Aia kekahi o kou ʻohana i loaʻa i ka maʻi Danon? E kamaʻilio kākou e pili ana i ia mea!

Ua lohe paha ʻoe i ka maʻi Danon? He mea hou paha kēia inoa iā ʻoe. He maʻi laha ʻole ia, he maʻi hoʻoilina i hoʻopilikia ʻole i nā kānaka he nui. Akā, he mea pono ke makaʻala no ka mea hiki ke hoʻopilikia i ka puʻuwai, nā ʻiʻo, nā maka, a me ka lolo. E kamaʻilio kākou e pili ana i kēia lā.

He aha ka maʻi Danon?

I ka ʻōlelo maʻalahi, he maʻi laha ʻole ka maʻi Danon i hiki ke hoʻoili ʻia ma o kā mākou mau genes mai kēlā hanauna a i kēia hanauna. Hiki iā ia ke hōʻino i nā ʻāpana like ʻole o ko mākou kino, ʻoiai ka puʻuwai, nā ʻiʻo, ka retina, a me ka lolo . Eia naʻe, ʻaʻole e ʻike nā kānaka a pau i nā hōʻailona like, ʻokoʻa ia mai kēlā kanaka a i kēia kanaka.

No kahi hui nui o nā maʻi i kapa ʻia ʻo 'Lysosomal Storage Disorders' (LSD) ka maʻi Danon. Aia ma mua o 50 mau ʻano maʻi ma lalo o kēia hui. E noʻonoʻo, i loko o ko kākou mau cell aia nā ʻāpana e like me nā hale hana liʻiliʻi i kapa ʻia ʻo 'lysosomes'. ʻO ka hana nui o kēia mau mea, ʻo ia ka wāwahi a hoʻomaʻemaʻe i nā mea pono ʻole a me nā ʻōpala i hana ʻia i loko o nā cell. Ua like ia me ka lawe ʻana i ka ʻōpala i loko o ko kākou hale.

No laila, ʻaʻole hiki i nā pūnaewele o ke kanaka me kēia 'Lysosomal Storage Disorder' ke hana pono i kēia hana. He aha ka mea e hana ʻia? Hoʻomaka kēlā mau mea makemake ʻole ʻia, nā mea ʻawahia, e hōʻiliʻili i loko o nā pūnaewele. I ka hala ʻana o ka manawa, hōʻino kēia mau mea ʻawahia i hōʻiliʻili ʻia i nā pūnaewele a, ma o lākou, nā kino. ʻO kēia ka mea e hana ʻia ma ka maʻi Danon.

He maʻi hoʻoilina kēia. ʻO ke ʻano kēia, ua hoʻoili pinepine ʻia mai nā mākua a i nā keiki. ʻOi aku ka nui o ka loaʻa ʻana o ka maʻi i nā keikikāne a ʻoi aku ka nui o nā hōʻailona koʻikoʻi ma mua o nā kaikamahine.

He aha nā hōʻailona o ka maʻi Danon?

ʻOiai ke ʻokoʻa nā hōʻailona o ka maʻi Danon mai kēlā kanaka a kēia kanaka, aia kekahi mau hōʻailona nui e ʻike ʻia:

