Ke pilikia nei ʻoe me kou mau puʻupaʻa? E kamaʻilio kākou e pili ana i ka Fanconi Syndrome!

Ke makewai nui nei ʻoe i nā manawa a pau? A inā he keiki liʻiliʻi, ua ʻike anei ʻoe i ka ʻeha ma ko lākou kino a me nā iwi nāwaliwali? I kekahi manawa, ma hope o kēia mau hōʻailona, ​​aia paha kahi maʻi i lohe ʻole ʻia e mākou, akā he mea nui loa ia e ʻike. ʻO kekahi o ia ʻano maʻi ʻo Fanconi Syndrome. I kēia lā, e kamaʻilio maʻalahi mākou e pili ana i kēia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka Fanconi Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Fanconi kahi maʻi e kū mai ana i ka wā e hana pono ʻole ai kahi ʻōnaehana palupalu loa o nā kahawai i loko o ko mākou mau puʻupaʻa, ʻo ia hoʻi nā tubules proximal . I kēia manawa e noʻonoʻo i kēia ʻano: ua like ko mākou mau puʻupaʻa me kahi ʻōnaehana kānana super i loko o ko mākou kino. Kānana lākou i ke koko a wehe i nā huahana ʻōpala e like me ka mimi. Hoʻopili hou lākou i nā meaʻai koʻikoʻi, e like me nā electrolytes a me ka glucose.

Eia nō naʻe, i loko o nā puʻupaʻa o kekahi me ka maʻi Fanconi, ʻaʻole hana pono kēia mau mea i kapa ʻia ʻo proximal tubules. ʻO ka mea e hana ʻia ana, ʻaʻole i hoʻopili hou ʻia nā mea e pono ai ke kino i loko o ke kino a ua hoʻokuʻu ʻia i loko o ka mimi. I nā huaʻōlelo ʻē aʻe, ua hoʻonele ʻia nā mea waiwai.

Ma waena o nā mea nui i hoʻokuʻu ʻia mai ke kino ma kēia ʻano, aia kēia mau mea nui:

• ʻO ka phosphorus
• Kulukose
• Potasiuma
• Pāpaʻakai
• ʻAkika urika
• Nā waikawa amino

Pono kēia mau mea no aneane kēlā me kēia kaʻina hana i loko o ko kākou kino. No laila, ke pau kēia mau mea, hoʻomaka nā pilikia e kū mai.

ʻO wai ka mea hiki ke hoʻomohala i ka Fanconi syndrome?

He maʻi kēia e hiki ke hoʻopilikia maoli i kekahi. ʻElua ala nui e hiki ai ke loaʻa.

1. ʻO ka Fanconi Syndrome i hoʻoilina ʻia: He ʻano hoʻoilina kēia, ʻo ia hoʻi, ua hoʻoilina ʻia mai ka makuahine a i ʻole ka makuakāne.

2. Loaʻa ʻo Fanconi Syndrome: Hiki ke loaʻa kēia ʻano ma kekahi manawa o ke ola, no nā kumu ʻē aʻe.

He aha nā hōʻailona o ka Fanconi syndrome?

Hiki ke ʻokoʻa iki nā hōʻailona ma muli o ka mea he congenital a i ʻole i loaʻa.

Nā hōʻailona o ka maʻi Fanconi hānau ʻia:

• Ka mimi pinepine ʻana: Ke kahe ʻana o ka mimi ma mua o ka maʻamau.
• Dehydration: Ka nele o ka wai i loko o ke kino.
• Makewai mau (Polydipsia): Manaʻo ʻoe ʻaʻole lawa ka wai me ka nui o kāu inu ʻana.
• ʻEha iwi: E ʻike paha ʻoe i ka ʻeha ma kou kino, ʻoiai ma kou mau iwi.
• Ka nāwaliwali o nā ʻiʻo.
• Nā iwi nāwaliwali: Hiki i nā iwi ke palupalu a haki maʻalahi.
• Haʻihaʻi iwi: ʻOiai ʻo ka hāʻule iki ʻana hiki ke kumu o ka haki ʻana o ka iwi.
• Kino liʻiliʻi: ʻOi aku kou pōkole ma mua o nā poʻe ʻē aʻe o ka makahiki like.

