Loaʻa i kāu keiki kāne kēia mau pilikia? E kamaʻilio kākou e pili ana i ka Barth Syndrome!

He mea paʻakikī ke haʻi aku i nā manaʻo kaumaha a mākou e manaʻo nei ma ke ʻano he mau mākua i ka wā e maʻi ai kā mākou poʻe liʻiliʻi, ʻeā? ʻOiai inā he maʻi kakaʻikahi a paʻakikī hoʻi, e hoʻonui nui ʻia ka makaʻu i loko o ko mākou mau puʻuwai. I kēia lā e kamaʻilio mākou e pili ana i kēlā ʻano maʻi kakaʻikahi, akā he mea nui loa ia no nā mea a pau e makaʻala. Ua kapa ʻia kēia ʻo Barth Syndrome.

He aha ka Barth Syndrome? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, he maʻi laha ʻole ka maʻi Barth. ʻIke pinepine ʻia i nā keikikāne . Hiki i kēia maʻi ke hoʻopilikia i kekahi mau ʻāpana koʻikoʻi o ke kino o ke keiki. ʻO nā mea nui:

• ʻIwi iwi
• Puʻuwai
• ʻŌnaehana pale kino
• Nā ʻiʻo

E noʻonoʻo, ua like ko kākou kino me kahi mīkini paʻakikī me nā ʻāpana he nui e hana pū ana. No laila, ke hoʻopilikia ʻia kekahi mau wahi koʻikoʻi, hiki ke pilikia ka ulu maʻamau a me ke olakino o ke keiki ma nā ʻano like ʻole.

ʻAʻole anei e loaʻa i nā kaikamāhine ka Barth syndrome?

He pilikia kēia i loaʻa i nā kānaka he nui. ʻO ka ʻoiaʻiʻo, he haʻahaʻa loa ka manawa e loaʻa ai i kahi kaikamahine ka maʻi Barth. ʻO ka maʻamau, ʻo nā kaikamahine e lawe ana i ka hoʻololi ʻana o ka gene e hoʻoulu ai i ka maʻi ʻaʻole hōʻike i nā hōʻailona. Ua kapa ʻia lākou he "mea lawe." ʻO ke ʻano kēia ʻaʻole lākou i loaʻa i ka maʻi, akā hiki iā lākou ke hoʻoili i ka gene i kā lākou mau keiki. I nā huaʻōlelo ʻē aʻe, ʻoi aku ka nui o ka hiki i kahi keikikāne ke hoʻoilina i ka maʻi.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka maʻi Barth. Wahi a nā helu helu, ua hōʻike ʻia kēia maʻi ma kahi o hoʻokahi i loko o 300,000 mau keiki i hānau ʻia. No laila, ʻaʻole paha ʻoe e lohe nui e pili ana i ia mea. Akā, ʻoiai he mea laha ʻole ia, he mea nui loa ia e makaʻala iā ia.

He aha ke kumu o ka maʻi Barth?

ʻO ke kumu nui o kēia, he mutation ia i loko o ka gene i kapa ʻia ʻo Tafazzin (TAZ) . Aia kēia gene i kapa ʻia ʻo TAZ ma ka chromosome X. E like me kou ʻike, ʻo ka chromosome X kekahi mea e nui ai ka mana i ka ulu ʻana o ke kino.

ʻO kekahi o nā hana nui o ka gene TAZ, ʻo ia ke kuhikuhi i ka hana ʻana o kahi protein e pono ai nā mitochondria , nā mea kanu mana liʻiliʻi i loko o kā mākou mau cell e hana i ka ikehu. Pili pū kēia mau mitochondria i ka ulu ʻana o ka iwi.

No laila, i ka wā e loaʻa ai kahi mutation i loko o ka gene TAZ, ʻaʻole hana pono ka protein āna e hana ai. ʻO ke ʻano kēia, ʻaʻole lawa ka ikehu o ka mitochondria, a i ʻole "wahie," e hana ai. ʻO ka hopena, ʻaʻole hiki i nā ʻiʻo e pono ai ka ikehu hou aku - e like me ka puʻuwai, nā ʻiʻo, a me ka ʻōnaehana pale - ke hana pono. ʻO kēia ka wehewehe kumu olaola no ka maʻi Barth.

He aha nā hōʻailona o ka maʻi Barth?