• Cardiomyopathy: ʻO kēia ka hōʻailona mua e ʻike ʻia. Hiki iā ia ke komo pū me ka ʻeha o ka umauma a i ʻole ka paʻa, ka luhi, ka lele ʻana a i ʻole ke kuʻi ʻana i ka umauma. I kekahi manawa, hiki ke loaʻa ka pōkole o ka hanu a me ka pehu ʻana i nā wāwae.
• Nāwaliwali o nā ʻiʻo (Myopathy): E noʻonoʻo, he paʻakikī iā ʻoe ke noho ma kahi noho, e hele wāwae ana, a i ʻole ʻoe e manaʻo i ka nāwaliwali ma kou kua, ʻāʻī, poʻohiwi, lima o luna, a i ʻole nā ​​wāwae o luna. Inā he keiki ʻōpiopio ʻoe, e nalowale paha kou hoihoi i ka holo a me ka pāʻani ʻana, a i ʻole e paʻakikī paha iā ʻoe ke piʻi i nā alapiʻi. He mau hōʻailona kēia o ka nāwaliwali o nā ʻiʻo.
• Nā pilikia maka (Retinopathy): Hiki i kēia ke hana i ka ʻike maka pohihihi, nā maka lana, a i ʻole nā ​​kukui uila. Hiki i kēia ke paʻakikī i ka heluhelu ʻana a i ʻole ka nānā ʻana i ke TV.
• Nā kīnā noʻonoʻo: ʻOi aku ka maʻamau o kēia i nā keikikāne. ʻO nā pilikia pili i ke ʻano, e like me nā loli o ke ʻano ke puni nā poʻe ʻē aʻe, a me nā lohi maʻamau o ka ʻōlelo a i ʻole ka ʻōlelo. ʻOiai he mea kakaikahi loa, hiki ke loaʻa nā pilikia noʻonoʻo. ʻO nā hiʻohiʻona e pili ana i ka paʻakikī o ka noʻonoʻo ʻana i ka hana kula a me ka lohi o ke aʻo ʻana i nā mea hou.

Pehea e pili ai ke kāne a me ka wahine

I nā keikikāne, hoʻomaka pinepine nā hōʻailona e ʻike ʻia i ka wā ʻōpiopio, ʻo ia hoʻi, i ka wā kamaliʻi a i ʻole ka wā ʻōpio . A hiki i kēia mau hōʻailona ke holomua koke a lilo i mea koʻikoʻi.

Akā ke nānā ʻoe i nā kaikamahine, i kekahi manawa ʻaʻohe hōʻailona iki. A i ʻole, hiki ke ʻike ʻia nā hōʻailona i ka hopena o ka wā ʻōpio a i ʻole ka wā makua mua. ʻOi aku ka lohi o ka ulu ʻana o nā hōʻailona i nā kaikamahine, a pinepine ʻaʻole i ʻoi aku ka koʻikoʻi. Eia nō naʻe, he mea nui e hoʻomanaʻo i kekahi mau hihia hiki ke koʻikoʻi.

Nā ʻano o Cardiomyopathy

ʻElua mau ʻano nui o ka cardiomyopathy i ʻike ʻia ma ka maʻi Danon:

• ʻO Hypertrophic Cardiomyopathy: ʻO kēia ke ʻano maʻamau. I ka pōkole, he mānoanoa kūpono ʻole ia o ka ʻiʻo puʻuwai.
• Dilated Cardiomyopathy: ʻOi aku ka maʻamau o kēia i nā wahine. ʻO kēia kahi e hoʻonui ʻia ai nā keʻena o ka puʻuwai a nāwaliwali ka puʻuwai.

He aha nā kumu o ka maʻi Danon?

ʻO ke kumu nui o ka maʻi Danon, ʻo ia nā loli, a i ʻole nā ​​mutations, i loko o kahi gene kikoʻī i kapa ʻia ʻo `LAMP2`. E like me kou ʻike, ua hoʻomalu ʻia nā mea āpau i loko o ko mākou kino e nā genes. E like me ka polokalamu i loko o kahi kamepiula, kuhikuhi pū kēia mau genes i ka hana o ko mākou kino.

No laila, manaʻoʻiʻo nā kānaka noiʻi i ka wā e loli ai kēia gene 'LAMP2', aia kekahi pilikia me ka paia a i ʻole ka membrane o ka ʻāpana cell i kapa ʻia ʻo ka lysosome aʻu i ʻōlelo ai ma mua. Eia nō naʻe, ʻaʻohe maopopo 100 pakeneka o ke ʻano o ka hanana ʻana o kēia maʻi. Ke hoʻomau nei ka noiʻi ʻana i kēlā.

