Pick chirwere

chirwere Pick chiri chirwere muvhiki yokutanga muupenyu. The chirwere kunoratidzwa nezviitiko uremu, uye zvose mberi abdominal kuzvimba. Zviratidzo izvi dzinobva nedumbu chiropa uye chirwatata. Niemann-Pick chirwere kunokonzera kuzvimba node nodes, uye yellowing ganda, mune zvimwe zviitiko, pane leukocytosis uye hypercholesterolemia. murwere rufu kunoitika pamusana kukura kuneta uye manyoka. The kuvhuya chitunha yakaratidza futa chiropa, chirwatata, kuwedzere node nodes ukuru. chirwere Pick unoita adrenal ruvara uye zvose zvomukati mune rakajeka tsvuku ruvara. Izvi nokuda deposition pamusoro phosphatides muchitokisi munyama. Lipids anogona yanonoka cardiac fibers, masero etsinga, skeletal tsandanyama, epithelial uye kwemakemikari anobudiswa nenyere.

chirwere Pick kwava chawo uye kusagadzikana lipid muviri phosphatide. The chirwere vachiberekwa uye remhuri vakomana
nevasikana kutambura zvakafanana kazhinji. Niemann-Pick chirwere ari inonyanyoshandiswa kuchengetwa
pakati Ashkenazi vaJudha, mune zvimwe zviitiko, chirwere rinowanikwa muna
1: 100 000 kuzvarwa mhenyu.

The chirwere achabatsirwa kwazvo maronda ose tsinga, mukuru kunonoka kukura. chirwere Pick yokutanga kurondedzerwa muna 1922, kuti zuva anenge 100 inorondedzerwa zviitiko. zvikonzero
chirwere hazvizivikanwi, asi mumwe akaipa zvinhu ndiyo dzinongoitika
ukama vabereki vomwana.

The kunotoda nekuratidza chirwere wakagamuchira paucheche, kazhinji rokutanga hafu achangoberekwa upenyu. Ikoko, vari Zvisinei, akapararira kurondedzerwa kurapwa zviratidzo chirwere pauduku uye kunyange mudiki. Zvishoma nezvishoma, murwere yakatanga ascites, yekudyidzana kwakawedzera node nodes. Skin tarisa kupenyerera uye waxy, pane pigmented nzvimbo.

At kwokutanga nzendo chirwere kuoneka kufamba zvirwere - pyramidal zviratidzo, vakawedzera mudzira hunenge uye tsandanyama matauriro,
richiripo paresis. In akazotevera nzendo Pick nehosha kunoratidzwa
tsandanyama hypotonia uye kusavapo mudzira hunenge. The mwana nokukurumidza
kukudziridza kusanzwa, upofu uye idiocy. On ari fundus zvinowanzooneka kuwanikwa
atrophy pakati ari optic etsinga uye panzvimbo iri macular munharaunda. Kana post-mortem zvidzidzo kazhinji gadza leukopenia uye hypochromic kupererwa neropa.

For zvakaomarara upenyu - chirwere inozivikanwa ne akaipa kosi. Varwere vakawanda vanofa mukati maviri makore oupenyu okutanga. Chinokonzera rufu cardio-pulmonary insufficiency uye intercurrent chirwere.

Vanobudirira kurapwa chirwere Niemann-Pick kuti nhasi haako. Nokuti kurapa rakaiswa mahormone, makemikari, chiropa atakatora, ropa. Zvisinei, nzira dzose idzi rekuva
migumisiro musapa, uyewo splenectomy. Kuitira kudzivirira chirwere,
vabereki mwana Pick chirwere, Zvinokurudzirwa varegedze
zvimwe kubereka.

mhando nhaka chirwere asati wakaiswa, sezvo varwere kufa mucheche. Maperembudzi anofungidzirwa chinopfuudzwa ari autosomal recessive nenzira. Izvi zvinotungamirira kuunganidza munyama uye nhengo dzose sphingomyelin, uye ganda hwomwana anova brownish-yellow tint. In embodiments siyana, kubuda zvirwere tsinga kukanganiswa pakawanda. Zvakaziviswa vasanyanye pamusoro maplatelet, kupererwa neropa, mapfupa tishu kunyoroveswa. Vana vane chirwere ichi havana chinokosha maronda ose tsinga, kuva nani. fungidziro upenyu.