protein pendrin, ʻaʻole paha e ulu pono nā ʻano i loko o ka pepeiao o loko o ke keiki e pili ana i ka lohe . ʻO kēia ke kumu o kahi kūlana i kapa ʻia ʻo sensorineural hearing loss . ʻO "Sensorineural" ke ʻano he mau loa kēia nalowale o ka lohe a ua hoʻokumu ʻia e kahi pilikia i loko o ka pepeiao ponoʻī. Hiki i kēia mau pilikia ke komo pū me:

• Nā Aqueducts Vestibular i Hoʻonui ʻia (EVAs) : ʻO kāu mau aqueducts vestibular he mau ʻōmole iwi liʻiliʻi e hoʻopili ana i kou pepeiao i loko i ke poʻo. He nui ka poʻe me nā aqueducts vestibular i hoʻonui ʻia e ʻike i ka nalowale o ka lohe.
• ʻO kahi cochlea me nā "huli" liʻiliʻi ma mua o ka maʻamau : ʻO ka cochlea ka ʻāpana o loko o kā mākou ʻōnaehana lohe. He ʻano ʻōwili ia, e like me ke awāwa o kahi nahe. ʻO ka maʻamau he 2 a me 3/4 mau huli. ʻO kahi keiki me ka maʻi Pendred he emi paha ka nui o nā huli ma kēia ʻōwili ma mua o ke kanaka maʻamau. Pili pū kēia me ka nalowale o ka lohe.

Eia kekahi, e like me kaʻu i ʻōlelo ai ma mua, hoʻopilikia pū ka pendrin i ke ʻano o ka hana ʻana o ke kelepa thyroid. No laila, i ka wā e loaʻa ai nā pilikia me ke kelepa thyroid, hiki iā ia ke pehu (goiter) a ʻaʻole lawa ka hana ʻana i nā hormones.

Pehea e hoʻoilina ai ka Pendred syndrome i kahi keiki?

He mea paʻakikī iki paha kēia e hoʻomaopopo, akā e ʻae mai iaʻu e hoʻomaopopo maʻalahi. Hoʻoilina ke keiki me ka Pendred syndrome i ke ʻano ma ke ʻano autosomal recessive . ʻAe, kani paʻakikī iki kēia, ʻeā? I ka hoʻomaopopo maʻalahi ʻana, penei:

I mea e hōʻike ai ke keiki i kēia mau hōʻailona, ​​​​pono lākou e hoʻoilina i ʻelua kope o kēia hoʻololi ʻana o ka gene - hoʻokahi mai ko lākou makuahine a hoʻokahi mai ko lākou makuakāne.

I kēia hihia, ʻo nā mākua ʻelua nā mea lawe o ka gene i hoʻololi ʻia. ʻO ia hoʻi, loaʻa iā lāua ʻelua hoʻokahi gene i hoʻololi ʻia a me hoʻokahi gene maʻamau. Ma muli o kēlā gene maʻamau, ʻaʻole i loaʻa i nā mākua ka maʻi Pendred. Eia naʻe, i ka wā e loaʻa ai iā lāua kahi keiki, aia ma kahi o 25% ka manawa e loaʻa ai i ke keiki ke ʻano. E noʻonoʻo e like me ka hoʻolei ʻana i ʻelua mau kālā a e piʻi aʻe nā poʻo ʻelua.

Pehea e ʻike ʻia ai ka maʻi Pendred?

He aha e hana ai e nānā i nā pilikia lohe i nā pēpē hānau houHana pinepine ʻia nā nānā ʻana i ka lohe ma nā haukapila. Inā hōʻike kahi hoʻāʻo lohe i ka nalowale o ka lohe, pono nā hoʻāʻo hou aʻe e hōʻoia i ka hōʻailona. A laila wale nō e hana ʻia nā hoʻāʻo kikoʻī e nānā i ka maʻi Pendred. A i ʻole, inā kānalua ʻoe he pilikia lohe kāu keiki, hiki iā ʻoe ke ʻike i ke kauka. I kēia manawa, e ʻike paha ʻoe i kahi otolaryngologist (ENT) a i ʻole kahi loea genetics .

E nīnau ke kauka iā ʻoe e pili ana i ka pilikia lohe o kāu keiki. Eia kekahi laʻana, i ka manawa hea ʻoe i ʻike mua ai a inā paha i loaʻa i kekahi o kou ʻohana nā pilikia lohe ma mua. ʻOiai he maʻi hoʻoilina ʻo Pendred syndrome, hiki paha i kekahi o kou ʻohana ke loaʻa pū kekahi.