Nā hōʻailona ma hope o ka maʻi Fanconi:

• Ka nāwaliwali o nā ʻiʻo.
• Nā pae phosphate haʻahaʻa i loko o ke koko (Hypophosphatemia): Hiki i kēia ke hana i nā pilikia iwi.
• Nā pae potassium haʻahaʻa o ke koko (Hypokalemia): Hiki i kēia ke hoʻopilikia i ka helu o ka puʻuwai.
• ʻO ka Hyperaminoaciduria ka nui o nā waikawa amino i loko o ka mimi.
• Hoʻonui ʻia ka acidity i loko o ke kino (Metabolic acidosis): Hiki i kēia ke hana i ka luhi a me ka paʻakikī o ka hanu ʻana.
• Ka mimi pinepine ʻana.
• Ka maloʻo ʻana o ka wai.
• Ka makewai mau.

I kēia manawa hiki iā ʻoe ke ʻike he like kekahi o kēia mau hōʻailona, ​​no laila ʻoi aku ka maikaʻi o ka ʻimi ʻana i ka ʻōlelo aʻoaʻo lapaʻau e ʻike pono ai i ka mea e hana nei.

He aha ke kumu o ka maʻi Fanconi?

Nui paha nā kumu. E māhele kākou iā lākou i ʻelua ʻāpana.

ʻO nā kumu o ka maʻi Fanconi hānau:

ʻO kēia mau maʻamau he mau kūlana hoʻoilina.

• Cystinosis: Hana ʻia kēia e ka hōʻiliʻili ʻana o ka waikawa amino cystine i loko o ke kino. Hiki iā ia ke hoʻopilikia i nā ʻāpana he nui o ke kino, me nā puʻupaʻa, nā maka, nā ʻiʻo, ka puʻuwai, a me ka lolo. ʻO ia ke kumu nui o ka maʻi Fanconi hānau.
• ʻO ka maʻi Lowe: He ʻano maʻi laha ʻole kēia e pili ana i ka chromosome X. Hoʻopilikia ia i nā maka, nā puʻupaʻa, a me ka lolo. ʻIke pinepine ʻia nā hōʻailona i ka wā hānau.
• ʻO ka maʻi Wilson: Ma kēia ʻano, ʻaʻole hiki i ke kino ke wehe pono i ke keleawe. Ke hōʻiliʻili ke keleawe, hiki iā ia ke hōʻino i ke ake, ka lolo, nā puʻupaʻa, a me nā maka.
• ʻO ka hoʻomanawanui ʻole i ka fructose i hoʻoilina ʻia: Hoʻokumu ʻia kēia e ka nele o ka enzyme Aldolase B, kahi e hoʻohaʻahaʻa ai i ke kō koko (hypoglycemia) i ka wā e ʻai ana i ke kō hua (fructose) a me ka sucrose, hiki ke hoʻopilikia i ke akepaʻa.
• Maʻi niho: He maʻi puʻupaʻa laha ʻole kēia. Hiki iā ia ke hana i ka protein i loko o ka mimi, ka hoʻonui ʻia o ka calcium i loko o ka mimi, nā waihona calcium i loko o nā tubules puʻupaʻa (Nephrocalcinosis), nā pōhaku puʻupaʻa, a ma hope ka hāʻule ʻana o ka puʻupaʻa (Maʻi puʻupaʻa maʻi). Loaʻa pinepine ia i nā kāne.
• Glycogenosis: He ʻano maʻi hoʻoilina kēia i hoʻokumu ʻia e kahi kīnā i loko o kahi protein i kapa ʻia ʻo GLUT2, ka mea e lawe ana i ka glucose. Ua kapa ʻia hoʻi ʻo ia ʻo Fanconi Bickel syndrome.
• ʻO ka tyrosinemia hoʻoilina ʻano I: He kīnā kēia i ka metabolism o ka amino acid tyrosine, hiki ke hoʻopilikia i ke ake, nā aʻalolo, a me nā puʻupaʻa, e alakaʻi ana i ka maʻi Fanconi.