Hiki ke ʻokoʻa nā hōʻailona o ka maʻi Barth mai kēlā kanaka a kēia kanaka. Eia kekahi, hiki ke ʻokoʻa ke koʻikoʻi o kēia mau hōʻailona. ʻO kekahi mau hōʻailona maʻamau:

• Nā pae kiʻekiʻe ma ke ʻano ʻē o ka 3-methylglutaconic aciduria, kahi waikawa organik, i loko o ka mimi.
• ʻO ka dilated cardiomyopathy kahi kūlana e hoʻonui ʻia ai nā keʻena haʻahaʻa o ka puʻuwai, ʻo ia hoʻi, nāwaliwali a kīkoʻo ka ʻiʻo o ka puʻuwai. Ua kapa nā kauka i kēia ʻo dilated cardiomyopathy .
• Nā maʻi bacteria pinepine. ʻO ke kumu o kēia he nāwaliwali o ka ʻōnaehana pale.
• Ka lohi o ka ulu ʻana : Hiki ke pōkole a emi ke kaumaha ma mua o nā keiki ʻē aʻe o ka makahiki like.
• Ka nāwaliwali o ka ʻiʻo puʻuwai. Ua kapa ʻia kēia he cardiomyopathy .
• ʻO ka emi ʻana o ka helu o nā neutrophils, kahi ʻano o ke koko keʻokeʻo, i loko o ke koko. Ua kapa ʻia kēia ʻano he neutropenia . ʻO kēia ka mea e ʻoi aku ai kou maʻalahi i nā maʻi.
• Nā papālina i ʻike nui ʻia.
• ʻAʻohe leo o nā ʻiʻo, kahi manaʻo o ka palupalu. Ua kapa ʻia kēia he hypotonia .
• Ka nāwaliwali o nā ʻiʻo iwi e kōkua iā mākou e hoʻoneʻe i ko mākou kino. Ua kapa ʻia kēia he skeletal myopathy .

Pehea ka wikiwiki o ka ʻike ʻia ʻana o kēia mau hōʻailona?

ʻO ka hapa nui o ka manawa, ʻike ʻia kēia mau hōʻailona i ka wā hānau . Eia nō naʻe, i kekahi mau keiki, hiki ke ʻike ʻia kēia mau hōʻailona i kekahi mau mahina ma hope o ka hānau ʻana. No laila, ma ke ʻano he mau mākua, pono mākou e hopohopo mau no ka ulu ʻana o kā mākou keiki a me ke olakino.

He aha nā pilikia e hiki ke loaʻa mai ka Barth syndrome?

Aia nā keiki me kēia maʻi i ka pilikia no nā ʻano pilikia like ʻole, e like me:

• Nā pilikia hānai a me ka ʻai ʻole .
• Ka maʻi pākī pinepine.
• ʻEha ke poʻo a me nā ʻeha kino.
• Haʻahaʻa ke kō koko, ʻo ia hoʻi , hypoglycemia .
• ʻO ka lahilahi a me ka nāwaliwali o nā iwi, ʻo ia hoʻi ka osteoporosis .
• Luhi nui ʻole, manaʻo luhi ( fatigue ).
• Nā pilikia aʻo iki, ʻoi aku hoʻi ma nā kumuhana e like me ka makemakika.
• ʻO ka loaʻa pinepine ʻana o nā ʻeha waha (canker sores).

ʻAʻole like kēia mau pilikia i nā kānaka a pau, akā, ʻo ka ʻike ʻana iā lākou e hiki ke kōkua iā ʻoe e hoʻomaka koke i ka mālama ʻana.

Pehea e ʻike ʻia ai ka maʻi Barth? (Diagnosis)

Inā ʻike mua ʻia nā hōʻailona mua o ka maʻi Barth, hiki ke hoʻomaka ka lāʻau lapaʻau no ke keiki i ka wā hikiwawe loa. Hiki i kēia ke kōkua i ka kaohi ʻana i ka holomua o nā hōʻailona a pale i nā pilikia.

