Open AccessCLINICAL AND GENETIC SPECIAL FEATURES OF NIEMANN-PICK DISEASE, TYPE C
Author(s) -
Ekaterina Zakharova,
С. В. Михайлова,
Tatiana Yu. Proshlyakova,
G. E. Rudenskaya
Publication year - 2012
Publication title -
vestnik rossijskoj akademii medicinskih nauk
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.122
H-Index - 15
eISSN - 2414-3545
pISSN - 0869-6047
DOI - 10.15690/vramn.v67i12.483
Subject(s) - disease , niemann–pick disease, type c , niemann–pick disease , medicine , lysosomal storage disease , genetic disorder , npc1 , pediatrics , pathology , receptor , endosome
Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI «RCMG» of RAMS, are discussed in this review.