Nā kumu o ka maʻi Fanconi ma hope o ka hoʻomaka ʻana:

• ʻO kekahi mau lāʻau lapaʻau:Hiki ke hiki mai kēia ʻano ma ke ʻano he hopena ʻaoʻao o kekahi mau lāʻau lapaʻau, e like me nā antibiotics, nā lāʻau HIV/AIDS, a me nā lāʻau chemotherapy, hiki ke hōʻino i nā puʻupaʻa.
• Hoʻoili puʻupaʻa: Hiki ke hana kēia ma muli o nā lāʻau lapaʻau i hoʻohana ʻia ma hope o ka hoʻoili puʻupaʻa, ka hōʻino ʻana i ka puʻupaʻa i ka wā o ke ʻoki ʻana, a i ʻole ka hōʻole ʻana i ka puʻupaʻa i hoʻoili ʻia.
• ʻO ka myeloma lehulehu: He maʻi ʻaʻai kēia o nā cell plasma i loko o ke koko. Hiki i kahi protein ʻano ʻē i hana ʻia e kēia mau cell ke hoʻopilikia i nā puʻupaʻa, e hana ana i ka maʻi Fanconi.
• AL amyloidosis (amyloidosis mua): I kēia hihia, lilo kahi protein i loko o nā pūnaewele plasma i mea ʻē a hoʻopilikia i kekahi mau ʻōkana, me nā puʻupaʻa.
• ʻO ka light chain proximal tubulopathy (LCPT): Ma kēia ʻano, waiho ʻia nā protein maʻamau ʻole i loko o nā puʻupaʻa.
• ʻAʻai make kēpau: ʻO ka nui o ka hoʻopili ʻana i ke kēpau kekahi kumu. Hiki i nā pena kahiko, kekahi mau pila, a me kekahi mau lāʻau lapaʻau kuʻuna ke loaʻa pū kekahi kēpau, no laila e makaʻala.
• Ka ʻike ʻia ʻana o ka Toluene: He kemika ka Toluene i loaʻa i loko o nā gums, nā pena, a me nā wai hoʻomaʻemaʻe metala. ʻO ka hanu ʻana i kēia mau mea (e.g., ka gum honi) hiki ke hana i ka Fanconi syndrome.
• Kekahi mau lāʻau lapaʻau: Ua ʻike ʻia kekahi mau lāʻau lapaʻau i loaʻa ka waikawa aristolochic e pili ana i kēia. No laila, ʻaʻole kūpono ke hoʻohana ʻana i ia mau mea me ka ʻole o ka ʻōlelo aʻoaʻo lapaʻau.

He aha nā lāʻau lapaʻau kūikawā e hoʻoulu ai i ka Fanconi syndrome?

Ma keʻano laulā, ua ʻike ʻia kēia mau ʻano lāʻau lapaʻau e ʻoi aku ka nui o ke kumu o ka maʻi Fanconi:

• ʻO Cisplatin `(Cisplatin)`
• ʻIfosfamide
• ʻO Tenofovir `(Tenofovir)`
• ʻAkika Valproic `(ʻAkika Valproic)`
• Nā lāʻau lapaʻau aminoglycoside, e like me Gentamicin
• ʻO Deferasirox `(ʻO Deferasirox)`

ʻAʻole e loaʻa i nā kānaka a pau e hoʻohana ana i kēia lāʻau lapaʻau kēia, akā aia kekahi pilikia. No laila, inā kuhikuhi ke kauka i kēia lāʻau lapaʻau, e nānā lākou iā ʻoe.

He maʻi laha anei ka maʻi Fanconi?

ʻAʻole. ʻAʻole kēia he maʻi lele. ʻAʻole ia e laha mai kekahi kanaka a i kekahi kanaka ma o ka launa pū ʻana.

Pehea e ʻike ʻia ai ka maʻi Fanconi?

E nīnau ke kauka iā ʻoe e pili ana i kāu mau hōʻailona a me nā lāʻau lapaʻau āu e lawe nei. A laila e hana lākou i kahi hoʻokolokolo kino. Hiki iā lākou ke hana i kekahi mau hoʻokolohua e hōʻoia i ka hōʻailona. Hiki ke kuhikuhi ʻia ʻoe i kahi kauka loea i nā maʻi puʻupaʻa (Nephrologist).

