Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) ndimatenda amtundu omwe amakhudza mitsempha, minofu, ziwalo zina, ndi machitidwe. Pang'ono ndi pang'ono kumawonjezeka pakapita nthawi.

MLD nthawi zambiri imayamba chifukwa cha kusowa kwa michere yofunikira yotchedwa arylsulfatase A (ARSA). Chifukwa chakuti enzyme imeneyi imasowa, mankhwala otchedwa sulfatides amakula mthupi ndikuwononga dongosolo lamanjenje, impso, ndulu, ndi ziwalo zina. Makamaka, mankhwalawo amawononga zotumphukira zoteteza zomwe zimazungulira ma cell amitsempha.

Matendawa amapatsira kudzera m'mabanja (obadwa nawo). Muyenera kupeza mtundu wa cholakwika kuchokera kwa makolo anu onse kuti mukhale ndi matendawa. Makolo amatha kukhala ndi jini losalongosoka, koma alibe MLD. Munthu yemwe ali ndi jini imodzi yolakwika amatchedwa "wonyamula."

Ana omwe amalandira cholowa chimodzi chokha cholakwika kuchokera kwa kholo limodzi amakhala wonyamula, koma nthawi zambiri samakhala ndi MLD. Onyamula awiri akakhala ndi mwana, pali mwayi 1 mwa 4 kuti mwanayo atenge majini onse ndikukhala ndi MLD.

Pali mitundu itatu ya MLD. Maofesiwa amatengera pomwe zizindikilozo zimayamba:

• Zizindikiro zakumapeto kwa khanda la MLD nthawi zambiri zimayamba ndi zaka 1 mpaka 2.
• Zizindikiro za achinyamata MLD nthawi zambiri zimayamba pakati pa 4 ndi 12.
• Zizindikiro za achikulire (komanso omwe atha msinkhu MLD) zitha kuchitika pakati pa zaka 14 mpaka kukhala wamkulu (wopitilira zaka 16), koma zimatha kuyamba mpaka zaka 40 kapena 50.

Zizindikiro za MLD zitha kukhala izi:

• Kutulutsa modzikweza kapena kutsika kwa minyewa, kapena kuyenda kosafunikira kwamtundu uliwonse, zomwe zingayambitse kuyenda kapena kugwa pafupipafupi
• Mavuto amikhalidwe, kusintha kwa umunthu, kukwiya
• Kuchepetsa ntchito kwamaganizidwe
• Zovuta kumeza
• Kulephera kuchita ntchito zabwinobwino
• Kusadziletsa
• Kusachita bwino kusukulu
• Kugwidwa
• Mavuto olankhula, osalankhula

Wothandizira zaumoyo adzayesa thupi, moyang'ana zizindikiritso zamanjenje.

Mayeso omwe angachitike ndi awa:

• Magazi kapena chikhalidwe cha khungu kuti ayang'ane otsika arylsulfatase A zochitika
• Kuyezetsa magazi kuti muyang'ane otsika a arylsulfatase A ma enzyme
• Kuyeza kwa DNA kwa mtundu wa ARSA
• MRI yaubongo
• Mitsempha yamitsempha
• Kafukufuku wosonyeza mitsempha
• Kupenda kwamadzi

Palibe mankhwala a MLD. Chisamaliro chimayang'ana kwambiri pochiza zizindikirazo ndikusunga moyo wamunthuyo ndi mankhwala athupi komanso pantchito.

Kuika mafuta m'mafupa kungaganiziridwe za MLD wakhanda.

Kafukufuku akuphunzira njira zosinthira ma enzyme omwe akusowa (arylsulfatase A).

Maguluwa atha kupereka zambiri pa MLD:

• National Organisation for Rare Disways --rarediseases.org/rare-diseases/metachromatic-leukodystrophy
• Buku Lofotokozera za NLM Genetics - ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
• Mgwirizano wa United Leukodystrophy - www.ulf.org

MLD ndi matenda oopsa omwe amakula kwambiri pakapita nthawi. Pamapeto pake, anthu amataya minofu ndi malingaliro. Nthawi ya moyo imasiyanasiyana, kutengera zaka zomwe matendawa adayamba, koma maphunzirowa nthawi zambiri amakhala zaka 3 mpaka 20 kapena kupitilira apo.

Anthu omwe ali ndi vutoli amayembekezeka kukhala ndi moyo wawufupi kuposa moyo wamba. M'zaka zoyambirira matendawa atapezeka, matendawa amafulumira.

Upangiri wa chibadwa umalimbikitsidwa ngati muli ndi banja lomwe lidakumana ndi vutoli.

MLD; Kulephera kwa Arylsulfatase A; Leukodystrophy - metachromatic; Kuperewera kwa ARSA

• Central dongosolo lamanjenje ndi zotumphukira zamanjenje

Kwon JM. Matenda a Neurodegenerative aubwana. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 617.

Turnpenny PD, Ellard S, Cleaver R. Zolakwa zakubadwa zama metabolism. Mu: Turnpenny PD, Ellard S, Cleaver R, olemba. Zinthu za Emery za Medical Genetics ndi Genomics. Wolemba 16. Philadelphia, PA: Elsevier; 2022: mutu 18.