Isifo Pick sika

isifo Pick sika sitholakale ngesonto lokuqala ekuphileni. Lesi sifo libhekene okukhulu kwesisindo, futhi zonke ukuvuvukala okuqhubekayo besisu. Lezizibonakaliso zisekelwe kweNdikimba isibindi ubende. isifo Niemann Khetha kubangela evuvukele lymph node, futhi yellowing kwesikhumba, kwezinye izimo, kukhona leukocytosis futhi hypercholesterolemia. ukufa nesineke kwenzeka ngenxa ukukhathala ezikhulayo kanye nesifo sohudo. I kwesidumbu wembula isibindi ususuthi, ubende, lakhulisiwe lymph node ngosayizi. isifo Pick ubangela umbala adrenal nazo zonke izitho zangaphakathi ku umbala ophuzi. Lokhu kungenxa sebethule phosphatides emisipheni cell. Lipids zingase zephuze e Imicu yotshani inhliziyo, njengoba amangqamuzana ezinzwa e, imisipha lwamathambo, EPITHELIAL futhi endocrine izitho.

isifo Pick sika phansi yayo kanye iziyaluyalu lipid umzimba phosphatide. Lesi sifo abafana azalwa naso futhi ngofuzo
namantombazana ahlupheke kaningi ngokulinganayo. isifo Niemann Khetha ngokuvamile iningi waphawula
phakathi kwamaJuda Ashkenazi, kwezinye izimo, isifo kwenzeka
1: 100 000 ezizalwa ziphila.

Lesi sifo kuhambisana izilonda okunzima isimiso sezinzwa, jikelele ukubambezeleka zentuthuko. isifo Pick kuqala echazwe ngo-1922, kuze kube manje mayelana 100 echazwe amacala. izizathu
isifo ayaziwa, kodwa omunye ezintweni ezingezinhle iyona yemvelo
ubuhlobo abazali bengane.

Ukubonakaliswa emitholampilo ye isifo wathola esewusana, avame engxenyeni yokuqala yokuphila kosana olusha. Nokho, Kunezinto izincazelo abahlakazekile izimpawu zokwelashwa isifo ebuntwaneni ngisho usemncane. Kancane kancane, lesi siguli athuthukile ascites, kakhulu anda zamanzi. Skin bheka acwebezelayo futhi waxy, zikhona izindawo esikhunjeni.

Ngesikhathi izigaba sokuqala lesi sifo bavele ukunyakaza iziyaluyalu - izimpawu pyramidal, kukhuphuke umsipha ikhaliphe futhi imisipha ithoni,
esitho paresis. Ezigabeni kamuva yesifo Pick sika libhekene
imisipha hypotonia futhi ukungabi khona ingqondo umsipha. Ingane ngokushesha
ukuthuthukisa ubuthulu, ubumpumputhe futhi idiocy. On the fundus ngokuvamile utholakala
yoma ka emsipheni optic futhi endaweni endaweni macular. Lapho kwesidumbu izifundo ngokuvamile ukufaka leukopenia futhi anaemia hypochromic.

Isibikezelo ukuphila enqabayo - isifo libhekene Yiqiniso ebulalayo. Iziguli eziningi ufe kungakapheli neminyaka emibili yokuqala yokuphila. Okwamanje imbangela yokufa kuyinto cardio-yamaphaphu esingamahlalakhona futhi ukutheleleka intercurrent.

izindlela zokwelapha ezisebenzayo lesi sifo Niemann Khetha namuhla alikho. Ukuze ukwelashwa isicelo hormone, ama-enzyme, ezikhishwe isibindi, ukumpontshelwa igazi. Nokho, zonke lezi izindlela ezinhle
imiphumela ningayeki, kanye splenectomy. Ukuze avimbele lesi sifo,
Abazali bengane isifo Pick sika, kutuswa ukuba ugweme
ukukhiqizwa kabusha eminye.

uhlobo ifa lesi sifo ingakamiswa usethe, njengoba iziguli afe isakhasa. Lesi sifo mhlawumbe idluliselwa i autosomal ngendlela esikhubazayo. Lokhu kuholela ekuqongeleleni kwezicubu kanye nezinhlaka sphingomyelin, futhi isikhumba sengane kuba sinombala-yellow tint. Ngo embodiments ahlukahlukene, ukugeleza izifo ezithile zesimiso sezinzwa abathintekayo ngezindlela ezingafani. Ukwambula ukwehla ka-platelet, ukuntuleka kwegazi emzimbeni, ithambo izicubu ukuthambisa. Izingane nalesi sifo abanalo izilonda abalulekile isimiso sezinzwa, abe Izibikezelo kahle ukuphila.