E koho i ka maʻi

E koho i ka maʻi ua diagnosed i loko o ka hebedoma mua o ke ola. I ka maʻi ua wehewehe aku ma ka hana keaka ke kaupaonaʻana poho, a me nā mea a pau e holumua ai abdominal nani. Mau hoailona i ka nānā 'ana i ka hoʻonui o ke akepaʻa a me ka spleen. Niemann-e koho i maʻi ke kumu no ka pehu lymph aka wahi, a me ka yellowing o kaʻili, ma kekahi manawa, he mea leukocytosis a me ka hypercholesterolemia. hoʻomanawanui make ia lŘlŘ like me ka hopena o ka ulu exhaustion a me ka diarrhea. Ke autopsy hoikeia mai bloated akepaa, spleen, E hoomahuahua auanei lymph aka wahi i loko o ka nui. E koho i ka maʻi a nā adrenal waihoʻoluʻu a me nā mea a pau na nā loko ma ka melemele waihoʻoluʻu. Keia mea aie a hiki i ka palapala moʻopane o phosphatides i loko o ka halepaahao nā'aʻaʻa. Lipids hiki ke hoopanee i ka cardiac olona, nā aʻalolo keena, skeletal Muscle, epithelial a me ka endocrine nā loko.

E koho i ka maʻi mea ma kona kumu, a me kāna hana o lipid pūnao phosphatide. Ka maʻi He congenital a me kaʻohana keiki
a me nā kaikamāhine me koʻu hoomanawanui ana'ku like pinepine. Niemann-e koho i maʻi ua loa pinepine malama
iwaena o Ashkenazi Iudaio, i loko o nā hihia, i ka maʻi i loko o ia lŘlŘ
1: 100 000 ola hanau.

I ka maʻi ua pu ma ka loa lesions o ka'emi'ōnaehana, mau developmental ke kali ole. E koho i ka maʻi ho'ākāka 'ia ma mua i loko o 1922, i ka lā ma kahi o 100 i ho'ākāka' ia hihia. kumu
maʻi mea ike ole ia, akā, kekahi o ka hopena maikaʻi aʻe o ka kūlohelohe
pilina o nā mākua i ke keiki ka.

Ka lapaʻau hoike ana o ka maʻi i loaa mai ma ka wā kamaliʻi, ka hapanui pinepine i loko o ka hapa mua o ke keiki ola. Aia mau, nae, hoʻopuehuʻia nā wehewehena o ka lapaʻau na hoailona o ka maʻi i loko o ka wā kamaliʻi a hiki opiopio makahiki. Ke kiʻekiʻe, ka mea ahonui ulu ascites, me ka nui loa mahuahua lymph aka wahi. Skin nana ka lā'ī a me ka waxy, ma laila nō pigmented pāhili.

Ma na kuʻina ka loiloi mua o ka maʻi ikea neʻe kāna hana - pyramidal hoailona, mahuahua tendon reflexes a me Muscle leo,
lala paresis. Ma nā kahua o ka hoʻonaʻauao ma hope o ke koho i ka maʻi ua wehewehe aku ma
Muscle hypotonia a me ka wa e kaawale aku o tendon reflexes. Ke keiki koke
ulu pepeiao kuli, makapo a me ka idiocy. Ma ka fundus ua pinepine i loaʻa
atrophy o ka optic nā aʻalolo a me ke kina ole ma ka macular wahi. I ka puka paha-mortem haʻawina pinepine e hoʻouka leukopenia a me hypochromic anaemia.

Ei no ka adverse ola - he maʻi wehewehe aku ma ka malignant papa. Loa nā mea maʻi e make i loko o ka elua makahiki mua o ke ola. Ke kumu o ka make ka cardio-pulmonary insufficiency a me intercurrent maʻiʻaʻai.

Haʻi'ōlelo ohe. No ka maʻi Niemann-e koho i no i keia la, aole ia i nei. No ka lapaʻau noi hormones, nā'ūhū, ake nā pōʻalo, koko transfusion. Eia naʻe, i kēia mau kiʻina hana a pau o ka maikaʻi
nā hualoaʻa mai e haawi aku, e like me splenectomy. I mea e pale aku i ka maʻi,
na makua o ke keiki me ka e koho i ka maʻi, ka mea, ua? aeiiaiaoaony e kaohi aku mai
hou nā'ōlelo.

ʻano o ka'āina hoʻoili o ka maʻi i ole i ua i, e like me nā mea maʻi e make ma kaʻuʻuku mai. I ka maʻi ua presumably pū i hiki i ka autosomal recessive ano. Ua hiki aku i ka hoʻomāhuahua i loko o nā nā'aʻaʻa a me nā loko o ka sphingomyelin, a me ke keiki o ka ili i brownish-yellow tint. I likeʻole nā kinolau, i ke kahe maʻi o ka'emi'ōnaehana loli ana i ka loli iki ana degere. Hoike i ka emi ana o platelets, anaemia, iwi'aʻaʻa i hoopalupaluia,. Children me keia maʻi i ole nui lesions o ka'emi oihana, i ka nui maikaʻi prognosis no ke ola.