He ʻokoʻa anei nā kui a me nā kuli o kāu keiki? He Nail-Patella Syndrome paha ia?

Ua ʻike anei ʻoe i kekahi mau loli i nā kui a i ʻole nā ​​kuli o kāu keiki liʻiliʻi? I kekahi manawa he mau hōʻailona kēia o kahi maʻi genetic i kapa ʻia ʻo Nail-Patella Syndrome. He mea weliweli paha kēia, akā mai hopohopo. E kamaʻilio kākou e pili ana i ia mea me nā kikoʻī a me ka maʻalahi. Hiki i kēia ke hoʻopilikia i ke ʻano a me ka hana o nā ʻāpana o nā kui, nā iwi, nā maka, a me nā puʻupaʻa o ke keiki.

He aha nā hōʻailona o kēia maʻi? Pehea ʻoe e ʻike ai?

Hiki i kekahi mau ʻāpana o ke kino o ke keiki me ka Nail-Patella Syndrome ke ʻano a hana paha ma ke ʻano ʻē aʻe ma mua o ka mea i manaʻo ʻia. E nānā kākou i kēia mau hōʻailona:

Nā kui

He pōkole loa paha nā kui o kāu keiki, a nalowale paha. E ʻike paha ʻoe i ka lua, ka lua, a i ʻole ke kala ʻana o ke kala i nā kui. ʻOi aku ka pilikia o nā kui lima ma mua o nā kui wāwae. ʻIke nui ʻia kēia mau loli ma ka manamana nui a me ka manamana kuhikuhi.

Kuli (Patella)

ʻO ke poʻo kuli, a i ʻole ka mea a nā kauka e kapa nei ʻo "Patella", hiki ke liʻiliʻi, loaʻa ke ʻano ʻē aʻe, a nalowale paha. I kekahi manawa hiki ke hoʻonoho ʻia kēia poʻo kuli i luna iki a i ʻole ma ka ʻaoʻao ma mua o ka maʻamau. Hiki i kēia ke hōʻeha i ke kuli o ke keiki, manaʻo paʻa ʻole, a i ʻole hiki ʻole ke kūlou a hoʻopololei paha i ke kuli (range of motion). He mea maʻamau ka dislocations o Patella i kēia kūlana. E noʻonoʻo, i ka wā e pāʻani ana, hopu koke kāu keiki i kona kuli a hoʻomaka e uē, ʻaʻole hiki ke hele.

Kuʻekuʻe

ʻAʻole paha e ulu pono nā iwi ma nā lima o kāu keiki e like me ka mea i manaʻo ʻia. Eia kekahi, i kekahi manawa e ʻike paha ʻoe i ka ʻili keu (e like me ka ʻiʻo hoʻohui) a puni ke kuʻekuʻe. Hiki i kēia mau hoʻololi ke kaupalena i ka hiki ke hoʻohuli i ka lima, hoʻolōʻihi iā ia, a kulou i ke kuʻekuʻe.

Nā iwi ʻūhā

Hiki i kāu keiki ke loaʻa nā iwi liʻiliʻi e puka ana (kapa nā kauka i kēia mau 'iliac horns') ma ko lākou mau iwi ʻūhā. Aia pinepine lākou ma nā ʻaoʻao ʻelua o ka iwi ʻūhā. I kekahi manawa hiki ke ʻike ʻia ma o ka ʻili o ke keiki, akā ʻo ka hapa nui o ka manawa ʻaʻole ia he pilikia nui.

Nā maka

Hiki ke piʻi aʻe ke kaomi i loko o nā maka o ke keiki (ocular hypertension). Hiki i kēia ke lilo i maʻi i kapa ʻia ʻo glaucoma. ʻOiai ʻaʻohe hōʻailona i ka wā mua, hiki i kekahi mau keiki ke loaʻa i ka ʻeha poʻo, nā halo a puni nā kukui, a i ʻole ka ʻike maka pohihihi.

nā puʻupaʻa

Ma kahi o ʻehā o ka ʻumi mau kānaka me ka maʻi Nail-Patella e loaʻa i nā maʻi puʻupaʻa, i ka wā kamaliʻi a i ʻole i ka wā makua. Hiki i kēia ke ʻano mai ka liʻiliʻi a hiki i ka hoʻoweliweli i ke ola. ʻOiai nā maʻi puʻupaʻa liʻiliʻi, hiki ke lilo i mea koʻikoʻi, i ka mālie a i ʻole ka koke.

