Lipofuscinoses Neuronal ceroid (NCL)

ʻO Neuronal ceroid lipofuscinoses (NCL) e pili ana i kahi hui o nā maʻi maʻamau o nā hunaola nerve. Ua hala ʻo NCL ma waena o nā ʻohana (hoʻoilina).

ʻO kēia nā ʻano nui ʻekolu o NCL:

• Makua (Kufs a i ʻole Parry maʻi)
• Juvenile (maʻi Batten)
• Late pēpē (Jansky-Bielschowsky maʻi)

Pili ʻo NCL i ke kūkulu ʻia ʻana o kahi mea kūpono ʻole i kapa ʻia lipofuscin i ka lolo. Manaʻo ʻia ʻo NCL ka hopena o nā pilikia me ka lolo e hiki ke hemo a hana hou i nā protein.

Ua hoʻoili ʻia nā Lipofuscinoses ma ke ʻano he autessomal recessive traits. Kuhi kēia i kēlā me kēia makua e hele i kahi kope hana ʻole o ka ʻaoʻao no ke keiki e hoʻomohala i ke ʻano.

Hoʻokahi wale nō subtype mākua o NCL i hoʻoilina ʻia ma ke ʻano autosomal domant.

ʻO nā ʻōuli o NCL me:

• Hoʻonui ka nui o ka muscle a i ʻole ka spasm
• Nā pilikia makapō a ʻike paha
• Dementia
• Ka nele o ka hoʻohui ʻana i nā mākala
• Kīnā ʻole o ka noʻonoʻo
• ʻAno hoʻoneʻe
• Lilo i ka ʻōlelo
  
• Ka hopu ʻana i nā maʻi
• Hele wāwae ʻaʻano ʻole

ʻIke ʻia ka maʻi maʻi i ka wā hānau, akā ʻike pinepine ʻia ma hope loa i ka wā kamaliʻi.

Loaʻa i nā hoʻāʻo:

• Autofluorescence (kahi ʻenehana māmā)
• EEG (ana i ka hana uila i ka lolo)
• ʻO ka microscopy uila o kahi ʻili biopsy
• Electroretinogram (kahi hoʻāʻo maka)
• Ke hoʻāʻo genetic
• MRI a i ʻole CT scans o ka lolo
• ʻO ka biopsy kope

ʻAʻohe mea ola no nā maʻi NCL. Pili ka mālama ʻana i ke ʻano o NCL a me ka nui o nā ʻōuli. Kauoha paha kāu mea mālama olakino i nā mea hoʻomaha musele e kāohi i ka huhū a me nā haunaele hiamoe. Kau ʻia nā lāʻau lapaʻau e kaohi i ka hopu ʻana a me ka hopohopo. Pono paha kahi kanaka me NCL i ke kōkua a me ka mālama ola holoʻokoʻa.

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

• Ka Pūnaewele ʻIke Genetic and Rare Diseases - rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
• Kākoʻo a me ka ʻimi noiʻi ʻo Batten Disease Association - bdsra.org

ʻO ke kaikaina ke hiki mai ka maʻi, ʻo ka nui o ka makaʻu no ke kīnā a me ka make mua. Hiki i nā mea hoʻomohala i ka maʻi ke loaʻa i nā pilikia o ka hihiʻo e holomua i ka makapō a me nā pilikia me ka hana noʻonoʻo e ʻoi aku ka maikaʻi. Inā hoʻomaka ka maʻi i ka makahiki mua o ke ola, make paha ka makahiki 10.

Inā kū ka maʻi i ka wā makua, e maʻalulu nā ʻōuli, me ka ʻole o ka ʻike maka a me ke ola maʻamau.

Hiki ke hana i kēia mau pilikia:

• Hōʻino pilikia a makapō paha (me nā ʻano hoʻomaka mua o ka maʻi)
• Ka hōʻino noʻonoʻo, mai ka lohi o ka ulu ulu ʻana i ka wā hānau a i ka dementia ma hope o ke ola
• ʻO nā mākala ʻoʻoleʻa (ma muli o nā pilikia koʻikoʻi me nā aʻalolo e kaohi i ka leo o nā mākala)

Hiki i ke kanaka ke hilinaʻi nui i nā poʻe ʻē aʻe no ke kōkua me nā hana o kēlā me kēia lā.

Kāhea i kāu mea hāʻawi inā hōʻike kāu keiki i nā ʻōuli o ka makapō a i ʻole ke kīnā ʻole o ka ʻike.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic inā he moʻolelo kaulana ko kou ʻohana o NCL. Loaʻa paha nā hōʻike Prenatal, a i ʻole kahi hōʻike i kapa ʻia he preimplantation genetic diagnosis (PGD), e pili ana i ka ʻano o nā maʻi. I ka PGD, ua hoʻāʻo ʻia kahi embryo no nā mea kūpono ʻole ma mua o ka hoʻokomo ʻia ʻana i ka ʻōpū o ka wahine.

Lipofuscinoses; Maʻi maʻi Batten; Jansky-Bielschowsky; Maʻi Kufs; Spielmeyer-Vogt; Maʻi Haltia-Santavuori; ʻO ka maʻi ʻo Hagberg-Santavuori

ʻO Elitt CM, Volpe JJ. Nā maʻi Degenerative o ka hānau hou. I: Volpe JJ, Inder TE, Darras BT, et al, eds. ʻO Volpe's Neurology o ke keiki hānau. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2018: chap 29.

ʻO Glykys J, Sims KB. ʻO nā maʻi neuronal ceroid lipofuscinosis maʻi. I: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. ʻO Swaiman's Pediatric Neurology: Nā Kumuhana a me nā Hana. ʻElua huaʻōlelo Elsevier; 2017: chap 48.

Grabowski GA, Burrow AT, Leslie ND, Prada CE. Nā maʻi mālama Lysosomal. I: Orkin SH, Fisher DE, Ginsburg D, Nānā MA, Lux SE, Nathan DG, eds. ʻO Hematology a Nathan a me Oski a me Oncology o ke kamaliʻi a me ke kamaliʻi. 8th ed. Piladelapia, PA: Elsevier Saunders; 2015: chap 25.