Umntwana syndrome ayo

isifo ayo, kwaye syndrome ethile ayo, leyo ngazo CNS, intliziyo kunye izihlunu skeletal ezingaqhelekanga, yenye yezona ndawo zibalulekileyo neuropaediatrics.

Mitochondria - ntoni na?

Njengoko abaninzi baya kukhumbula kwikhondo esikolweni eziphilayo, a mitochondrion sesinye organelles iseli umsebenzi ogama main inkqubo Ukuqulunqwa kwe internal yeselula molecule ATP. Ngapha koko, kwenzeka kukho namachibi lwe fatty kwenzeka Umjikelo acid tricarboxylic kunye nezinye iinkqubo ezininzi. Uphando oluqhutyiweyo apha kwinkulungwane XX ngasekupheleni, phendla ayo ebaluleke nayo kwiinkqubo ezifana uvakalelo leziyobisi, iseli senescence, apoptosis (kweeseli sokubhubha). Ngako oko, nokuhluthwa imisebenzi yawo kukhokelela ukuba ukuswela amandla, yaye ngenxa yoko; umonakalo ukufa kweeseli. Ecace ezi ukunyhashwa kwenzeka kwiiseli ze-nervous system kunye nezihlunu skeletal.

Mitohondriologiya

Izifundo Genetic bazimisele ukuba mitochondria kufuneka ufuzo yabo, ngaphandle kokuba genome yeseli isiqalo, yaye izitenxo kwimisebenzi yawo wena amaninzi ezinxulumene yemfuza ezikhoyo apho. Yonke into kunokwenzeka ukuchonga indlela yenzululwazi, sasifunda izifo ezinxulumene nemisebenzi yamehlo ayo - tsitopatii ayo. Iiplastiki nokuba manqapha okanye enaso, ilifa kwicala likanina.

symptomatology

Ayo Syndrome okunokubonakaliswa kwiinkqubo ezahlukeneyo ngabantu, kodwa wabonakala abaninzi iphawulwe walungisa iimpawu yoluvo. Oku kubangelwa yinto yokuba inyama luvo ezichatshazelwe kakhulu kakhulu ngenxa hypoxia. iimpawu uphawu uvumela sisilonda esidumbileyoesingaphakathi umrhanelwa syndrome ayo kwi kwizihlunu skeletal zezi hypotonia; ukungaphumeleli okunyamezela ngokwaneleyo amandla omzimba, oftalmoparez ezahlukeneyo myopathy (ukushwabana of izihlunu eye), ptosis. Olu luvo isenokuba kukufa-nto leyo, ukuxhuzula, ukuphazamiseka pyramidal, ukuphazamiseka kwengqondo. Ngokuqhelekileyo, syndrome ayo xa umntwana usoloko ebonakalisa ukulibaziseka yophuhliso okanye ukulahleka izakhono sele ifumene, lengqondo sokunciphisa. Ukusuka inkqubo yonyango kunokwenzeka uphuhliso yesifo seswekile, ukuphazamiseka ze esinobubovu lengqula nepancreas, abazizidalwa ngokukhula, ukufikisa. izilonda wentliziyo basenokuba kwimvelaphi ezimbi zeminye imibutho, nokuba nesizungu. syndrome ayo kule meko iyaboniswa cardiomyopathy.

ekuxilongweni

isifo ayo amaninzi afumaneka kwi kwixesha lweentsana okanye kule minyaka yokuqala yobomi bomntwana. Ngokutsho izifundo amazwe, eli leengxaki kwafunyaniswa ukuba usana ka 5000. Kuba uxilongo ndiphilele iimvavanyo ezibanzi lwezonyango, yemizila yemfuza, nezixhobo, kwemichiza ezinto. Ukuza kuthi ga ngoku, kukho inani iindlela ukuchonga le ngezifo.

1. Electromyography - kunye neziphumo yesiqhelo kwi imvelaphi iqapheleka buthathaka kwezihlunu, isigulane ivumela ukuba ukrokrela ngezifo ayo.
2. lactic acidosis ngokufuthi ikhapha isifo ayo. Kakade ke, kuphela ubukho bayo ayanelanga ukuba kuyokufunyaniswa isifo, kodwa imilinganiselo lactic acid egazini emva umthambo kumfundisa kakhulu.
3. Biopsies of kwemisipha skeletal kunye nesifundo histochemical wafumana biopsy yeyona ulwazi.
4. iziphumo kubonisa usetyenziso ngaxeshanye wokukhanya electron microscopy kwemisipha skeletal.

Ayo Encephalopathy (Leigh syndrome)

Omnye nezifo ebantwaneni osetyenziswe ezinxulumene utshintsho genetic mitochondria izifo uLeigh, ezichazwe kuqala ngo--1951. Iimpawu zokuqala kuvela eneminyaka engama omnye ukuya kwemithathu, kodwa kubekho Ebonakalisa ngaphambili - ngenyanga yokuqala yobomi, okanye, phezu koko, emva kweminyaka esixhenxe. Wabonakala zokuqala zezi yokulibazisa uphuhliso, ukuncipha ubunzima emzimbeni, ukungabi namdla, ukugabha retransmission. Ekuhambeni kwexesha uzibandakanya iimpawu luvo - ephula kwezihlunu (hypotonia, DYSTONIA, hypertonia), unditsho, ukulahlekelwa nolungelelaniso.

Esi sifo sichaphazela amalungu yombono: ukuphuhlisa yoma le luvo optic, yamehlo abuthakathaka, ukuphazamiseka amehlo. Xa abantwana ezininzi isifo kancinci iqhubeka, iimpawu ezikhulayo ukuphazamiseka pyramidal kuvela ukuphazamiseka yokuginya, umsebenzi sokuphefumla.

Omnye abantwana nokubandezeleka kulo ngezifo, waba Pugachev Yefim, syndrome ayo, apho kwafunyaniswa ukuba ngo 2014. Umama wakhe, uHelen; ucela uncedo kubo bonke abantu abachaphazelekayo.

komntwana syndrome ayo

Wezulu, ngelishwa, kaninzi ngokuphoxa ukuthandana. Le enxulumene uxilongo kade zesi sifo, ukunqongophala iinkcukacha kwi-Pathogenesis, imeko ebuhlungu yale izigulane ezinxulumene kunye nokubandakanyeka multisystem; kwakunye nokungabikho iikhrayitheriya efanayo nokuvavanya ukusebenza unyango.

Ngenxa yoko, unyango lwezifo ezifana isekhona kukwinqanam sophuhliso. Ngokuqhelekileyo, oko kuncitshiswa kuthomalaliso kwangumqondiso nezixhasayo.