I-Metachromatic leukodystrophy

I-Metachromatic leukodystrophy (MLD) yisifo sofuzo esithinta izinzwa, imisipha, ezinye izitho, nokuziphatha. Kancane kancane kuya ngokuya ngokuhamba kwesikhathi.

I-MLD ivame ukubangelwa ukungabikho kwe-enzyme ebalulekile ebizwa nge-arylsulfatase A (ARSA). Ngenxa yokuthi le enzyme ilahlekile, amakhemikhali abizwa ngokuthi ama-sulfatide ayakha emzimbeni futhi alimaze isimiso sezinzwa, izinso, i-gallbladder nezinye izitho zomzimba. Ikakhulu, amakhemikhali alimaza izingqimba zokuzivikela ezizungeze amangqamuzana ezinzwa.

Lesi sifo sidluliselwa ngemindeni (esizuzwe njengefa). Kufanele uthole ikhophi yesakhi sofuzo esingalungile kubazali bakho bobabili ukuze ube nalesi sifo. Abazali ngamunye angaba nohlobo lwesakhi esonakele, kepha angabi nayo i-MLD. Umuntu onesakhi sofuzo esisodwa esinesici ubizwa ngokuthi "umphathi."

Izingane ezizuza njengefa isici esisodwa kuphela esingalungile kumzali oyedwa zizoba yisithwali, kepha imvamisa ngeke zihlakulele i-MLD. Lapho abathwali ababili benengane, kunethuba elilodwa koku-4 lokuthi ingane ithole izakhi zofuzo zombili futhi ibe ne-MLD.

Kunezinhlobo ezintathu ze-MLD. Amafomu asuselwa lapho izimpawu ziqala khona:

• Izimpawu ze-MLD zezinsana ezisekugcineni zivame ukuqala ngeminyaka engu-1 kuye ku-2.
• Izimpawu zezinsizwa ze-MLD zivame ukuqala phakathi kweminyaka engu-4 nengu-12.
• Izimpawu zabantu abadala (nezisezingeni lesikhathi sekwephuzile ze-MLD) zingavela phakathi kweminyaka yobudala eyi-14 kanye nokuba mdala (ngaphezulu kweminyaka yobudala eyi-16), kepha zingaqala ngemuva kweminyaka yama-40 noma ama-50.

Izimpawu ze-MLD zingafaka noma yikuphi okulandelayo:

• Ukuphakama kwemisipha okuphezulu ngokungajwayelekile noma ukuncipha, noma ukunyakaza kwemisipha okungavamile, noma yikuphi okungadala izinkinga ukuhamba noma ukuwa kaningi
• Izinkinga zokuziphatha, izinguquko zobuntu, ukucasuka
• Ukwehla kokusebenza kwengqondo
• Kunzima ukugwinya
• Ukungakwazi ukwenza imisebenzi ejwayelekile
• Ukungazibambi
• Ukusebenza kabi esikoleni
• Ukuquleka
• Ubunzima bokukhuluma, ukungahambi kahle

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa ngokomzimba, egxile kuzimpawu zesistimu yezinzwa.

Ukuhlolwa okungenziwa kufaka phakathi:

• Igazi noma isiko lesikhumba ukufuna umsebenzi ophansi we-arylsulfatase
• Ukuhlolwa kwegazi ukubheka amazinga aphansi e-arylsulfatase A enzyme
• Ukuhlolwa kwe-DNA kofuzo lwe-ARSA
• I-MRI yobuchopho
• I-biopsy yezinzwa
• Izifundo zokusayina izinzwa
• Ukuhlolwa komchamo

Alikho ikhambi le-MLD. Ukunakekelwa kugxile ekwelapheni izimpawu nasekulondolozeni izinga lomuntu lokuphila ngokwelashwa ngokomzimba nangokomsebenzi.

Ukufakelwa komnkantsha we-Bone kungacatshangelwa i-MLD yezinsana.

Ucwaningo lubheka izindlela zokufaka esikhundleni se-enzyme elahlekile (arylsulfatase A).

La maqembu anganikeza imininingwane eminingi nge-MLD:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile --rarediseases.org/rare-diseases/metachromatic-leukodystrophy
• Isethenjwa Sasekhaya seNLM Genetics - ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
• Inhlangano ye-United Leukodystrophy - www.ulf.org

I-MLD yisifo esibi esiba sibi ngokuhamba kwesikhathi. Ekugcineni, abantu balahlekelwa yiyo yonke imisipha nokusebenza kwengqondo. Isikhathi sokuphila siyahlukahluka, kuye ngokuthi isimo saqala kubuphi ubudala, kepha inkambo yesifo ivame ukugijima iminyaka emithathu kuya kwengu-20 noma ngaphezulu.

Abantu abanalesi sifo kulindeleke ukuthi babe nesikhathi esifushane kunokuphila okuvamile. Iminyaka yokuqala ukuxilongwa, isifo siqhubeka ngokushesha.

Ukwelulekwa ngofuzo kuyanconywa uma unomlando womndeni walesi sifo.

MLD; Ukushoda kwe-Arylsulfatase A; Leukodystrophy - metachromatic; Ukushoda kwe-ARSA

• Isistimu yezinzwa emaphakathi nesistimu yezinzwa ezungezayo

I-Kwon JM. Izinkinga ze-Neurodegenerative zobuntwana. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 617.

I-Turnpenny PD, u-Ellard S, uCleaver R. Amaphutha wokuzalwa we-metabolism. Ku: Turnpenny PD, Ellard S, Cleaver R, abahleli. Izinto zika-Emery ze-Medical Genetics ne-Genomics. Umhla ka-16. IPhiladelphia, PA: Elsevier; 2022: isahluko 18.