He aha nā hoʻokolohua e hana ʻia nei no kēia?

ʻO ka mea nui, hana ʻia nā hoʻāʻo mimi a me ke koko.

• Nā hoʻāʻo mimi / Urinalysis:E lawe lākou i kahi hāpana mimi mai ou aku a nānā inā he kiʻekiʻe nā pae o nā mea e like me ka glucose, nā waikawa amino, a me ka phosphate. Inā kiʻekiʻe kēia mau mea, he hōʻailona ia o ka maʻi Fanconi.
• Nā hoʻāʻo koko: Nānā pū nā hoʻāʻo koko no nā pae haʻahaʻa o ka phosphate, bicarbonate, a me ka potassium. ʻO nā pae haʻahaʻa o kēia mau mea he hōʻailona nō hoʻi ia o kēia maʻi.

Hana ke kauka i ka hōʻailona ma muli o ka ʻike i loaʻa mai kēia mau hoʻokolohua.

Hiki ke ho'ōla ʻia ka maʻi Fanconi?

Pili kēia i ke kumu o ka maʻi.

• He mea paʻakikī ke ho'ōla loa i nā kūlana genetic e hoʻoulu ai i ka Fanconi syndrome . Eia nō naʻe, hiki i nā hoʻololi ʻana i ka meaʻai a me ka mālama ʻana ke kōkua i ka kaohi ʻana i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola.
• Inā ʻike ʻia ke kumu o ka maʻi Fanconi a mālama ʻia, hiki i nā puʻupaʻa ke hoʻōla i kekahi manawa. Eia naʻe, ʻaʻole i hōʻoia mau ʻia kēia. Eia nō naʻe, hiki ke mālama ʻia nā hōʻailona a hiki ke kaupalena ʻia ka hōʻino ʻana i nā puʻupaʻa, nā ʻiʻo, a me nā iwi.

Pehea e mālama ʻia ai ka maʻi Fanconi?

ʻOkoʻa nō hoʻi ke ʻano o ka mālama ʻana ma muli o ke kumu a me ke koʻikoʻi o ka maʻi.

1. Ke mālama ʻana i ke kumu kumu: E mālama mua ke kauka i ke kūlana kumu i hoʻoulu ai i ka maʻi Fanconi. No ka laʻana, inā i hoʻokumu ʻia e kahi lāʻau lapaʻau, hiki ke hoʻōki ʻia ka lāʻau lapaʻau a i ʻole e hoʻemi ʻia ka nui.

2. Hoʻopiha hou ʻia: Hoʻopiha hou ʻia ke kino me nā meaola koʻikoʻi (electrolytes, fluids) i nalowale ma o ka mimi. Hiki ke hana ʻia kēia ma o nā hoʻololi ʻana i ka meaʻai, nā mea hoʻohui waha, a i ʻole nā ​​infusions intravenous (IV).

3. Ke kāohi ʻana i ka acidity o ke kino (Metabolic acidosis): No ka mea, ua ʻike ka poʻe he nui i kēia kūlana, hiki ke hāʻawi ʻia nā mea e like me ka sodium bicarbonate e hoʻihoʻi i ka waiwai pH o ke koko (pH scale).

4. No ka poʻe me nā pae phosphate haʻahaʻa: ʻOiai ʻo ka pae phosphate haʻahaʻa e hoʻonāwaliwali i nā iwi, hiki ke hāʻawi ʻia nā mea hoʻohui phosphate a me ka wikamina D.

5. Nā meaʻai kūikawā no nā maʻi hānau ʻia: Inā hānau ʻia kahi keiki me ka Fanconi syndrome, pono paha lākou i kahi meaʻai i hoʻomākaukau kūikawā ʻia. No ka laʻana, pono paha lākou e kaupalena i nā meaʻai i loaʻa ka fructose, galactose, a i ʻole tyrosine. Aia kēia i ke kūlana genetic ma lalo.

