Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

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• 作者：Jayesh Sheth ; Jijo John Joseph ; Krati Shah ; Mamta Muranjan…
• 关键词：Alveolar proteinosis ; Case report ; Hepatosplenomegaly ; Lung involvement ; Lysosomal Storage Disorders ; Niemann ; Pick disease type C ; NPC2 gene
• 刊名：BMC Medical Genetics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：1345KB
• 刊物主题：Human Genetics; Cytogenetics; Gene Function;
• 出版者：BioMed Central
• ISSN：1471-2350
• 卷排序：18

文摘

BackgroundNiemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene.