International Journal of Advances in Nursing Management

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Niemann-Pick Disease:The Genetic Condition and Nursing Consideration


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1 Department of Medical Surgical Nursing, SDM Institute of Nursing Sciences, Sattur, Dharwad, 580009, Karnataka, India
     

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Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. There are three most common types of disease namely Niemann-Pick Types A, B and C. Niemann-Pick disease type C is an inherited condition in which the body cannot properly metabolize cholesterol and fats, resulting in an excess of these substances in the body. Approximately 95% of Niemann–Pick type C cases are caused by Genetic mutations in the NPC1 gene, referred to as type C1. The most common symptoms are, hepatomegaly, splenomegaly, prolonged neonatal jaundice, ataxia, clumsiness or frequent falls, dysphagia, gelastic cataplexy, myoclonus and deafness. Miglustat is the only disease-specific oral therapy approved to treat progressive neurological manifestation of NP-C.

Keywords

Niemann-Pick Disease, Lysosome, Mutation, Gene, Cataplexy.
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  • Niemann-Pick Disease:The Genetic Condition and Nursing Consideration

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Authors

Ananda Kudari
Department of Medical Surgical Nursing, SDM Institute of Nursing Sciences, Sattur, Dharwad, 580009, Karnataka, India

Abstract


Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. There are three most common types of disease namely Niemann-Pick Types A, B and C. Niemann-Pick disease type C is an inherited condition in which the body cannot properly metabolize cholesterol and fats, resulting in an excess of these substances in the body. Approximately 95% of Niemann–Pick type C cases are caused by Genetic mutations in the NPC1 gene, referred to as type C1. The most common symptoms are, hepatomegaly, splenomegaly, prolonged neonatal jaundice, ataxia, clumsiness or frequent falls, dysphagia, gelastic cataplexy, myoclonus and deafness. Miglustat is the only disease-specific oral therapy approved to treat progressive neurological manifestation of NP-C.

Keywords


Niemann-Pick Disease, Lysosome, Mutation, Gene, Cataplexy.

References