ʻO dysautonomia ʻohana

ʻO ka dysautonomia ʻohana (FD) kahi maʻi hoʻoilina e pili ana i nā aʻalolo ma ke kino.

Hoʻoholo ʻia ʻo FD e nā ʻohana (hoʻoilina). Pono i kahi kanaka ke hoʻoili i kahi kope o ka ʻāpana hemahema mai kēlā me kēia makua e hoʻomohala i ke ʻano.

Kū pinepine ʻo FD i nā poʻe kūpuna Iudaio ʻEulopa Hikina (Ashkenazi Iudaio). Hoʻokumu ʻia ia e kahi hoʻololi (hoʻololi) i kahi ʻāpana. He kākaʻikahi wale ia i ka lehulehu.

Hoʻopili ka FD i nā aʻalolo i loko o ka ʻōnaehana ʻōnaehana autonomic (hana ʻole). Mālama kēia mau aʻalolo i nā hana o ke kino i kēlā me kēia lā e like me ke kahe o ke koko, ka helu o ka puʻuwai, ka sweating, ka ʻōpū a me ka hoʻoneʻe ʻana i ka ʻai, digestion, a me nā manaʻo.

Aia nā ʻōuli o FD i ka wā hānau a ulu hewa paha i ka manawa. Kūlike nā ʻōuli, a hiki ke hoʻopili ʻia:

• ʻO ka ale ʻana i nā pilikia i loko o nā pēpē, e hopena ana i ka pneumonia aspiration a i ʻole ulu maikaʻi ʻole
• Mākala paʻa hanu, hopena i ka maʻule
• Ka paʻa paʻa a i ʻole ka palahī
• ʻAʻole hiki ke ʻeha a me nā loli i ka mahana (hiki i nā ʻeha)
• ʻO nā maka maloʻo a me ka nele o ka waimaka ke uē
• Hoʻohui maikaʻi ʻole a me ka hele wāwae paʻa ʻole
• Ka hopu ʻana i nā maʻi
• Maʻalahi ʻole, ʻāwī lelo pale a me ka ʻole o nā ʻono a hoʻoliʻiliʻi i ke ʻano o ka ʻono

Ma hope o 3 mau makahiki, hoʻomohala ka hapanui o nā keiki i nā pilikia kūʻokoʻa. ʻO kēia nā mahele o ka luaʻi me ke koko kiʻekiʻe loa, ka puʻuwai heihei, ke kuni, a me ka hou.

E hana ka mea mālama ola i kahi hoʻokolohua kino e nānā no:

• Loaʻa ʻole a hoʻemi ʻia paha nā reflexes tendon hohonu
• Ka nele o ka pane ma hope o ka loaʻa ʻana o kahi histamine injection (maʻamau ka ʻula a me ka pehu ʻana)
• Ka nele o ka waimaka me ka uē
• ʻO ke kani haʻahaʻa o ka mākala, ʻo ka pinepine i nā pēpē
• ʻVinglika nui o ka iwi kuamoʻo (scoliosis)
• Nā haumāna liʻiliʻi ma hope o ka loaʻa ʻana o kekahi mau kulu maka

Loaʻa nā hoʻāʻo ʻana i ke koko e nānā no ka hoʻololi ʻana o ka ʻaoʻao e kumu iā FD.

ʻAʻole hiki ke hoʻōla ʻia ʻo FD. Hoʻolālā ʻia ka mālama ʻana i ka mālama ʻana i nā ʻōuli a komo pū paha:

• ʻO nā lāʻau e kōkua ai i ka pale ʻana i ke kau ʻana
• E hānai ana i kahi kū i luna a hāʻawi i nā haʻina textured e pale ai i ka reflux gastroesophage (acid acid a me ka meaʻai e hoʻi mai ana, i kapa ʻia ʻo GERD)
• Nā ana e pale ai i ke kahe o ke koko i ke kū ʻana, e like me ka hoʻonui ʻana i ka lawe o ka wai, ka paʻakai, a me ka caffeine, a me ke kau ʻana i nā lāʻau palu
• Nā lāʻau e kāohi ai i ka luaʻi
• Nā lāʻau lapaʻau e pale ai i nā maka maloʻo
• Hoʻoikaika kino o ka umauma
• Nā hana e pale ai i ka ʻeha
• Hāʻawi i ka lawa pono o ka meaʻai a me nā wai
• ʻO ke kaha a me ka fusion spinal e mālama i nā pilikia o ka iwi kuamoʻo
• ʻO ka mālama ʻana i ka pneumonia aspiration

Hiki i kēia mau hui ke hāʻawi i ke kākoʻo a me ka ʻike hou aku:

• National Organization for Rare Disorder - rarediseases.org
• NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/familial-dysautonomia

ʻO ka holomua i ka hōʻoia ʻana a me ka mālama ʻana e hoʻonui ana i ka helu ola. Ma kahi o ka hapalua o nā pēpē i hānau ʻia me FD e ola ana i ka makahiki 30.

Kāhea i kāu mea hāʻawi inā hoʻololi a hōʻeha paha nā ʻōuli. Hiki i ke kākā'ōlelo genetic ke kōkua i ke aʻo ʻana iā ʻoe e pili ana i ke ʻano a kuhikuhi iā ʻoe e kākoʻo i nā hui i kou wahi.

Kūpono loa ka hoʻāʻo DNA genetic no FD. Hoʻohana ʻia paha ia no ka hōʻoia ʻana i ka poʻe me ke ʻano a i ʻole nā ​​mea e hāpai i ka ʻāpana. Hiki nō ke hoʻohana no ka ʻike prenatal.

ʻO ka poʻe o ka Hikina ʻEulopa Iudaio kāʻei kua a me nā ʻohana me ka mōʻaukala o FD makemake paha e ʻimi i nā ʻōlelo kūpuna inā lākou e noʻonoʻo nei i ka hānau keiki.

Riley-Day maʻi pale; FD; ʻO ka neuropathy sensory a me ka autonomic neuropathy - ʻano III (HSAN III); Nā pilikia kū kaʻawale - dysautonomia ʻohana

• ʻO Chromosome a me DNA

Katirji B. Nā maʻi o nā aʻa ākea. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier; 2016: chap 107.

ʻO Sarnat HB. Nā neuropathies kū kaʻawale. I: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 20 ouk. Piladelapia, PA: Elsevier; 2016: chap 615.

ʻO Wapner RJ, Dugoff L. Palapala Prenatal o nā maʻi kūlohelohe. I: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. ʻO Medicine a Maternal-Fetal a Creasy a me Resnik: Nā Manaʻo a me ka Hoʻomeheu. 8th ed. Piladelapia, PA: Elsevier; 2019: chap 32.