Ghota ọrịa

Ghota ọrịa na-chọpụtara na mbụ izu nke ndụ. The ọrịa e ji dị ịrịba ama na arọ ọnwụ, na ihe nile na-aga n'ihu abdominal ọzịza. Ndị a ihe ịrịba ama na-dabeere na ịmụba ọnụ ọgụgụ nke na imeju na-splin. Niemann-ghota ọrịa na-eme aza Lymph, na yellowing nke anụ ahụ, mgbe ụfọdụ, e nwere leukocytosis na hypercholesterolemia. ndidi ọnwụ emee ka a N'ihi nke na-eto eto ike ọgwụgwụ na afọ ọsịsa. The otopsii kpughere keokuko imeju, splin, ikpọ Lymph na size. Ghota na ọrịa na-eme adrenal agba na niile esịtidem akụkụ ke a na-egbuke egbuke-acha odo odo na agba. Nke a bụ n'ihi na deposition nke phosphatides na cell arọ. Lipids ike-egbu oge na gbasara obi emep uta eri, akwara sel, skeletal muscle, epithelial na endocrine akụkụ.

Ghota ọrịa bụ na ya isi na-anaghị ekwe nke lipid metabolism phosphatide. The ọrịa congenital na ezinụlọ ụmụ nwoke
na ụmụ agbọghọ na-ata ahụhụ dokwara mgbe. Niemann-ghota ọrịa a na ọtụtụ ugboro ugboro hụrụ
n'etiti Ashkenazi Juu, na ndị ọzọ, ọrịa n'akparamagwa
1: 100 000 ndụ ịmụ nwa.

The ọrịa na-esonyere oké ọnya nke ụjọ usoro, n'ozuzu otito oge. Ghota ọrịa mbụ kọwara na 1922, ka ụbọchị banyere 100 kọwara ikpe. ihe
ọrịa bụ amaghi, ma otu n'ime ihe ọjọọ ihe bụ eke
mmekọrịta nke ndị mụrụ nwa.

The adakarị ediyarade nke ọrịa natara na nwa ọhụrụ, na-akacha ke akpa ọkara nke nwa ọhụrụ ndụ. E nwere, Otú ọ dị, gbasasịa nkọwa nke na-adakarị ịrịba ama nke ọrịa na nwata na ọbụna-eto eto afọ. Nke nta nke nta, onye ọrịa mepụtara ascites, budata ụba Lymph. Skin anya onwunwu na waxy, e nwere pigmented ebe.

Mgbe mbụ nkebi nke ọrịa na-egosi ije ọrịa - pyramidal ịrịba ama, mụbara akaị na-aghọ nkọ na muscle ụda,
N'ịdị paresis. Na mgbe e mesịrị nkebi nke ghota ọrịa e ji
muscle hypotonia na enweghị akaị-aghọ nkọ. The nwa ngwa ngwa
ịzụlite ntị ochichi, ikpu ìsì na idiocy. On na fundus a na-hụrụ
atrophy nke na optic akwara na ntụpọ na macular ebe. Mgbe post-mortem ọmụmụ mgbe wụnye leukopenia na hypochromic anaemia.

Amụma oghom ndụ - a ọrịa ji ajọ N'ezie. Ọtụtụ ndị ọrịa anwụ n'ime afọ abụọ mbụ nke ndụ. The na-akpata ọnwụ bụ cardio-akpa ume insufficiency na intercurrent ọrịa.

Irè ọgwụgwọ maka ọrịa Niemann-ghota maka taa adịghị adị. Maka ọgwụgwọ etinyere homonụ, enzymes, imeju extracts, ọbara. Otú ọ dị, ihe niile ndị a ụzọ nke oma
nsonaazụ adịghị enye, nakwa dị ka splenectomy. Iji gbochie oria,
nne na nna nke a na nwa na ghota ọrịa, ọ na-atụ aro-ezere
n'ihu amụba.

ụdị nketa nke ọrịa bụghị ma e, dị ka ọrịa na-anwụ na nwa ọhụrụ. The ọrịa a na-ebute site ná presumably na autosomal recessive n'ụzọ. Nke a na-eduga ná ìgwè ke anụ ahụ na akụkụ nke sphingomyelin, na nwa ahụ na anụ na-aghọ brownish-acha odo odo tint. Dị iche iche embodiments, eruba ọrịa nke ụjọ usoro emetụta na dịgasị iche. Ìhè a ọnụ nke platelet, anaemia, ọkpụkpụ anụ ahụ softening. Children ọrịa a na-enweghị ịrịba ọnya nke ụjọ usoro, nwere a ọzọ mma prognosis maka ndụ.