ʻO ka mea nui loa, ʻo ia ka hahai ʻana i nā kuhikuhi a ke kauka. Inā ʻoe e hoʻāʻo e hana i nā mea ma kāu iho, e ʻoi aku paha ka ʻino o ke kūlana.

Pehea ka wikiwiki o koʻu ho'ōla ʻana ma hope o ka lāʻau lapaʻau?

Hiki ke ʻokoʻa nui kēia ma muli o ke kumu. ʻO kekahi mau hihia o ka maʻi Fanconi e ulu ana ma hope aku e hoʻopau paha i loko o kekahi mau lā a i ʻole mau pule. Eia nō naʻe, hiki i kekahi mau kūlana hānau a me nā kūlana ma hope aku ke lōʻihi. No laila, he mea nui e hoʻomanawanui a lawe i ka lāʻau lapaʻau.

Hiki ke pale ʻia ka maʻi Fanconi?

ʻAʻohe mea hiki iā mākou ke hana e pale aku i nā kūlana genetic i loaʻa i ka wā hānau. Eia nō naʻe, aia kekahi mau mea hiki iā mākou ke hana e pale aku iā mākou iho mai ka hoʻomohala ʻana i ka maʻi Fanconi ma hope :

• E pale i ka pili ʻana i ke kēpau. Hiki ke loaʻa ke kēpau i loko o ka pena hale kahiko, kekahi mau mea pāʻani, a me nā paipu wai kēpau.
• E kamaʻilio me ke kauka ma mua o ka hoʻohana ʻana i nā mea kanu a i ʻole nā ​​​​mea hoʻohui ʻē aʻe. Hiki i kekahi o lākou ke hōʻino i nā puʻupaʻa.
• E kamaʻilio me kāu kauka e pili ana i nā pilikia o kekahi mau lāʻau lapaʻau (e like me nā antibiotics, nā lāʻau anticancer) āna e kuhikuhi ai. Inā pono ka lāʻau lapaʻau, e mālama pū ke kauka i kou mau puʻupaʻa.

He aha kāu e manaʻo ai inā loaʻa iā ʻoe ka Fanconi syndrome?

I kēia lā, ʻike nui nā kauka a me nā mea noiʻi e pili ana i ka maʻi Fanconi a pehea e mālama ai. Ua ʻae nā lāʻau lapaʻau hou i nā poʻe he nui e ola i nā ola maʻamau.

• ʻO ka maʻi Fanconi hānau: ʻIke pinepine ʻia nā hōʻailona i ka wā kamaliʻi. Inā loaʻa kēia i ka cystinosis, loaʻa paha i ke keiki nā pilikia me ka ulu ʻana a me ka piʻi ʻana o ke kaumaha. Hiki ke hana koke ʻia ka hāʻule ʻana o nā puʻupaʻa. Hiki ke hoʻopilikia ʻia nā ʻōpū ʻē aʻe, e like me nā maka, ke akepaʻa, a me nā iwi.
• ʻO ka maʻi Fanconi ma hope: Ke ʻike ʻia ke kumu a mālama ʻia, hiki ke hoʻōla ʻia nā puʻupaʻa. Eia nō naʻe, i kekahi manawa hiki ke mau loa ka hōʻino ʻana i nā puʻupaʻa.

ʻEhia ka lōʻihi e hiki ai iā ʻoe ke ola me ka Fanconi syndrome?

ʻAʻole hiki ke ʻōlelo pololei i ka lōʻihi o kēia. Inā ʻoe e hana e like me ka mālama kūpono a me ka hoʻolālā lapaʻau, hiki iā ʻoe ke ola i kahi ola maʻamau. Eia nō naʻe, inā hāʻule nā ​​​​pūnaʻau, hiki ke hoʻemi ʻia ke ola. I nā hihia o nā maʻi hānau, ʻokoʻa ke ola ma muli o ke ʻano o ka maʻi genetic.

Pehea wau e mālama ai iaʻu iho?