Nā hōʻailona ʻē aʻe

Hiki i kekahi poʻe me ka maʻi Nail-Patella ke loaʻa nā hōʻailona ʻē aʻe, e like me:

• Ke hele wāwae nei ma luna o nā manamana wāwae ma muli o ka paʻa ʻana o ke aʻalolo Achilles.
• Ua emi ka nui o nā ʻiʻo ma nā lima a me nā wāwae.
• Ka paʻa ʻana a me/a i ʻole ka maʻi ʻōpū huhū.
• Ua emi ka nui o ka mineral iwi.
• I kekahi manawa he mae wale, ʻūlū, a nalowale paha ka ʻike ma nā lima a me nā wāwae.
• Nā niho nāwaliwali a haki maʻalahi paha a lahilahi paha ka enamel niho.
• Ke kūlou ʻano ʻē o ka iwi kuamoʻo (scoliosis).

Ke ho'āʻo nei nā kānaka noiʻi e hoʻomaopopo pono i ke ʻano maʻamau o kēia mau pilikia i waena o ka poʻe me ka maʻi Nail-Patella.

No ke aha e kū mai ai kēia maʻi nail-patella?

I ka ʻōlelo maʻalahi, ua hoʻokumu ʻia ka Nail-Patella Syndrome e nā loli i nā genes o kāu keiki (nā ʻano gene). ʻO ka hapa nui , loaʻa kēia mau loli i loko o kahi gene i kapa ʻia ʻo LMX1B i nā poʻe me kēia maʻi. ʻO kēia gene LMX1B ka mea e haʻi i kahi keiki pehea e hana pono ai i nā mea e like me ko lākou mau lima, nā wāwae, nā maka, a me nā puʻupaʻa i ko lākou wā i loko o ka ʻōpū.

ʻO kēia mau ʻano like ʻole o ka gene ke kumu o ka hana ʻole ʻana o ka protein LMX1B e like me ka mea i manaʻo ʻia. ʻO ka hopena, ʻaʻole hana maʻamau nā ʻāpana like ʻole o ke kino o ke keiki, e hopena ana i nā hōʻailona o ka Nail-Patella syndrome.

Eia nō naʻe, he mea kākaʻikahi loa, hiki i kekahi poʻe ke hoʻomohala i nā hōʻailona o ka maʻi Nail-Patella me ka ʻole o kahi mutation i loko o ka gene LMX1B. Manaʻo nā kānaka noiʻi he pili paha nā gene ʻē aʻe, a ke noiʻi nei lākou.

Ua hoʻoili ʻia kēia maʻi mai kēlā hanauna a i kēia hanauna?

ʻAe, ʻo ka Nail-Patella Syndrome kahi maʻi i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna (ma ke ʻano "autosomal dominant pattern"). ʻO ke ʻano kēia, inā loaʻa i kahi keiki hoʻokahi kope o kēia ʻano gene mai kekahi o nā mākua, ʻoi aku ka nui o ka loaʻa ʻana o kēia syndrome i ke keiki.

I ka ʻōlelo maʻalahi, inā loaʻa iā ʻoe ka Nail-Patella syndrome, loaʻa i kāu mau keiki he 50% ka manawa e hoʻoilina ai i ke kūlana. Ua like kēia pilikia no kēlā me kēia hāpai ʻana. ʻAʻole ia he mea nui inā he kaikamahine a he keikikāne paha ʻoe.

Ma kahi o ʻeiwa o ka ʻumi o ka poʻe me ka maʻi Nail-Patella kekahi o ko lākou mau mākua me ke ʻano. Eia nō naʻe, ma kahi o hoʻokahi o ka ʻumi o ka poʻe ʻaʻole paha he lālā o ka ʻohana me ke ʻano. ʻO ke ʻano kēia, ʻo kekahi mau keiki ka poʻe mua o ko lākou ʻohana e hānau ʻia me ka maʻi.

