Adrenoleukodystrophy

Hōʻike ʻo Adrenoleukodystrophy i kekahi mau maʻi e pili pono ana e hoʻopilikia i ka haki ʻana o kekahi mau momona. Hoʻohui pinepine ʻia kēia mau maʻi (hoʻoilina) i loko o nā ʻohana.

Hoʻohau pinepine ʻia ʻo Adrenoleukodystrophy mai ka makua a ke keiki ma ke ʻano he moʻokūʻauhau X-pili. Hoʻopili ia i ka nui o nā kāne. Hiki i kekahi mau wahine hāpai i nā ʻano milder o ka maʻi. Hoʻopili ia ma kahi o 1 i 20,000 mau kānaka mai nā lāhui āpau.

ʻO ke hopena ke hopena o ke kūkulu ʻia ʻana o nā lālani momona lōʻihi paʻa loa i loko o ka ʻōnaehana hopohopo, ka adrenal gland, a me nā testes. Hoʻopilikia kēia i ka hana maʻamau i kēia mau ʻāpana o ke kino.

ʻEkolu ʻano nui o ka maʻi.

• ʻO ke ʻano cerebral Childhood - ʻike ʻia i waenakonu o ke kamaliʻi (ma nā makahiki 4 a 8)
• Adrenomyelopathy - hiki i nā kāne i ko lākou 20 a i ʻole ma hope o ke ola
• Hoʻopilikia ka hana adrenal gland (i kapa ʻia ʻo Addison maʻi a i ʻole Addotype-like phenotype) - ʻaʻole hana ka adrenal gland i nā hormona steroid

ʻO nā ʻōuli o ke ʻano cerebral ʻano kamaliʻi e like me:

• Hoʻololi i ka leo o ka mākala, ʻoi aku hoʻi i nā spasms o ka mākala a me nā neʻe ʻole i kāohi ʻia
• Nā maka i kau ʻia
• Kākau lima e ʻoi aku ana ka hewa
• Ka paʻakikī ma ke kula
• Ka ʻike paʻakikī ʻana i ka mea a ka poʻe e ʻōlelo nei
• Lohe hoʻolohe
• Hyperactivity
• ʻO ka hōʻino ʻōnaehana ʻōnaehana ʻoi aku ka maikaʻi, e like me ke koma, hoʻemi i ka mana o ka motika maikaʻi, a me ka maʻi lōlō
• Ka hopu ʻana i nā maʻi
• Hoʻopau i nā pilikia
• Hōʻino ʻike maka a makapō paha

ʻO nā hōʻailona Adrenomyelopathy me:

• ʻO ka paʻakikī ke kaohi ʻana i ka urination
• Hiki ke hoʻonāwaliwali i ka nāwaliwali o nā mākala a i ʻole ka ʻoʻoleʻa o ka wāwae
• Nā pilikia me ka wikiwiki noʻonoʻo a me ka hoʻomanaʻo hoʻomanaʻo

Hōʻailona Adrenal gland (ʻano Addison) nā:

• Koma
• Hoʻoemi i ka makemake
• Hoʻonui ʻia ke kala o ka ʻili
• Ka lilo o ke kaupaona a me ka nui o nā mākala (ʻōpala)
• Nāwaliwali ka ʻiʻo
• ʻO ka luaʻi

ʻO nā hōʻoia no kēia ʻano:

• Nā pae koko o nā kaulahao momona lōʻihi a me nā hormoni e hana ʻia e ka adrenal gland
• Ke aʻo Chromosome e nānā i nā loli (hoʻololi) i ka ABCD1 ʻāpana
• MRI o ke poʻo
• ʻ biiwi lāʻau

Hiki ke mālama ʻia ka hana adrenal me nā steroid (e like me ka cortisol) inā ʻaʻole lawa ka nui o nā hormona i ka adrenal gland.

ʻAʻole loaʻa kahi lapaʻau kūikawā no ka adrenoleukodystrophy pili iā X. Hiki i kahi transplant pūpū iwi ke hōʻemi i ka maʻi o ka maʻi.

Kākoʻo ka mālama ʻana a me ka nānā pono ʻana i ka hana adrenal gland i hoʻopilikia ʻia e kōkua ai i ka hoʻomaikaʻi ʻana i ka hōʻoluʻolu a me ka maikaʻi o ke ola.

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻike hou aku ma adrenoleukodystrophy:

• National Organization for Rare Disease Disorder - rarediseases.org/rare-diseases/adrenoleukodystrophy
• NIH / NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

ʻO ke ʻano kamaliʻi o X-pili adrenoleukodystrophy kahi maʻi holomua. Ke alakaʻi nei ia i kahi koma lōʻihi (vegetative state) ma kahi o 2 mau makahiki ma hope o ka hoʻomohala ʻana o nā ʻōnaehana ʻōnaehana. Hiki i ke keiki ke noho i kēia ʻano no 10 mau makahiki a hiki i ka make ʻana.

ʻO nā ʻano ʻē aʻe o kēia maʻi ʻoi aku ka māmā.

Hiki ke hana i kēia mau pilikia:

• Pilikia adrenal
• Moku'āina Vegetative

Kāhea i kāu kahu mālama ola inā:

• Hoʻokumu kāu keiki i nā ʻōuli o ka adrenoleukodystrophy pili iā X
• Loaʻa i kāu keiki ka adrenoleukodystrophy pili X a ke hele nei a ʻinoʻino

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no nā kāne me ka moʻolelo ʻohana o adrenoleukodystrophy pili X. Loaʻa i nā makuahine o nā keiki kāne i hoʻopilikia ʻia 85% ka manawa kūpono o ka lawe ʻana no kēia ʻano.

Loaʻa ka ʻike prenatal o ka adrenoleukodystrophy pili iā X. Hana ʻia ia e ka hoʻāʻo ʻana i nā hunaola mai ka chorionic villus sampling a i ʻole amniocentesis. Nānā kēia mau hoʻāʻo no kekahi ʻano loli ʻike ʻia i loko o ka ʻohana a i ʻole no nā pae waikawa momona lōʻihi lōʻihi.

Adrenoleukodystrophy pili iā X; Adrenomyeloneuropathy; ʻŌpiopio cerebral adrenoleukodystrophy; ALD; ʻO Schilder-Addison Complex

• Adrenoleukodystrophy neonatal

ʻO James WD, Berger TG, Elston DM. Nā hemahema i ka metabolism. I: James WD, Berger TG, Elston DM, hua. Nā maʻi o Andrews 'o ka ʻili: Dermatology Haumāna. 12th ed. Piladelapia, PA: Elsevier; 2016: chap 26.

Lissauer T, Carroll W. Nā maʻi Neurological. I: Lissauer T, Carroll W, eds. ʻO ka puke kākau moʻolelo no Paediatrics. 5th lā. Piladelapia, PA: Elsevier; 2018: chap 29.

Stanley CA, Bennett MJ. Nā kīnā i ka metabolism o lipids. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 104.

ʻO Vanderver A, ʻo Wolf NI. Nā maʻi genetic a me nā metabolic o ka mea keʻokeʻo. I: Swaiman KF, Ashwal S, Ferriero, et al, eds. ʻO Swaiman's Pediatric Neurology. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2017: chap 99.