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Year : 2015  |  Volume : 16  |  Issue : 2  |  Page : 19-22

Pompe disease: A rare clinical entity

Associate Professor, Sri B.M. Patil Institute of Nursing Science, Bijapur

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Genes control many aspects of the body, including production of important enzymes. Every gene in the body comes as a pair. One copy is passed on by the father and one by the mother. Changes to a normal DNA makeup can result in a defect, also called a mutation in the gene, which can cause the gene to function improperly. In Pompe disease and other similar disorders, a gene mutation causes a deficiency or malfunction of a necessary enzyme. The combination of Glucosidase Acid Alpha (GAA) genes inherited from both parents determines whether a person will be affected by Pompe disease. Although Pompe disease is very rare, it can run in families because it is inherited, meaning that it gets passed on to people through their parents. If someone is diagnosed with the disease, there is a risk that relatives may also have the disease or be carriers. It is particularly important to test siblings of an affected child. Hence genetic counseling plays an important role in care of child and their family members. A brief account of its etiology, pathogenesis, clinical features, diagnosis, and management is provided in this article. The nursing management including role of a nurse as a care coordinator is also discussed using exemplars.

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