He aha nā pilikia ʻē aʻe e hiki ai i kēia ke hana?

Hiki i ka Nail-Patella Syndrome ke hana i kekahi mau pilikia. ʻO lākou kēia:

• Hiki ke ulu aʻe ka Osteoarthritis (ʻeha hono) ma nā kuli a me/a i ʻole nā ​​kuʻekuʻe lima o kāu keiki i ka wā ʻōpio ma mua o ka mea i manaʻo ʻia.
• Hiki i ka Glaucoma ke alakaʻi i ka nalowale o ka ʻike inā ʻaʻole mālama pono ʻia.
• Ka hāʻule ʻana o nā puʻupaʻa.

Pono paha kekahi poʻe me ka Nail-Patella syndrome i ka dialysis a i ʻole kahi hoʻoili puʻupaʻa ma muli o ka hāʻule ʻana o ka puʻupaʻa.

Eia kekahi, inā hāpai kekahi me ka Nail-Patella syndrome, aia kahi pilikia o ka loaʻa ʻana o kahi maʻi i kapa ʻia ʻo "preeclampsia" i ka wā hāpai. Nānā nā kauka a hoʻoponopono i nā lāʻau lapaʻau e like me ka mea e pono ai i ka wā hāpai e hōʻemi i kēia pilikia.

Pehea e ʻike pono ʻia ai kēia maʻi?

E hana nā kauka i hoʻokahi a ʻoi aku paha o kēia mau hoʻokolohua e hōʻoia i kēia ʻano:

• Hoʻokolokolo kino : E nānā i nā mea e like me nā loli i nā kui a me nā loli o ka iwi.
• Nā hoʻokolohua kiʻi kūikawā : Hoʻohana ʻia nā X-ray, CT scans, a me MRI e nānā pono i nā iwi.
• Nā hoʻāʻo koko a me/a i ʻole mimi : E nānā i ke ʻano o ka hana ʻana o nā puʻupaʻa.
• ʻO ka biopsy puʻupaʻa : Lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo mai ka puʻupaʻa a nānā ʻia no nā loli ʻiʻo e pili ana i ka maʻi Nail-Patella.
• Hoʻāʻo genetic : Hoʻāʻo kēia no nā ʻano like ʻole o ka gene.

E kamaʻilio nā kauka me ʻoe a nīnau e pili ana i ka mōʻaukala olakino ʻohana o kāu keiki. No ka laʻana, e nīnau lākou inā ua loaʻa i kekahi o kou ʻohana ka maʻi Nail-Patella a i ʻole kekahi maʻi genetic ʻē aʻe. E kōkua kēia ʻike i ka hōʻoia ʻana. Hiki iā lākou ke paipai i ka hoʻāʻo genetic no ʻoe a i ʻole nā ​​​​lālā ʻē aʻe o ka ʻohana.

ʻIke pinepine ʻia nā hōʻailona o ka maʻi Nail-Patella i ka wā ʻōpiopio o ke ola. Eia nō naʻe, i kekahi poʻe, ʻaʻole hiki ke ʻike ʻia ke ʻano no nā makahiki, no ka mea he palupalu loa nā hōʻailona a i ʻole no ka mea ʻaʻole maopopo loa nā hōʻailona. Hiki i nā kauka ke ʻike i ke ʻano i nā keiki a me nā pākeke o nā makahiki āpau.

He aha ke ʻano o nā kauka e mālama i kaʻu keiki a nānā i ka maʻi?

Pono paha kāu keiki i kahi hui o nā kauka loea i nā ʻāpana o ke kino i hoʻopilikia ʻia e ka Nail-Patella Syndrome. Eia kekahi laʻana:

• Kōkua ke kauka orthopedist me nā pilikia o ka iwi.
• Nānā kekahi nephrologist i ka hana o nā puʻupaʻa o ke keiki.
• Mālama kekahi loea mālama maka i nā maka o ke keiki.

He aha nā lāʻau lapaʻau no ka nail-patella syndrome?

