[Niemann-Pick disease--a rare disease in children's hepatology (a clinical case)].
The aim is to acquaint medical society with literature data and specific details of clinical incidents of Niemann-Pick disease among 14 year old children. The article gives a brief review of literature on the problem of diagnostics, symptoms and treatment of Niemann-Pick disease in children. A clinical case of a forteen-year-old girl with type C Niemann-Pick disease is presented, the peculiarity of which is a combination of symptoms typical of the disease with a low level of ceruloplasmin in serum.
V S
VS
Berezenko
M B
MB
Dyba
D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000031:analogs & derivatives / Q000627:therapeutic use; D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008099:Liver / Q000473:pathology; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D016896:Treatment Outcome
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein; D017485:1-Deoxynojirimycin; C059896:miglustat