Leukodystrophy Metachromatic

ʻO ka leukodystrophy Metachromatic (MLD) kahi maʻi kūlohelohe e hoʻopili i nā aʻalolo, nā mākala, nā mea ʻē aʻe, a me ka lawena. Hele a mānoanoa i ka hala ʻana o ka manawa.

Hoʻokumu pinepine ʻia ʻo MLD e ka nele o kahi enzyme nui i kapa ʻia ʻo arylsulfatase A (ARSA). Ma muli o ka nalowale ʻana o kēia enzyme, kūkulu nā kemika i kapa ʻia ʻo sulfatides i loko o ke kino a hōʻino i ka ʻōnaehana, nā puʻupaʻa, ka hue, a me nā mea ʻē aʻe. Ma kahi kikoʻī, hoʻopōʻino nā kemikū i nā pale pale e hoʻopuni ana i nā hunaola nerve.

Hoʻoholo ʻia ka maʻi i loko o nā ʻohana (hoʻoilina). Pono ʻoe e kiʻi i kahi kope o ka ʻāpana hemahema mai nā mākua ʻelua e loaʻa ka maʻi. Hiki i nā mākua ke loaʻa i kēlā me kēia ʻāpana hemahema, akā ʻaʻohe MLD. ʻO ke kanaka me hoʻokahi ʻāpana hemahema i kapa ʻia he "lawe."

ʻO nā keiki i hoʻoilina i hoʻokahi ʻāpana hemahema wale nō mai hoʻokahi makua he lawe lākou, akā ʻaʻole maʻamau e hoʻomohala iā MLD. Ke loaʻa kahi keiki i ʻelua mau mea lawe, aia kahi 1 i ka 4 manawa e loaʻa i ke keiki nā ʻelua ʻelua a loaʻa iā MLD.

ʻEkolu ʻano o ka MLD. Hoʻokumu ʻia nā ʻano i ka wā e hoʻomaka ai nā ʻōuli.

• Hoʻomaka ka hoʻomaka o nā ʻōuli MLD pēpē pinepine e nā makahiki 1 a 2.
• Hoʻomaka ka hoʻomaka ʻana o nā ʻōuli MLD ʻōpio ma waena o nā makahiki 4 a me 12.
• Hiki ke ʻike ʻia nā ʻōuli (a ʻo MLD) ʻōpio ma waena o nā makahiki 14 a me nā mākua (ma mua o 16 mau makahiki), akā hoʻomaka paha i ka hala o 40 a 50 paha.

Pākuʻi ʻia paha nā ʻōuli o MLD i kekahi o kēia mau mea:

• Kiʻekiʻena Abnormally kiʻekiʻe a hoʻemi ʻia ke kani o nā mākala, a i ʻole neʻe i nā mākala maʻamau, ʻo kekahi o ia mau mea ke kumu o ka hele ʻana a i ʻole hāʻule pinepine
• Nā pilikia o ka lawena, nā loli o ke ʻano, ka huhū
• Hoʻoemi i ka hana noʻonoʻo
• Pilikia i ka ale ʻana
• ʻAʻole hiki ke hana i nā hana maʻamau
• Hoʻomau ʻole
• Hana maikaʻi ʻole ma ke kula
• Ka hopu ʻana i nā maʻi
• Pilikia haʻi ʻōlelo, lohi

E hana ka mea mālama ola i kahi hoʻokolohua kino, e kia ana i nā ʻōnaehana ʻōnaehana.

ʻO nā hoʻāʻo e hana ʻia ana paha:

• ʻO ka moʻomeheu koko a ʻili paha e nānā no ka arylsulfatase haʻahaʻa He hana
• E hoʻāʻo i ke koko e nānā no ka pae haʻahaʻa arylsulfatase A pae enzyme
• Ke hoʻāʻo nei ʻo DNA no ka ʻāpana ARSA
• MRI o ka lolo
• ʻO ka biopsy nerve
• Nā aʻo hōʻailona nerve
• Urinalysis

ʻAʻohe mea ola no MLD. Mālama ka mālama i ka mālama ʻana i nā ʻōuli a me ka mālama ʻana i ke ola o ke kanaka me ke ʻano hoʻoikaika kino a me ka ʻoihana hana.

Hiki ke noʻonoʻo ʻia ka hoʻoneʻe ʻōiwi no MLD pēpē.

Ke aʻo nei ka noiʻi i nā ala e pani ai i ka enzyme nalo (arylsulfatase A).

Hiki i kēia mau pūʻulu ke hāʻawi i ka ʻike hou aku ma MLD:

• National Organization for Rare Disorder --rarediseases.org/rare-diseases/metachromatic-leukodystrophy
• NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
• ʻO United Leukodystrophy Association - www.ulf.org

He maʻi nui ʻo MLD e ʻoi aku ana ka maikaʻi ma mua o ka manawa. ʻO ka hopena, lilo ka poʻe i nā hana muscle a me ka noʻonoʻo āpau. Hoʻololi ka lōʻihi o ke ola, kaukaʻi ʻia i ka makahiki hea i hoʻomaka ai ke ʻano, akā holo pinepine ka papa maʻi 3 a 20 mau makahiki a ʻoi.

Manaʻo ʻia ka poʻe me kēia maʻi ʻoi aku ka pōkole o ka lōʻihi o ke ola. ʻO ka makahiki ma mua i ka hōʻoia ʻana, ʻo ka wikiwiki ka holomua o ka maʻi.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic inā he moʻolelo ʻohana kāu no kēia maʻi.

MLD; Arylsulfatase He hemahema; Leukodystrophy - metachromatic; Ka nele o ARSA

• ʻŌnaehana ʻōnaehana waena a me ka ʻōnaehana ʻōnaehana peripheral

Kwon JM. Nā maʻi Neurodegenerative o ka wā kamaliʻi. 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 617.

Turnpenny PD, Ellard S, Cleaver R. Inborn hewa o ka metabolism. I: Turnpenny PD, Ellard S, Cleaver R, eds. Nā Emehana o Emery o nā Genetics Lapaʻau a me nā Genomics. 16th ed. Piladelapia, PA: Elsevier; 2022: chap 18.