MELAS Syndrome Matšoao le Phekolo

Mathata a Neurodegenerative

MELAS syndrome (myopathy ea mitochondrial, encephalopathy, lactic acidosis, le stroke) ke boloetse bo tsoelang pele ba methapo ea mafu bo bakoang ke liphetoho tsa DNA ea mitochondrial. Mitochondria ke mehaho ka hare ho lisele tsa rona tseo boholo ba tsona li ikarabellang ho hlahisa matla ao lisele li lokelang ho li etsa. Mitochondria e na le DNA ea tsona, eo kamehla e futsitsoeng ho 'm'ae.

Leha ho le joalo, lefu la MELAS hangata ha le futsane; phetoho ea lefutso lena hangata e etsahala ka boomo.

Hobane lefu lena ha le tsejoe hantle 'me ho ka ba thata ho li fumana, ha ho e-s'o tsejoe hore na batho ba bangata ba hlahisitse MELAS ho pholletsa le lefatše. Lefu lena le ama merabe eohle le banna le basali.

Hangata batho ba amehileng ba qala ho bontša matšoao a pakeng tsa lilemo tse 4 ho isa ho tse 40. lefu lena le atisa ho bolaea. Ha ho pheko bakeng sa lefu la MELAS; tlhokomelo ea meriana e tšehetsa haholo.

Matšoao

Hobane mitochondria e nang le bokooa e teng lihlopheng tsohle tsa bakuli ba nang le lefu la MELAS, mefuta e mengata ea matšoao a ka ba teng, ao hangata a fokolisang. Litlhapi li baka tšenyo ea boko, e lebisang ho tšoaroang ke lefu , ho senyeha kapa ho holofala. Lefu la bokooa (lefu la bokooa) le etsa hore ho thothomele, ho fofa ha mesifa, ho foufala, ho se utloe, le ho lebisa ho dementia. Myopathy (mafu a mesifa) e baka bothata ba ho tsamaea, ho falla, ho ja le ho bua.

Tsejoa

Batho ba bangata ba nang le lefu la MELAS, lefu la stroke, kapa matšoao a kang a hlooho ea hlooho, ho hlatsa kapa ho oela, ke letšoao la pele la hore ntho e itseng e fosahetse. Ketsahalo ea pele ea lefu la seoa e atisa ho hlaha bongoaneng pakeng tsa lilemo tse 4 le tse 15, empa e ka 'na ea hlaha ho masea kapa ho batho ba baholo.

Pele ho pepa ea pele, ngoana a ka 'na a lieha ho hōla le ho hlaolela, ho ba le bokooa ba ho ithuta kapa ho hlokomoloha bothata ba ho hloka tekano.

Liteko li ka hlahloba boemo ba lactic acid maling le cerebrospinal fluid . Liteko tsa mali li ka hlahloba enzyme (creatine kinase) e hlahisang lefu la mesifa. Sampula ea mesifa (biopsy) e ka lekoa bakeng sa sekoli se tloaelehileng haholo sa lefutso se teng hona joale MELAS. Liphuputso tsa litšoantšo tsa boko, tse kang computed tomography (CT scan) kapa litšoantšo tsa magnetic resonance (MRI), li ka sheba matšoao a bokooa ba kelello ho tsoa lichabeng.

Phekolo

Ka bomalimabe, ho ntse ho se na phekolo ea ho emisa tšenyo e entsoeng ke lefu la MELAS, 'me liphello bakeng sa batho ba nang le lefu hangata li futsanehile. Koetliso e tloaelehileng ea litlhapi e ka thusa ho ntlafatsa mamello ea batho ba nang le myopathy. Lithethefatsi tsa metabolic, ho akarelletsa le lijo tse tlatsang lijo, li bontšitse melemo ho batho ba bang. Litlhare tsena li kenyelletsa coenzyme Q10, phylloquinone, menadione, ascorbate, riboflavin, nicotinamide, creator monohydrate, idebenone, succinate le dichloroacetate. Ebang li-supplement li tla thusa batho bohle ba nang le lefu la MELAS ba ntse ba ntse ba ithuta.

Lisebelisoa:

Scaglia, F. (2002). Matšoao a MELAS. eMedicine.

Kaufmann P, Engelstad K, Wei Y, et al. Histori ea tlhaho ea MELAS e amanang le DNA ea mitochondrial m.3243A> G genotype. Neurology 2011; 77: 1965.