Pono paha kekahi mau hoʻokolohua e hana i kahi hōʻailona pololei. Eia kekahi laʻana:

• He hoʻāʻo e pili ana i ka lawe ʻana i kahi ʻāpana liʻiliʻi o ka ʻiʻo puʻuwai a i ʻole nā ​​ʻiʻo ʻē aʻe. Ua kapa ʻia kēia he biopsy.ʻO kekahi i kapa ʻia ʻo kēia. Nānā kēia i nā hemahema i loko o ka mitochondria a me nā mea ʻē aʻe.
• Hoʻāʻo ʻia ka Echocardiogram e nānā i ka hana o ka puʻuwai.
• ʻO ka hoʻāʻo ʻana i ka genetic e hōʻoia i ka mutation genetic e hoʻoulu ai i ka maʻi Barth.
• Nā hoʻāʻo mimi e ʻike ai i nā pae kiʻekiʻe o nā waikawa organik i loko o ka mimi a me nā pae haʻahaʻa o nā pūnaewele ʻōnaehana pale (ʻoi aku ka neutrophils).

Pehea e ʻike ai inā pono kaʻu keiki e hoʻāʻo ʻia no ka Barth syndrome?

Inā loaʻa i kāu keiki nā hōʻailona o ka lohi o ka ulu ʻana a me nā hōʻailona e pili ana i ka nāwaliwali o nā ʻiʻo puʻuwai (cardiomyopathy) , a ʻaʻole hiki i nā kauka ke loaʻa kahi kumu maopopo, hiki iā lākou ke ʻōlelo aku i ka hoʻāʻo ʻana no ka maʻi Barth. Hiki i nā hōʻailona o ka cardiomyopathy ke komo pū me ka dizziness, ka puʻuwai kūpono ʻole ( arrhythmia ), a me ka lohe ʻana i kahi kani puʻuwai ʻē ( heart murmur ).

He aha nā lāʻau lapaʻau no ka Barth syndrome?

ʻO kēia ka pilikia nui loa i loaʻa i nā kānaka he nui. ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka maʻi Barth . Akā, mai hopohopo. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ke pale a me ka mālama ʻana i nā pilikia . Kōkua kēia i ka mālama ʻana i ke ʻano o ke ola o ke keiki i ka hiki. Pono paha ke keiki i ka mālama ʻana e like me:

• Nā lāʻau antibiotic no nā maʻi.
• Nā lāʻau lapaʻau e hoʻoulu ai i ka hana ʻana o nā hunaola koko keʻokeʻo.
• Nā lāʻau lapaʻau e kāohi i nā pilikia o ka puʻuwai. ʻO nā laʻana e komo pū me nā ACE inhibitors, diuretics, a me nā beta-blockers .
• ʻO ka hoʻoikaika kino a me ka hoʻoikaika hana e hoʻoponopono pono ai i nā pilikia o ka ulu ʻana o ke kino.
• I nā hihia o ka hāʻule nui o ka puʻuwai, pono paha kahi hoʻoili puʻuwai .

ʻO ka mea nui loa, ʻo ia ka hāʻawi ʻana i kēia mau lāʻau lapaʻau a pau e like me ke kūpono no kēlā me kēia keiki, ma muli o ka ʻōlelo aʻo a ke kauka.

He aha nā mea ʻē aʻe e pono ai e ʻike e pili ana i ka mālama ʻana i ka maʻi Barth?

He mea nui e hana i nā nānā mau ʻana e nānā i ke ʻano o ka pane ʻana o kāu keiki i ka lāʻau lapaʻau. Hiki ke loli nā pono mālama o kāu keiki i ka hala ʻana o ka manawa. ʻO kēia mau nānā mau ʻana e maʻalahi ai ka hoʻololi ʻana i ka lāʻau lapaʻau ma mua o ka puka ʻana o nā pilikia.

Hoʻokomo pū kēia mau hoʻokolohua i nā hoʻokolohua koko (nā hoʻokolohua lab) e nānā i ka hana o ka ʻōnaehana pale. Inā haʻahaʻa ka pae neutrophil, hiki ke hāʻawi ʻia nā antibiotics e pale aku i ka maʻi.

Hiki ke pale ʻia ka maʻi Barth?

He maʻi hoʻoilina ka maʻi Barth. ʻO ia hoʻi, ua hoʻoilina ʻia. No laila, e loaʻa i ke keiki me ka maʻi Barth ia mea no ke koena o ko lākou ola.

Eia nō naʻe, inā ʻoe e noʻonoʻo ana e hoʻomaka i kahi ʻohana, a inā ʻoe e kali ana i kahi keiki ʻē aʻe, a loaʻa i kekahi o kou ʻohana ka maʻi Barth (mōʻaukala ʻohana), hiki ke kōkua nui ka hoʻāʻo ʻana i ka genetic . Hiki i kēia hoʻāʻo ke haʻi iā ʻoe inā he mau mea lawe ʻoe a me kāu hoa i ka hoʻololi ʻana o ka gene TAZ. Inā he mea lawe ʻoe, hiki iā ʻoe ke hālāwai me kahi kākāʻōlelo genetic e kūkākūkā i nā manawa kūpono e loaʻa ai kahi keiki me ka maʻi Barth.