He maʻi ia no ke ola holoʻokoʻa ka Nail-Patella Syndrome. ʻAʻohe lāʻau lapaʻau no ia mea. Eia nō naʻe, aia nā lāʻau lapaʻau e loaʻa ana e kāohi i nā hōʻailona a hōʻemi i ka pilikia o nā pilikia.

Aia nā ʻano lapaʻau like ʻole no kēia, a ʻoi aku ma mua o hoʻokahi lapaʻau e pono ai ma muli o ke ʻano o ka hopena o ka maʻi i kāu keiki. E hoʻolālā nā kauka o kāu keiki i ka lapaʻau e pili ana i kā lākou mau pono. Hiki ke loli kēia mau pono i ka hala ʻana o ka manawa. ʻO kekahi o nā lāʻau lapaʻau e loaʻa paha:

• Hoʻoikaika kino e kōkua i nā pilikia neʻe.
• Nā lāʻau lapaʻau e kāohi i ka ʻeha o ka iwi a me nā ʻiʻo, ke koko, a i ʻole ke kaomi o nā maka.
• ʻO ke ʻoki kino e kāohi i nā ʻano ʻino o ka iwi, glaucoma, a i ʻole nā ​​maʻi puʻupaʻa koʻikoʻi (me ka hoʻoili ʻana i ka puʻupaʻa).

E wehewehe nā kauka o kāu keiki i nā pono a me nā pōʻino o kēlā me kēia lāʻau lapaʻau iā ʻoe. Hiki ke kaumaha ka mālama ʻana i ke kūlana genetic paʻakikī o kahi keiki. No laila, mai kānalua e nīnau a kaʻana like i kou mau hopohopo. Ma kēlā ala, hiki iā ʻoe ke hilinaʻi e pili ana i ka hoʻolālā lapaʻau o kāu keiki.

E hoʻopilikia anei kēia kūlana i ke ola o ke keiki?

ʻAʻole pinepine ka Nail-Patella Syndrome i ka manaʻolana ola o ke kanaka. Eia nō naʻe, inā ulu ka maʻi puʻupaʻa koʻikoʻi, hiki ke loli. Hiki i kēia pilikia ke hoʻopilikia i ka prognosis a me ka lōʻihi o ke ola o ke kanaka. Pono paha kekahi poʻe i kahi hoʻoili puʻupaʻa.

Hoʻopilikia iki nā maʻi genetic e like me ka Nail-Patella syndrome i kēlā me kēia keiki i kahi ʻano ʻokoʻa, no laila he paʻakikī ke ʻōlelo pololei i nā hōʻailona e loaʻa i kāu keiki a pehea ko lākou koʻikoʻi. E hiki i nā kauka o kāu keiki ke haʻi hou aku iā ʻoe e pili ana i kēia.

Hiki ke pale ʻia ka maʻi Nail-Patella?

ʻAʻohe ala i ʻike ʻia i kēia manawa e pale aku ai i kēia maʻi hoʻoilina. Inā loaʻa iā ʻoe a i ʻole kāu hoa ka Nail-Patella Syndrome, a ke hoʻolālā nei ʻoe e loaʻa kahi keiki, he manaʻo maikaʻi e kamaʻilio me kahi kākāʻōlelo hoʻoilina . Hiki iā lākou ke kōkua iā ʻoe e hoʻomaopopo i nā manawa kūpono e hoʻoilina ai kāu keiki i ka maʻi.

Āhea e pono ai i kaʻu keiki ke ʻike i ke kauka?

Pono paha kāu keiki i nā manawa lapaʻau pinepine me kekahi mau kauka like ʻole. E haʻi pololei aku ke kime lapaʻau o kāu keiki iā ʻoe i nā manawa e pono ai a me ka pinepine.

ʻO ka maʻamau, pono kāu keiki e nānā pinepine ʻia kēia mau mea:

• Nānā ʻana i ke koko.
• Nā hoʻāʻo mimi, me nā mea e ana i nā 'pae albumin-creatinine'.
• Nā nānā ʻana no ka glaucoma.
• Nā hoʻāʻo ʻana i ka nui o ka iwi.