Eia nā hoʻokolohua e kōkua i ka ʻike ʻana i ka maʻi Pendred:

• Nā hoʻāʻo hoʻolohe : ʻO kēia mau mea e komo pū me nā hoʻokolohua e like me Otoacoustic Emissions (OAE) a me Auditory Brainstem Response (ABR) . Nānā kēia i ka hana o ka pepeiao o loko a me nā ala lohe. I ka wā e ʻelemakule ai ke keiki, hiki ke hana ʻia nā hoʻokolohua hou aʻe e ʻike ai inā e loli ana ka nalowale o ka lohe.
• Nā scan kiʻi : Hana ʻia kahi scan CT a i ʻole MRI scan e nānā i nā ʻano ʻē i loko o ka pepeiao o loko. No ka laʻana, hiki i kēia mau scan ke nānā i nā aqueducts vestibular i hoʻonui ʻia (EVAs) a i ʻole kahi cochlea ʻē.
• Ka hoʻāʻo ʻana i ka hoʻoilina : Hiki i nā hoʻāʻo koko e nānā i ke alo o ka hoʻololi ʻana o ka gene SLC26A4 ke hōʻoia i ka maʻi.

Inā he goiter kāu keiki, e ʻike paha lākou i kahi endocrinologist e nānā i nā pilikia thyroid.

Pehea e mālama ʻia ai ka maʻi Pendred?

ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka maʻi Pendred . Eia nō naʻe, he nui nā koho e mālama ai i ke kūlana. Pili ka lāʻau lapaʻau i nā kumu he nui, e like me nā ʻano ʻē i loaʻa i ka pepeiao o loko o ke keiki a me ke koʻikoʻi o ka nalowale o ka lohe.

Nā koho lapaʻau no ka maʻi Pendred:

• Nā ʻano hoʻonaʻauao a me ke kamaʻilio ʻana: Pono ke keiki e kōkua ʻia e aʻo i nā ʻano ʻē aʻe e kamaʻilio ai a launa pū me nā poʻe ʻē aʻe, ʻaʻole wale ma o ka lohe ʻana. Eia kekahi laʻana, nā mea e like me ka ʻōlelo lima.
• Nā mea hoʻolohe : Nā mea kōkua hoʻolohe a i ʻole kahi mea hoʻokomo cochlear e kōkua i kāu keiki e lohe maikaʻi.ʻAe, pono paha. Hāʻawi kēia mau mea hana i ke kōkua nui, ma ka liʻiliʻi e hoʻomaka ke keiki e lohe i nā leo. Hana pū kekahi loea pepeiao a me kahi loea pepeiao, ihu a me ka ʻāʻī e ʻōlelo i ka ʻenehana lohe kūpono loa no ke keiki.
• Nā lāʻau lapaʻau thyroid : Inā he thyroid hana ʻole ko kāu keiki (hypothyroidism), pono paha lākou e lawe i nā pila hormone thyroid (nā mea hoʻohui thyroid). Inā nui loa ka goiter, pono paha e wehe ʻia ma ke ʻoki kino (thyroidectomy).

Inā loaʻa i kaʻu keiki ka Pendred syndrome, he aha kaʻu e manaʻo ai?

I ka hapanui o nā hihia o ka maʻi Pendred , e lilo mālie ka nalowale o ka lohe i ka ʻino (ka nalowale o ka lohe holomua) . Hiki i kekahi mau keiki ke nalowale loa i ko lākou lohe i ka hala ʻana o ka manawa. Eia nō naʻe, ʻokoʻa ke koʻikoʻi o kēia mai kēlā kanaka a kēia kanaka. Hoʻohana ka nui o nā keiki i nā mea kōkua lohe a i ʻole nā ​​​​​​mea hoʻokomo cochlear e hoʻokō i ka lohe kokoke i ka maʻamau a ola maikaʻi. E aʻo aku ka hui lapaʻau o kāu keiki iā ʻoe i nā koho lapaʻau maikaʻi loa e kōkua i ka lohe o kāu keiki.

ʻO ka mea nui loa, ʻo ia ke ʻike i kēia kūlana a hoʻomaka i ka lāʻau lapaʻau i ka hikiwawe loa. Ma kēia ʻano, hiki i ke keiki ke aʻo pehea e kamaʻilio ai me nā poʻe ʻē aʻe a holomua pū me nā keiki ʻē aʻe o kona mau makahiki ponoʻī.

He maʻi ola ka Pendred syndrome. Eia naʻe, ʻaʻole ia manaʻo ʻaʻole hiki i ke keiki ke hoʻomaopopo i nā poʻe ʻē aʻe a hōʻike paha i ko lākou mau manaʻo.

Pehea lā wau e mālama ai i kaʻu keiki?