He aha ke kūlana o ke ola no kekahi kanaka me ka Barth syndrome?

I ka wā ma mua, ua pōkole loa ke ola o nā keiki me kēia maʻi. Ua make pinepine lākou i ka wā kamaliʻi ma muli o nā pilikia puʻuwai. Eia nō naʻe, me ka ʻike mua ʻana a me ka mālama pono ʻana, ke ola nei nā mea maʻi i kēia manawa no ka manawa lōʻihi . Me ka holomua o ka ʻepekema, nui ka poʻe e ola nei a hiki i ko lākou mau makahiki he 40, a i kekahi manawa ʻoi aku ka lōʻihi. Aia kekahi manaʻolana e ʻike ʻia nā lāʻau lapaʻau hou i ka wā e hiki mai ana.

He aha ke ʻano o ka noho ʻana me ka maʻi Barth?

Hiki i ka maʻi Barth ke hoʻopilikia i ka ulu ʻana o ke keiki. He nui nā keiki i hānau ʻia he liʻiliʻi a he pōkole paha ko lākou kino i ka wā makua.

Hiki i ka nāwaliwali o nā ʻiʻo a me nā pilikia ʻē aʻe ke hoʻopaneʻe i ka ulu ʻana o ke kino. No ka laʻana, hiki iā lākou ke paʻakikī i ke kolo ʻana, ka hele ʻana, a me ka mālama ʻana i ke kaulike. Hiki iā lākou ke luhi maʻalahi, ʻoiai ma hope o ka hana kino.

Eia nō naʻe, ʻaʻole pinepine ka maʻi Barth i ka naʻauao o ke keiki . Eia nō naʻe, aia paha he mau pilikia liʻiliʻi i ka hoʻoponopono ʻana i nā pilikia makemakika a i ʻole ka hoʻomaopopo ʻana i kekahi kumuhana. No laila, pono kēlā mau keiki i ka nānā kūikawā a me ke kākoʻo.

Pehea e hiki ai iaʻu ke kōkua i kaʻu keiki e hoʻokele i nā pilikia puʻuwai i hoʻokumu ʻia e ka Barth syndrome?

ʻO ka hahai ʻana i kahi nohona olakino hiki ke hōʻemi i ke kaumaha ma ka puʻuwai o ke keiki i kekahi ʻano.

• E hoʻolako i kahi meaʻai olakino .
• E hōʻemi i nā wai e like me ke kauoha a kāu kauka.
• E paipai i ka hana kino māmā . Eia nō naʻe, he mea nui hoʻi e hāʻawi iā lākou i ka manawa kūpono e hoʻomaha ai ma hope o ia mau hana. E noʻonoʻo i nā mea e like me ka hele wāwae pōkole a i ʻole ka pāʻani lohi.

ʻO ka mea hope loa, leka lawe i ka home

He maʻi hoʻoilina ka Barth Syndrome e hoʻopilikia ana i ka puʻuwai, ka ʻōnaehana pale, nā ʻiʻo, a me nā mea hou aku. Hoʻopilikia nui ia i nā keikikāne. Hiki ke ʻike ʻia nā hōʻailona i ka wā hānau a i ʻole ma hope koke iho. ʻOiai hiki i nā pilikia o ka puʻuwai ke hoʻopōkole i ke ola o nā keiki me Barth Syndrome, ʻaʻole kēia ka hihia.

ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia, hiki i ka ʻike mua ʻana a me ka mālama kūpono ke hōʻemi i ka pilikia o nā pilikia a hoʻonui i ka maikaʻi o ke ola.

No laila, inā kānalua ʻoe ua loaʻa i kāu keiki kēia mau hōʻailona, ​​​​mai hopohopo, a e ʻimi koke i ka ʻōlelo aʻo mai ke kauka kūpono. No ka mea, he waiwai kēlā me kēia kekona.

ʻO ka maʻi Barth, nā maʻi genetic, nā maʻi kamaliʻi, nā maʻi puʻuwai, ka ʻōnaehana pale, ka nāwaliwali o nā ʻiʻo, ka gene TAZ