CLINICAL AND GENETIC SPECIAL FEATURES OF NIEMANN-PICK DISEASE, TYPE C

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Abstract

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.



About the authors

E. Yu. Zakharova

Research Centre of Medical Genetics of RAMS, Moscow, Russian Federation

Author for correspondence.
Email: neonatepearl@yandex.ru
Candidate of Medical Sciences, Head of Laboratory of Hereditary Metabolism Disorders, Medical-Genetic Scientific Center, Russian Academy of Medical Sciences Address: 115478, Moscow, Moskvorechye str., 1; Tel.: (499) 324-20-04 Россия

S. V. Mikhailova

Russian Clinical Children’s Hospital of Ministry of Healthcare of Russian Federation, Moscow, Russian Federation

Email: neonatepearl@yandex.ru
PhD, Head of Medical Genetics Department, Russian Children’s Clinical Hospital Address: 117997, Moscow, Leninskiy av., 117; Tel: (495) 936-94-20 Россия

T. Yu. Proshlyakova

Research Centre of Medical Genetics of RAMS, Moscow, Russian Federation

Email: neonatepearl@yandex.ru
Россия

G. E. Rudenskaya

Research Centre of Medical Genetics of RAMS, Moscow, Russian Federation

Email: neonatepearl@yandex.ru
PhD, Head Scientific Worker, Scientific Consultative Department, Medical-Genetic Scientific Center, Russian Academy of Medical Sciences Address: 115478, Moscow, Moskvorechye str., 1; Tel.: (499) 324-87-72 Россия

References

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