Pehea e ʻike ʻia ai ka maʻi Danon?

Inā ʻike ʻoe a i ʻole kāu kauka i nā hōʻailona o ka maʻi Danon, hiki iā lākou ke kānalua. A laila e nīnau kāu kauka iā ʻoe e pili ana i kāu mau hōʻailona. Eia kekahi, e hana lākou i kekahi mau hoʻokolohua e hōʻoia i ka maʻi Danon a kāpae i nā kūlana ʻē aʻe.

ʻO ke kumu nui, kōkua ka hoʻāʻo ʻana i ka DNA (hoʻāʻo genetic) i ka ʻike ʻana i kēia maʻi. Hiki i kēia ke hoʻoholo pololei inā he mutation i loko o ka gene `LAMP2`.

Ma muli o kāu mau hōʻailona, ​​​​hiki i kāu kauka ke paipai i nā hoʻokolohua hou aʻe. Eia kekahi laʻana:

• Nā hoʻāʻo koko (Hana Keʻena (koko)).
• He hoʻokolokolo maka.
• He ultrasound.
• Hoʻāʻo CT scan (computered tomography scan).
• Hoʻāʻo MRI (kiʻi resonance magnetic).
• ʻO ka biopsy ʻiʻo iwi ( lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo a nānā ʻia).

Aia kekahi mau hoʻāʻo puʻuwai kūikawā e ʻike ai i ka hana maikaʻi o ka puʻuwai:

• ʻO ka biopsy puʻuwai - ka biopsy puʻuwai (lawe ʻana i kahi ʻāpana liʻiliʻi o ka puʻuwai no ka hoʻokolokolo ʻana).
• MRI o ka puʻuwai.
• ʻO kahi hoʻāʻo ECG (Electrocardiogram - EKG) (e hoʻopaʻa ana i ka hana uila o ka puʻuwai).

He aha nā kūlana ʻē aʻe e like me ka maʻi Danon?

Aia kekahi mau maʻi e like iki paha ko lākou mau hōʻailona me ka maʻi Danon. No laila he mea nui ka loaʻa ʻana o kahi hōʻailona pololei. Eia kekahi mau maʻi i loaʻa nā hōʻailona like:

• ʻO ka maʻi mālama glycogen hānau (GSD) o ka puʻuwai.
• ʻO ka myopathy vacuolar autophagic pēpē.
• ʻO nā cardiomyopathies ʻē aʻe, no ka laʻana sarcomeric hypertrophic cardiomyopathy a i ʻole dilated cardiomyopathy.
• Ka maʻi Pompe.
• ʻO ka maʻi Wolff-Parkinson-White (WPW) - Hiki ke ʻike ʻia kēia me ka maʻi Danon i kekahi manawa.
• ʻO ka myopathy i hoʻopili ʻia me X me ka autophagy nui.

He mea paʻakikī paha kēia, akā noʻonoʻo nā kauka i kēia mau mea a pau a hiki i kahi hōʻoia pololei.

He aha nā lāʻau lapaʻau no ka maʻi Danon?

ʻO ka mālama ʻana no ka maʻi Danon e pili ana i kāu mau hōʻailona a me ko lākou koʻikoʻi. E hana pū kāu hui lapaʻau me ʻoe e hoʻomohala i kahi hoʻolālā lapaʻau kūpono loa iā ʻoe. Hiki i kēia ke komo pū me:

• Nā mea kōkua: No ka laʻana, nā maka aniani a i ʻole nā ​​mea kōkua ʻike ʻē aʻe, nā mea kōkua lohe, kahi mea hele wāwae, a i ʻole kahi noho huila.
• Psychotherapy - kamaʻilio lapaʻau a i ʻole ka ʻōlelo lapaʻau.
• Inā he mau pilikia aʻo, loaʻa ke kākoʻo hoʻonaʻauao.
• Hoʻoikaika kino e hoʻoikaika i nā ʻiʻo.

No nā pilikia o ka puʻuwai, hiki i kāu loea ke ʻōlelo i nā mea e like me:

• Hoʻohana ʻia ka implantable cardioverter defibrillator (ICD) e mālama i nā ʻano like ʻole o ka puʻuwai (arrhythmia).Inā lilo kēia i mea e lilo koke ai ka puʻuwai i mea kūpono ʻole, hiki ke hoʻoponopono ʻia.
• ʻO kahi monitor Holter e hoʻopaʻa i ka hana o kou puʻuwai i ka lā a pau.
• Nā lāʻau lapaʻau e kāohi i nā pilikia o ka puʻuwai, ʻoiai ka cardiomyopathy.
• Nā lāʻau lapaʻau e like me ka ablation therapy e mālama i nā mele puʻuwai kūpono ʻole.

Inā e ʻoi aku ka ʻino o ka cardiomyopathy, pono paha kahi hoʻoili puʻuwai . He mea nui ka ʻike mua a me ka mālama ʻana e pale aku i nā pilikia e hoʻoweliweli ana i ke ola e like me ka make koke ʻana o ka puʻuwai a me ka hāʻule mua ʻana o ka puʻuwai .

ʻO wai ka mea hiki ke komo i kaʻu hui lapaʻau?

I ka mālama ʻana i ka maʻi Danon, ʻaʻole lawa hoʻokahi kauka. Pono ia i kahi hui o nā loea. Hana pū kēia mau loea me kāu Luna Hoʻolako Mālama Ola Kino (PCP) e kōkua iā ʻoe. Hiki i kāu hui ke komo pū me:

• Kauka Puʻuwai: He loea i ka puʻuwai a me nā kīʻaha koko.
• Nā loea mālama maka / Kauka maka: No nā pilikia e pili ana i ka maka.
• He loea i ka genetics: He kanaka i loea i ka genetics.
• Neurologist: He kauka i loea i ka lolo, ke kaula kuamoʻo, a me nā aʻalolo.
• Akamai neuromuscular: He loea i nā ʻiʻo a me nā aʻalolo.

Ma muli o kou kūlana olakino a me nā hopena ʻaoʻao āu e ʻike ai, e nānā kēia hui lapaʻau i kāu mau lāʻau lapaʻau a me nā lāʻau lapaʻau a hana i nā hoʻololi e pono ai.

Hiki ke ho'ōla ʻia ka maʻi Danon?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Danon. Eia nō naʻe, hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i kāu mau hōʻailona a mālama i kou olakino a me ke ʻano o ke ola ma ke kiʻekiʻe loa. No laila, ʻo ka mea nui loa, ʻo ia ka hahai ʻana i ka ʻōlelo aʻo a kāu kauka me ka hopohopo ʻole.

He aha ka manaʻo no ka maʻi Danon?

ʻO ke kūlana no ka maʻi Danon, ʻo ia hoʻi, pehea e hoʻopilikia ai ka maʻi iā ʻoe, e pili ana i kekahi mau kumu. ʻO kēia mau mea e pili ana i kāu mau hōʻailona, ​​​​​​ke koʻikoʻi o lākou, a me ka wikiwiki o ka holomua ʻana o ka maʻi. Hiki i kāu kauka ke aʻo maikaʻi iā ʻoe i kou kūlana kikoʻī.

ʻO ka maʻi Danon a me ke ola

Ma ka awelika, ʻo ka lōʻihi o ke ola o nā kāne me ka maʻi Danon ma kahi o 19 mau makahiki, a ʻo ka lōʻihi o ke ola o nā wahine ma kahi o 34 mau makahiki. Pono ka nui o ka poʻe i kahi hoʻoili puʻuwai. He mea maʻamau ka makaʻu ke ʻike ʻoe i kēia mau helu. Akā e hoʻomanaʻo, he awelika wale nō kēia. He ʻokoʻa nā kānaka a pau.