Hiki i nā kauka ke kōkua iā ʻoe e wehewehe i ke koʻikoʻi o kēia mau hoʻokolohua i kāu keiki.

He mea nui hoʻi e makaʻala i ke olakino noʻonoʻo o kāu keiki - a me kou olakino ponoʻī. Hilahila paha kāu keiki i ko lākou helehelena, a i ʻole makemake paha lākou i ke kōkua e kūkulu i ko lākou hilinaʻi iā ia iho. E noʻonoʻo paha ʻoe i ka mea hiki iā ʻoe ke hana e kōkua iā lākou e ʻike i ko lākou maikaʻi loa.

E kamaʻilio me nā kauka o kāu keiki e pili ana i ka hoʻopili ʻana me nā hui kākoʻo, nā mea hoʻōla, a me nā limahana hana kaiaulu. ʻO ka loaʻa ʻana o kahi hui o nā mākua akamai a me nā loea olakino e kākoʻo ana i kou ʻohana hiki ke hana i kahi ʻokoʻa nui i kou ola o kēlā me kēia lā.

Pehea ka laha ʻole o ka nail-patella syndrome?

Ua manaʻo nā kānaka noiʻi e pili ana ka Nail-Patella Syndrome i hoʻokahi i loko o 50,000 mau kānaka. Eia nō naʻe, ʻoi aku ka maʻamau no ka mea ʻaʻole i ʻike ʻia ka poʻe me nā hōʻailona liʻiliʻi loa.

Aia kekahi mau inoa ʻē aʻe no kēia?

ʻO ka "maʻi ʻo Fong" kekahi inoa ʻē aʻe no ka Nail-Patella Syndrome. Ua hoʻohana pinepine ʻia kēia inoa i ka wā ma mua. I kēia lā, ua kapa ʻia e ka poʻe he Nail-Patella Syndrome.

ʻO kekahi inoa no ke kūlana like ʻo "hereditary onycho-osteodysplasia". E nānā kākou i ke ʻano o kēlā me kēia ʻāpana o kēia inoa:

• ʻO ke ʻano o ka "hoʻoilina" hiki ke ʻike ʻia i loko o nā ʻohana.
• ʻO ke ʻano o ka "ʻŌniko" he mau kui.
• ʻO ke ʻano o ka "Osteo" he iwi.
• ʻO ke ʻano o ka "Dysplasia" he ulu ʻana kūpono ʻole a i ʻole kahi kīnā i loko o kekahi ʻāpana o ke kino.

No laila, he aha nā mea nui e hoʻomanaʻo mai nā mea a mākou i kamaʻilio ai?

Ke loaʻa i kāu keiki kahi maʻi genetic no ke ola holoʻokoʻa e like me ka Nail-Patella Syndrome, hiki i nā mea ke lilo i mea kaumaha iki. Hopohopo paha ʻoe no ke olakino o kāu keiki, ko lākou wā e hiki mai ana. Ke noʻonoʻo nei paha ʻoe i kāu mea e pono ai mai iā lākou e kōkua iā lākou e ulu, holomua, a loaʻa i kahi ola hauʻoli. He ukana nui ia, akā ʻaʻole pono ʻoe e hāpai wale. E kamaʻilio me ka hui lapaʻau o kāu keiki e pili ana i nā ala e kākoʻo ai i nā pono o kāu keiki - a me kāu ponoʻī.

E hoʻomanaʻo, ʻo ka ʻike mua ʻana a me ka mālama pono ʻana i ka maʻi e kōkua nui i kāu keiki e ola i kahi ola maʻamau a olakino. Mai makaʻu a hopohopo paha. ʻO ka mea nui loa, ʻo ia ka mālama ʻana i kāu keiki me ke aloha a me ka hoʻomaopopo ʻana i ka wā e hahai ana i nā ʻōlelo aʻoaʻo lapaʻau.

ʻO ka Nail-Patella Syndrome, Nā Maʻi Hoʻoilina, Nā Kui, Kuli, Patella, Maʻi Pūpū, LMX1B, Maʻi Fong, Ola Kino o nā Keiki