Maʻi ʻo Krabbe

ʻO ka maʻi Krabbe kahi maʻi maʻi ʻōiwi laha ʻole o ka ʻōnaehana hopohopo. ʻO ia kahi ʻano maʻi maʻi lolo i kapa ʻia ʻo leukodystrophy.

He kīnā i ka GALC kumu ke kumu o ka maʻi Krabbe. ʻAʻole lawa ka waiwai o nā kānaka i kēia hemahema o ke ʻano (ʻākena) i kapa ʻia ʻo galactocerebroside beta-galactosidase (galactosylceramidase).

Pono ke kino i kēia enzyme e hana i ka myelin. Hoʻopuni a pale ʻo Myelin i nā olonā nerve. Me ka ʻole o kēia enzyme, haki ka myelin, make nā hunaola o ka lolo, a ʻaʻole holo pono nā aʻalolo i ka lolo a me nā wahi o ke kino.

Hiki i ka maʻi Krabbe ke ulu i nā makahiki like ʻole:

• ʻIke ʻia ka maʻi mua o Krabbe i nā mahina mua o ke ola. ʻO ka hapa nui o nā keiki me kēia ʻano maʻi e make ma mua o ka hiki ʻana i ka makahiki 2.
• Hoʻomaka ka lohi o ka hoʻomaka ʻana o ka maʻi Krabbe i ka wā ʻōpio a i ʻole ke ʻōpio.

Hoʻoilina ʻia ka maʻi ʻo Krabbe, ʻo ia hoʻi ua hoʻoili ʻia i loko o nā ʻohana. Inā lawe nā mākua ʻelua i kahi kope hana ʻole o ka ʻaoʻao e pili ana i kēia kūlana, loaʻa i kēlā me kēia o kā lāua keiki he 25% (1 i ka 4) manawa kūpono e ulu ai ka maʻi. He maʻi kūmau autosomal ia.

Kākaʻikahi loa kēia kūlana. ʻO ka mea maʻamau i waena o nā poʻe o ko Skandinavian moʻokūʻauhau.

ʻO nā ʻōuli o ka hoʻomaka mua ʻana o ka maʻi Krabbe:

• Ke hoʻololi nei i ke kani o ka mākala mai ka floppy a paʻakikī
• Lohe lohe e hiki ai i ke kuli
• Ka holomua ʻole ʻana
• Pilikia hānai
• Huhū a me ka ʻike i nā kani nui
• Ka hopu ʻana i ka maʻi (hoʻomaka paha i ka wā ʻōpio)
• Nā fiva i wehewehe ʻole ʻia
• Lilo ka hihiʻo e alakaʻi i ka makapō
• ʻO ka luaʻi

Me ka lohi o ka maʻi ʻo Krabbe, ʻike mua ʻia nā pilikia o ka hihi, a ukali ʻia e nā pilikia hele wāwae a me nā mākala paʻa. Hoʻololi nā ʻōuli i kēlā me kēia kanaka. E kū paha kekahi mau ʻōuli ʻē aʻe.

E hana ka mea mālama ola i kahi hoʻokolohua kino a nīnau e pili ana i nā ʻōuli.

ʻO nā hoʻāʻo e hana ʻia ana paha:

• Nānā ke koko e nānā no nā pae galactosylceramidase i nā hunaola keʻokeʻo
• ʻO ka CSF huina protein - hōʻoia i ka nui o nā protein i ka wai cerebrospinal (CSF)
• ʻO ka hoʻāʻo genetic no ka hemahema o ka ʻāpana GALC
• MRI o ke poʻo
• ʻO ka wikiwiki conduction nerve

ʻAʻohe mālama kūikawā no ka maʻi Krabbe.

Ua loaʻa i kekahi poʻe ka hoʻoneʻe iwi iwi i ka wā mua o ka maʻi, akā he pilikia ko kēia lāʻau.

Hiki i kēia mau kumuwaiwai ke hāʻawi i ka ʻike hou aku e pili ana i ka maʻi Krabbe:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/leukodystrophy-krabbes
• NIH Genetics Home Reference - ghr.nlm.nih.gov/condition/krabbe-disease
• ʻO United Leukodystrophy Foundation - www.ulf.org

Hune paha ka hopena. Ma ka awelika, ʻo nā kamaliʻi me ka maʻi mua o Krabbe e make ma mua o ka makahiki 2. ʻO nā poʻe e hoʻomohala i ka maʻi i ka wā ma hope ua ola i ka wā makua me ka maʻi ʻōnaehana.

Hoʻopōʻino kēia maʻi i ka ʻōnaehana waena. Hiki iā ia ke kumu:

• Makapō
• Kuli ke kuli
• Nā pilikia koʻikoʻi me ke kani o nā mākala

ʻO ka maʻi maʻamau ka hoʻoweliweli i ke ola.

Kāhea i kāu mea hāʻawi inā ulu kāu keiki i nā ʻōuli o kēia maʻi. E hele i ka lumi pilikia o ka haukapila a kāhea i kāu helu kūloko kūloko (e like me 911) inā loaʻa nā ʻōuli penei:

• Ka hopu ʻana i nā maʻi
• Ka nalowale o ka ʻike
• Hoʻouna kūlana maʻamau

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no ka poʻe me ka moʻolelo ʻohana o ka maʻi Krabbe e noʻonoʻo nei i ka loaʻa ʻana o nā keiki.

Hiki ke hana ʻia kahi hōʻoia koko e ʻike inā lawe ʻoe i ka ʻāpana no ka maʻi Krabbe.

Hiki ke hana ʻia nā hōʻike Prenatal (amniocentesis a i ʻole chorionic villus sampling) e hoʻāʻo ai i kahi pēpē e ulu ana no kēia ʻano.

Leukodystrophy pūnaewele paʻalima; Ka nele o Galactosylcerebrosidase; Ka nele o Galactosylceramidase

Grabowski GA, Burrow TA, 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.

Pastores GM, Wang RY. Nā maʻi mālama Lysosomal. I: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. ʻO Swaiman's Pediatric Neurology: Nā Kumuhana a me nā Hana. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2017: chap 41.