E hana pū kāu hui lapaʻau me ʻoe e hoʻokele i kāu mau hōʻailona. E aʻo pū lākou iā ʻoe e pili ana i kahi e hiki ai iā ʻoe a me kou ʻohana ke loaʻa ke kākoʻo āu e pono ai.

Hiki iaʻu ke hōʻemi i ka pilikia o kaʻu keiki i ka loaʻa ʻana o ka maʻi Danon?

Hoʻokumu ʻia ka maʻi Danon e kahi hoʻololi genetic. No laila, ʻaʻohe mea hiki iā ʻoe ke hana e hōʻemi i ka pilikia o kāu keiki i ka loaʻa ʻana o ka maʻi. Inā loaʻa kekahi o kou ʻohana i ka maʻi Danon, he manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic prenatal, hiki ke hana ʻia i ka wā hāpai .

ʻO wai ka mea i ʻike mua i ka maʻi Danon?

Ua wehewehe mua ʻia ka maʻi i ka makahiki 1981 e ka loea neurologist ʻAmelika ʻo Maurice Danon, MD . Ua hōʻea ʻo ia i kēia mau hopena ma hope o ka nānā ʻana i ʻelua mau maʻi ʻōpio i loaʻa ke kīnā noʻonoʻo, nā puʻuwai i hoʻonui ʻia (cardiomegaly), a me ka nāwaliwali o nā ʻiʻo (proximal myopathy).

ʻO ka ʻike ʻana he maʻi genetic laha ʻole kou e like me kēia hiki ke paʻakikī loa a hoʻoluhi nui. I kou hoʻomaka ʻana e noho me kēia maʻi, e hoʻāʻo e lawe i kēlā me kēia lā. E kiʻi i ke kākoʻo mai kāu hui lapaʻau, nā hoaaloha, a me ka ʻohana. No ka mea he laha ʻole kēia maʻi, pono paha ʻoe e haʻi i nā poʻe ʻē aʻe e pili ana i ia mea. ʻOiai ma ka pūnaewele, hiki ke paʻakikī ke loaʻa i nā poʻe ʻē aʻe i loko o ke kūlana like. Eia nō naʻe, hiki iā ʻoe ke loaʻa ke kākoʻo i nā hui e hoʻohui pū ana i nā maʻi a me nā ʻohana me nā maʻi laha ʻole a i ʻole nā ​​maʻi puʻuwai.

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

He maʻi paʻakikī ka maʻi Danon. Eia nō naʻe, e hoʻomanaʻo i kēia mau mea:

• He maʻi hoʻoilina ka maʻi Danon. ʻAʻole ia i hana ʻia e ka hewa o kekahi.
• ʻAʻole like nā hōʻailona no kēlā me kēia kanaka. Aia nā ʻokoʻa ma waena o nā kāne a me nā wahine.
• He mea nui loa ka ʻike mua ʻana i ka maʻi a hoʻomaka i ka mālama ʻana. Hiki i kēia ke hōʻemi i nā pilikia.
• ʻOiai ʻaʻole hiki ke ho'ōla loa ʻia kēia maʻi, aia nā lāʻau lapaʻau e hiki ke kaohi i nā hōʻailona.
• ʻAʻole ʻoe hoʻokahi. Aia kahi hui akamai o nā kauka, ʻohana, a me nā hui kākoʻo e kōkua iā ʻoe.
• Hiki i ke aʻo ʻana i nā ʻano genetics ke lilo i mea nui loa no nā ʻohana.

Ma ka hahai ʻana i nā lāʻau lapaʻau i ʻōlelo ʻia e kāu mau kauka a ma lalo o kā lākou alakaʻi ʻana, hiki iā ʻoe ke ola i ke ola maikaʻi loa. Lana ko mākou manaʻo he kōkua kēia ʻike iā ʻoe.

`Maʻi Danon, maʻi Danon, maʻi hoʻoilina, maʻi puʻuwai, Cardiomyopathy, nāwaliwali o nā ʻiʻo, Lysosomal Storage Disorder, gene LAMP2