Topic > What is Gaucher disease - 1894

Gaucher disease is a hereditary, chronic and progressive genetic disease. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition among the diseases of the lysosomal accumulation order (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated within the lysosome (Enderlin, 2003). This causes the cells to swell and is visible under a microscope. It is estimated that approximately 1 in 40,000 to 60,000 people are affected by Gaucher disease, which is approximately 10,000 people worldwide (Hughes, 2013). Additionally, Gaucher disease has a higher frequency among Ashkenazi (Eastern European) Jews: up to 1 in 450 people. There are three clinical subtypes of Gaucher disease. The non-neuronopathic form (type 1) is the most common form and does not involve the central nervous system (Hockenberry, 2013). Type 1 Gaucher disease has many clinical signs and symptoms that can begin in childhood and progress over time. A general rule to follow with Gaucher disease is that the earlier the first symptoms appear in life, the more likely the disease will become severe and worse if left untreated (Mikosch, 2011). Spleen enlargement is typically the initial finding and most common sign. Skeletal abnormalities are also very common and are present in most patients at the time of diagnosis. Type 2 Gaucher disease is a rare and rapidly progressive form that affects the brain and organs affected by type 1 Gaucher disease (Rossi, 2011). Previously called “infantile Gaucher disease,” type 2 is characterized by severe neurological involvement in the first year of life. Less than 1 in 100,000 newborns is affected by type 2 disease (Mikosh, 2011). Newborns with… half the paper… if their caregivers need a break. Also, talk to your family about the friends and relatives they have reached out to or the organizations they are currently using to make their daily tasks easier. In general, the assessment will be based on the family and patient's observation and verbal reporting of their well-being. Gaucher disease is a rare childhood disease that has many effects on the patient and family, including financial, spiritual, physical, emotional. , psychosocial, cultural and community influences. Caring for a patient with Gaucher disease is complex and individualized. With no treatment available, managing the symptoms of Gaucher disease is the only treatment. Creating a plan, identifying strategies to achieve goals, and evaluating outcomes allows the patient, family, and nurse to identify areas for improvement and what is already working well.