Inā loaʻa i kāu keiki ka maʻi Pendred, he mea nui e pale iā lākou mai nā ʻeha poʻo, e like me nā keiki ʻē aʻe . No ka laʻana, ʻo ke kau ʻana i ka mahiole i ka wā e holo ana i kahi paikikala hiki ke kōkua i ka hōʻemi ʻana i ka pilikia o ka nalowale koke o ka lohe ma muli o ka ʻeha poʻo i kahi ulia. Hiki i nā mea liʻiliʻi e like me kēia ke hana i kahi ʻokoʻa nui.

Āhea wau e ʻike ai i ke kauka?

E waiho kākou ma ka ʻaoʻao inā paha ʻo ke kumu ʻo Pendred syndrome a i ʻole kekahi mea ʻē aʻe. Inā ʻike ʻoe i kekahi mau loli a hemahema paha i ka lohe o kāu keiki, pono ʻoe e ʻike i ke kauka. No ka mea, ʻo ka wikiwiki o ka loaʻa ʻana o kahi hōʻailona, ​​ʻo ka wikiwiki o ka hiki iā ʻoe ke hoʻokele i ka nalowale o ka lohe a hoʻomaka i ka mālama ʻana. He mea nui loa ia no ka wā e hiki mai ana o ke keiki.

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

Ke hele ʻoe e ʻike i ke kauka, e mākaukau e nīnau i nā nīnau e like me kēia:

• ʻO wai ka mea e komo i loko o ka hui lapaʻau e mālama ana i kaʻu keiki? (e.g. kauka ENT, loea pepeiao, loea genetic)
• He aha nā hōʻailona e hōʻike ana e ʻino ana ka lohe o kaʻu keiki?
• He aha nā koho lapaʻau?
• He aha kāu papa hana lapaʻau i manaʻo ʻia?
• He aha nā hana ʻē aʻe e hōʻino ai i ka lohe o kaʻu keiki? (e laʻa me nā leo nui, kekahi mau haʻuki)
• He aha nā kumuwaiwai i loaʻa e kōkua i nā keiki a me nā mākua e hoʻoponopono i ka nalowale o ka lohe o nā kamaliʻi? (e.g., nā lawelawe aʻoaʻo, nā hui kākoʻo)

Me ka maʻi Pendred, hiki i ke keiki ke nalowale i ka hiki ke lohe i nā leo e kōkua iā lākou e pili me ko lākou wahi. Eia naʻe, ʻaʻole kēia manaʻo e pono ke keiki e pale aku i kēia mau pilina a mau loa aku. Hiki i nā mea kōkua lohe ke kōkua nui no nā keiki he nui me kēia maʻi. ʻO ke aʻo ʻana i nā mākau kamaʻilio i ka wā ʻōpiopio ke kōkua i kāu keiki e launa pū, ʻaʻohe mea nui i ka nui o ko lākou nalowale lohe. E hiki i ka hui mālama ola o kāu keiki ke kamaʻilio me ʻoe e pili ana i nā ʻanuʻu hiki iā ʻoe a me kou ʻohana ke hana e kōkua i kāu keiki. E hoʻoikaika, ʻaʻole ʻoe hoʻokahi!

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

• ʻO ka Pendred Syndrome kahi maʻi hoʻoilina e kumu nui ai ka nalowale o ka lohe a i kekahi manawa ka otitis media.
• He mea nui loa ka ʻike mua ʻana a me ka mālama ʻana. Hiki i kēia ke hoʻomaikaʻi nui i ke ʻano o ke ola o ke keiki.
• ʻOiai ʻaʻohe lāʻau lapaʻau, aia nā ala e mālama ai. ʻO kēia mau mea me nā mea kōkua hoʻolohe, ka hoʻōla ʻōlelo, a inā pono, ka mālama ʻana i ka thyroid.
• He mea nui e hāʻawi i ke aloha, ke kākoʻo, a me ka hoʻoikaika i ke keiki. ʻOiai e hahai ana i nā ʻōlelo aʻoaʻo lapaʻau, e kōkua i ke keiki e ola i kahi ola maʻamau a hauʻoli.
• E pale i kāu keiki mai nā ʻeha poʻo. E hōʻemi kēia i ka manawa kūpono o ka nalowale o ka lohe e ʻoi aku ka nui.

Inā he mau nīnau hou aku kāu e pili ana i kēia, mai makaʻu e kamaʻilio me kāu kauka. Ua mākaukau mau lākou e kōkua iā ʻoe.

ʻO ka maʻi Pendred, ka hemahema o ka lohe, ka tonsillitis, nā maʻi genetic, ke olakino o nā keiki, nā mea kōkua lohe, ka thyroid