Difficult diagnosis. Niemann - Pick disease, type C

Abstract

Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the child's life and slow the progression of the disease. The article focuses on a rare genetic lysosomal storage disease which is inherited in autosomal recessive fashion - Niemann - Pick disease, type C. Types of clinical course and diagnostic methods are described in detail.

Keywords

• лизосомные болезни
• болезнь ниманна -пика
• тип с
• диагностика
• клиническое течение
• лечение
• дети
• lysosomal storage diseases
• niemann - pick
• type c
• diagnosis
• clinical course
• treatment
• children
• lysosomal storage diseases
• niemann - pick
• type c
• diagnosis
• clinical course
• treatment
• children