E hoʻomohala kāu kauka i kahi hoʻolālā lapaʻau kūpono iā ʻoe. Hiki i kēia ke komo pū me ka lawe ʻana i nā mea hoʻohui, ka hoʻololi ʻana i ka meaʻai, a me ka hoʻololi ʻana i ke ʻano o ka nohona. He mea nui e hahai pololei i nā ʻōlelo a kāu kauka. E hōʻoia e loaʻa iā ʻoe kāu mau nānā ʻana i ka manawa kūpono a lawe i kāu mau lāʻau lapaʻau e like me ke kauoha.

Āhea wau e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe nā hōʻailona o ka maʻi Fanconi, a i ʻole kekahi o nā kūlana a mākou i kūkākūkā ai e hiki ai ke kumu, e ʻike koke i ke kauka. ʻOi aku ka maʻalahi o ka mālama ʻana i ka ʻike mua ʻana a hiki ke hōʻemi i nā pilikia.

He aha nā nīnau āu e nīnau ai i ke kauka?

• Pehea e ʻike ai inā loaʻa iaʻu ka Fanconi syndrome?
• He aha ke ʻano o nā hoʻokolohua e hana ʻia no ka ʻike ʻana i kēia?
• He mea anei ia i hānau ʻia mai iaʻu a i ʻole he mea paha ia i ulu aʻe ma hope mai?
• He aha ke kumu o koʻu maʻi Fanconi?
• E ʻike anei au i kahi loea?
• He aha nā meaʻai hou aʻe e pono iaʻu e lawe?
• He aha koʻu pilikia o ka hāʻule ʻana o ka puʻupaʻa?
• E pono anei iaʻu kahi hoʻoili puʻupaʻa?
• Pono anei au e hana i nā hoʻokolohua genetic?
• ʻEhia pinepine e pono ai iaʻu ke hele mai e nānā i koʻu kūlana?
• Aia kekahi mau hui kākoʻo no ka poʻe me ka Fanconi syndrome?

He aha ka ʻokoʻa ma waena o ka Fanconi Syndrome a me ka Fanconi Anemia?

He mea kēia e huikau ai ka poʻe he nui. ʻO ka maʻi Fanconi a me ka anemia Fanconi he ʻelua mau kūlana ʻokoʻa loa.

• ʻO ka maʻi Fanconi kahi pilikia kahi i hiki ʻole ai i nā puʻupaʻa ke hoʻopili hou i nā mea e pono ai ke kino.
• He maʻi laha ʻole ka anemia Fanconi , he maʻi hoʻoilina e hoʻopilikia ana i ka iwi iwi. I kēia kūlana, ʻaʻole hiki i ka iwi iwi ke hana i nā hunaola koko olakino. Hoʻonui pū ia i ka pilikia o ka loaʻa ʻana o ka leukemia a me nā ʻano maʻi ʻē aʻe.

No laila, hiki iā ʻoe ke ʻike i ke ʻano like ʻole o kēia mau mea ʻelua.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He maʻi laha ʻole ka Fanconi Syndrome e hoʻopilikia ana i nā puʻupaʻa, akā he mea nui e makaʻala i ia mea. Hoʻolilo ia i ke kino i ka nalowale o nā meaʻai koʻikoʻi ma o ka mimi. Hiki ke loaʻa i ka wā hānau a i ʻole e ulu aʻe ma hope o ke ola no nā kumu ʻē aʻe.

Hiki paha iā ʻoe ke makaʻu a hopohopo ke lohe ʻoe e pili ana i kēia maʻi. Eia nō naʻe, me nā lāʻau lapaʻau holomua o kēia wā, hiki i nā poʻe he nui ke ola maʻamau. Inā he mau nīnau kāu e pili ana i kēia, e kamaʻilio me ke kauka. Hiki iā ia ke pane i kāu mau nīnau, e kuhikuhi iā ʻoe i kahi loea inā pono, a i ʻole e hāʻawi i ka ʻike e pili ana i nā hui kākoʻo. Mai hopohopo, a e hahai i nā ʻōlelo aʻoaʻo lapaʻau kūpono.

ʻO ka Fanconi Syndrome, ka maʻi puʻupaʻa, nā maʻi genetic, nā electrolytes, nā maʻi mimi, ke olakino o ke keiki, nā hopena ʻaoʻao o ka lāʻau lapaʻau