Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) ke bokuli bo amang methapo, mesifa, litho tse ling le boits'oaro. Butle-butle e mpefala ha nako e ntse e tsamaea.

MLD hangata e bakoa ke ho haella ha enzyme ea bohlokoa e bitsoang arylsulfatase A (ARSA). Hobane enzyme ena ha e eo, lik'hemik'hale tse bitsoang sulfatide lia ikamahanya 'meleng' me li senya tsamaiso ea methapo, liphio, gallbladder le litho tse ling. Haholo-holo, lik'hemik'hale li senya masaka a sireletsang a potileng lisele tsa methapo.

Lefu lena le fetisoa ka malapa (a futsitsoeng). U tlameha ho fumana phatsa ea lefutso e sa sebetseng ho batsoali ba hao ka bobeli ho ba le lefu lena. Batsoali ba ka ba le lefutso le sa sebetseng, empa ba se na MLD. Motho ea nang le lefutso le le leng le nang le sekoli o bitsoa "mojari."

Bana ba ruang lefutso le le leng feela le nang le sekoli ho motsoali a le mong e tla ba bajari, empa hangata ba ke ke ba ba le MLD. Ha bajari ba babeli ba e-na le ngoana, ho na le monyetla o le 1 ho oa ho 4 oa hore ngoana o tla fumana liphatsa tsa lefutso ka bobeli mme a be le MLD.

Ho na le mefuta e meraro ea MLD. Mefuta ena e ipapisitse le ha matšoao a qala:

• Matšoao a morao-rao a masea a MLD hangata a qala ka lilemo tse 1 ho isa ho tse 2.
• Matšoao a bacha a MLD hangata a qala pakeng tsa lilemo tse 4 le 12.
• Matšoao a batho ba baholo (le ba morao-rao ba MLD) a ka ba teng lipakeng tsa lilemo tse 14 le ho ba motho e moholo (ho feta lilemo tse 16), empa a ka qala ho fihla lilemong tsa bo-40 kapa bo-50.

Matšoao a MLD a ka kenyelletsa tse latelang:

• Ho phahama ka mokhoa o sa tloaelehang kapa ho fokotseha ha mesifa, kapa ho sisinyeha ho sa tloaelehang ha mesifa, efe kapa efe ea eona e ka bakang mathata a ho tsamaea kapa ho oa khafetsa
• Mathata a boitšoaro, liphetoho tsa botho, ho teneha habonolo
• Ho fokotseha ha ts'ebetso ea kelello
• Ho thata ho koenya
• Ho se khone ho etsa mesebetsi e tloaelehileng
• Ho hloka taolo
• Ts'ebetso e mpe ea sekolo
• Ho oa
• Mathata a puo, ho thella

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele, a shebile matšoao a sistimi ea methapo.

Liteko tse ka etsoang li kenyelletsa:

• Setso sa mali kapa letlalo ho batla arylsulfatase e tlase Ketsahalo
• Teko ea mali ho batla maemo a tlase a arylsulfatase A enzyme
• Teko ea DNA ea lefutso la ARSA
• MRI ea boko
• Boitšoaro ba methapo
• Lithuto tsa ho bontša matšoao
• Ho hlahloba urinal

Ha ho na pheko bakeng sa MLD. Tlhokomelo e shebile ho phekola matšoao le ho boloka boleng ba bophelo ba motho ka kalafo ea 'mele le ea mosebetsi.

Ho kenyelletsa 'mele oa masapo ho ka nkoa e le masea a MLD.

Patlisiso e ntse e ithuta ka mekhoa ea ho khutlisa enzyme e lahlehileng (arylsulfatase A).

Lihlopha tsena li ka fana ka leseli le eketsehileng ka MLD:

• Mokhatlo oa Naha oa Mathata a Rare --rarediseases.org/rare-diseases/metachromatic-leukodystrophy
• Tshupiso ea Lehae la NLM Genetics - ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
• Mokhatlo oa United Leukodystrophy Association - www.ulf.org

MLD ke lefu le matla le mpefalang ha nako e ntse e feta. Qetellong, batho ba lahleheloa ke mesifa le kelello. Nako ea bophelo e ea fapana, ho latela hore na boemo bo qalile ka lilemo life, empa lithuto tsa mafu hangata li nka lilemo tse 3 ho isa ho tse 20 kapa ho feta.

Batho ba nang le bothata bona ba lebelletsoe ho phela nako e khuts'oane ho feta e tloaelehileng. Nako ea pele ea ho hlahlojoa, lefu lena le tsoela pele kapele haholo.

Keletso ea lefutso ea khothaletsoa haeba u na le nalane ea lelapa ea lefu lena.

MLD; Arylsulfatase Ho haella; Leukodystrophy - metachromatic; Khaello ea ARSA

• Sisteme ea methapo e bohareng le methapo ea methapo

Kwon JM. Mathata a Neurodegenerative a bongoaneng. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 617.

Turnpenny PD, Ellard S, Cleaver R. Liphoso tsa tlhaho ea metabolism. Ka: Turnpenny PD, Ellard S, Cleaver R, bahlophisi. Lintho tsa Emery tsa Bongaka ba Liphatsa tsa lefutso le Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022: khaolo ea 18.