Leukodystrophy yeMetachromatic

I-Metachromatic leukodystrophy (MLD) sisifo esichaphazela imithambo-luvo, izihlunu, amanye amalungu kunye nokuziphatha. Iya isiba mandundu ngokuhamba kwexesha.

I-MLD ihlala ibangelwa kukusilela kwe-enzyme ebalulekileyo ebizwa ngokuba yi-arylsulfatase A (ARSA). Ngenxa yokuba le enzyme ilahlekile, imichiza ebizwa ngokuba yi-sulfatides yakha emzimbeni kwaye yonakalisa inkqubo yeemithambo-luvo, izintso, i-gallbladder kunye namanye amalungu. Ngokukodwa, iikhemikhali zonakalisa ii-sheaths ezikhuselayo ezijikeleze iiseli zemithambo-luvo.

Esi sifo sidluliselwa kwiintsapho (njengelifa). Kuya kufuneka ufumane ikopi yohlobo olunesiphene kubazali bakho bobabini ukuze ubenesifo. Abazali banokuba nesini esineziphene, kodwa bangabinayo iMLD. Umntu one-gene enye enesiphene ubizwa ngokuba "ngumthuthi."

Abantwana abazuza njengelinye kuphela uhlobo lwesiphene kumzali omnye baya kuba ngabaphathi, kodwa ngesiqhelo abayi kuba neMLD. Xa abathwali ababini benomntwana, kukho ithuba elinye kwamane lokuba umntwana afumane zombini kwaye abe neMLD.

Zintathu iindlela zeMLD. Iifom zisekwe xa iimpawu ziqala:

• Ukufika kade kweempawu ze-MLD zihlala ziqala ngo-1 ukuya ku-2.
• Iimpawu zolutsha lwe-MLD zihlala ziqala phakathi kweminyaka emi-4 ukuya kweli-12.
• Iimpawu zabantu abadala (kunye nenqanaba lokugqibela lomntwana MLD) zinokwenzeka phakathi kweminyaka eyi-14 kunye nokuba mdala (ngaphezulu kweminyaka eyi-16), kodwa zinokuqala emva kweminyaka engama-40 okanye engama-50.

Iimpawu ze-MLD zinokubandakanya oku kulandelayo:

• Ukuphakama okungaqhelekanga okanye ukunciphisa ithoni yemisipha, okanye ukungahambi kakuhle kwemisipha, nayiphi na into enokubangela iingxaki zokuhamba okanye ukuwa rhoqo
• Iingxaki zokuziphatha, utshintsho kubuntu, ukucaphuka
• Ukuncipha kokusebenza kwengqondo
• Kunzima ukugwinya
• Ukungakwazi ukwenza imisebenzi yesiqhelo
• Ukungakwazi ukuzibamba
• Ukuqhuba kakubi kwesikolo
• Ukuxhuzula
• Ubunzima bokuthetha, ukungahambi kakuhle

Umboneleli wezempilo uya kwenza uvavanyo lomzimba, egxile kwiimpawu zenkqubo yeemvakalelo.

Uvavanyo olunokwenziwa lunokubandakanya:

• Igazi okanye inkcubeko yesikhumba ukujonga arylsulfatase ephantsi Umsebenzi
• Uvavanyo lwegazi ukujonga i-arylsulfatase esezantsi Amanqanaba e-enzyme
• Uvavanyo lwe-DNA yohlobo lwe-ARSA
• I-MRI yengqondo
• I-biopsy yamathambo
• Izifundo zokutyikitya amathambo
• Uhlalutyo lomchamo

Akukho lunyango lwe-MLD. Unonophelo lujolise kunyango kunye nokugcina umgangatho wobomi bomntu ngokunyanga ngokwasemzimbeni nangokomsebenzi.

Ukufakelwa komongo wethambo kunokuqwalaselwa kwi-MLD ebusaneni.

Uphando lufunda ngeendlela zokutshintsha i-enzyme elahlekileyo (arylsulfatase A).

La maqela anokubonelela ngolwazi oluthe kratya kwi-MLD:

• Umbutho weSizwe weengxaki zoRare -rarediseases.org/rare-diseases/metachromatic-leukodystrophy
• Isalathiso seKhaya leNLM yemfuzo - ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
• Umbutho weUnited Leukodystrophy - www.ulf.org

I-MLD sisifo esibi esiba mandundu ngokuhamba kwexesha. Ekugqibeleni, abantu baphulukana nayo yonke imisipha kunye nokusebenza kwengqondo. Ubomi bobomi buyahluka, kuxhomekeka ekubeni imeko iqale ngakanani, kodwa ikhosi yesi sifo ihlala iqhuba iminyaka emi-3 ukuya kwengama-20 okanye nangaphezulu.

Abantu abanale ngxaki kulindeleke ukuba babe nexesha elifutshane kunexesha eliqhelekileyo lobomi. Ubudala bokuqala bokuchongwa kwesifo, kokukhona esi sifo siqhubela phambili ngokukhawuleza.

Ukucebisa ngemfuza kuyacetyiswa ukuba unembali yosapho kwesi sifo.

I-MLD; Ukusilela kweArylsulfatase; Leukodystrophy - metachromatic; Ukusilela kwe-ARSA

• Inkqubo ye-nervous central kunye ne-peripheral system

Kwon JM. Ukuphazamiseka kwengqondo kwi-neurodeergenerative yobuntwana. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 617.

I-Turnpenny PD, i-Ellard S, i-Cleaver R. Iimpazamo zokuzalwa zemetabolism. Ku: Turnpenny PD, Ellard S, Cleaver R, ii-eds. Izinto ze-Emery ze-Medical Genetics kunye neGenomics. Ngomhla we-16. IPhiladelphia, PA: Elsevier; 2022: isahluko 18.