Isifo sikaPick

Isifo se-Peak sifumaneka kwiiveki zokuqala zobomi bomntwana. Esi sifo sibonakala ngokulahlekelwa kwesisindo esibukhali kunye nokukhukhuka okwandayo kwesisu. Ezi zimpawu zisekelwe kwenyuka esibindi nasesitheni. Isifo sikaNyman-Pick senza ukwanda kwimizimba ye-lymph ne-yellowing yolusu, kwezinye iimeko i-leukocytosis kunye ne-hypercholesterolemia ziyabonwa. Ukufa kwesigulane kuza ngenxa yokunyuka kwenyusa kunye nehudo. Ngokwe-autopsy, isibindi esipheleleyo, i-spleen, i-lymph nodes ezandisiweyo zifunyenwe. Isifo sobunzima sibangela ukuba izigulane ze-adrenal nazo zonke izitho zangaphakathi zibalale umbala obala obala. Oku kungenxa yokutshala kweefosphatidi kwiisculi zeeseli. I-Lipids inokufakwa kwiintambo zeentliziyo, iiseli zesistim seentsholongwane, izihlunu zamathambo, i-epithelium kunye nezitho zangasese zangaphandle.

Isifo sikaPick sisekelwe kwisiseko sayo ukuphula umthetho we-lipid kunye ne-phosphatide metabolism. Esi sifo sizalwa kunye nosapho, abafana
Kwaye amantombazana athatyathwa ngokufanayo. Isifo se-Niemann-Pick sisoloko sigcinwa
Phakathi kwamaYuda ase-Ashkenazi, kwezinye izifo isifo sifika
Ukulingana kwe-1: 100,000 iintsana.

Esi sifo sihamba kunye nezilonda ezinzima zesimiso se-nervous, ukulibaziseka ngokubanzi ekuphuhliseni. Ngesihlandlo sokuqala isifo sikaPick sachazwa ngo-1922, ukuza kuthi namhlanje, malunga neziganeko ezingama-100 zesifo sele zichaziwe. Izizathu
Iipathologies aziwazanga, kodwa enye yezinto ezimbi ziyiyo
Ulwalamano lwabazali bomntwana.

Ukubonakaliswa kwezonyango zesifo kufaka ebusaneni, ngokuqhelekileyo kwisiqingatha sobomi besana olutsha. Kukho, nangona kunjalo, inkcazo echaseneyo yeempawu zeklinikhi zesifo ebantwaneni nakubutsha. Kancinci, isigulane sikhula, i-lymph nodes zanda kakhulu. Isikhumba sigubungela ukubukeka okucwebileyo kunye nokwenyuka, kukho indawo enemibala.

Kwimigangatho yokuqala yesi sifo kunemingcipheko yemoto - iimpawu zepramramidal, ukwanda kweetonon reflexes kunye ne-tone muscle,
IParesis yemida. Kwimigangatho yesibini, isifo sikaPick sibonakala
I-hypotonia yemisipha kunye nokungabikho kwe-tendon reflexes. Ngomntwana ngokukhawuleza
Ukuzila, ukuphunga kunye ne-idiocy. Kwi- fundus itholakala rhoqo
I-Atrophy ye- optic nerve kunye namabala kwindawo e-macular. Ngophando lwama-anatomical pathological, ndihlala ndibeka i-leukopenia ne- hypoemromic anemia.

Isibhengezo sobomi asibi kakuhle - eso sifo sibonakaliswe yinkqubo embi. Uninzi lwezigulana ziyafa kwiminyaka emibini yokuqala yobomi. Isizathu sokufa kukuphelelwa yintliziyo kunye nokusuleleka kwezifo.

Azikho iindlela ezifanelekileyo zokuphatha isifo seNiman-Pick namhlanje. Ukulungiselela amalungiselelo e-hormone, ama-enzyme, iincutshe zesibindi, kusetyenziswa igazi. Nangona kunjalo, zonke iindlela ezifanelekileyo
Iziphumo ayiniki, kunye ne-splenectomy. Ukukhusela izifo,
Abazali abanomntwana kunye nesifo sikaPikk bayacetyiswa ukuba babaleke
Ukuzalana okuqhubekayo.

Uhlobo lwelifa lesi sifo alukabikwa, kuba izigulane ziyafa zisana. Esi sifo sinokudluliselwa ngohlobo lwe-autosomal. Oku kubangela ukuqokelela kwiimfucu kunye nezitho ze-sphingomyelin, ngelixa ulusu lomntwana lufumana u-yellow hue. Ngeenguqu ezahlukeneyo zesifundo sesi sifo, inkqubo ye-nervous ichaphazelekayo kwiimilinganiselo ezihlukeneyo. Kukho ukuhla kweeplatelets, ukuphazamiseka kwegazi, ukunciphisa amathambo esithambo. Abantwana abanesi sifo, abangenayo izilonda ezibalulekileyo zesimiso se-nervous, bane-prognosis engcono yokuphila.