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Transcript of Pompe Disease
Disease Conclusion References any questions? 1. Recognize the most common symptom associated with late-onset Pompe Disease
2.Identify the pathophysiology and manifestations of Pompe Disease
3. Differentiate between early onset and late onset
4. Describe treatment and prognosis for patients diagnosed with Pompe Disease
Assessment of respiratory status
Avoid drastic changes in fluid status (dehydration or fluid overload)
Monitor for arrythmias, including patients on ERT
Encourage appropriate exercise in consultation with a physical therapist
At risk for pneumonia and other infections
Immunizations should be up to date (including pneumococcal vaccine)
Objectives Treatment Nursing Implications Who is affected? What is it? A rare genetic disorder that is caused by a deficiency of acid maltase (alpha-glucosidase, abbreviated GAA).
Acid maltase is responsible for the breakdown of glycogen to glucose
Diagnosed by screening for common genetic disorders or by measuring the amount of GAA enzyme activity in the blood. Complete or near deficiency of GAA.
Symptoms begin in the first few months.
It is usually fatal in infants, causing cardiac or respiratory failure.
Difficulty feeding, poor weight gain, muscle weakness, floppiness, and head lag. May have an enlarged heart and an enlarged tongue.
The result: A deficiency in acid maltase results in an accumulation of glycogen, primarily in the cardiac and skeletal muscles, leading to the loss of muscle function. Partial deficiency of GAA.
Onset can be early childhood to late adulthood.
Children with Pompe Disease may appear mentally retarded and hypotonic, rarely living beyond 20 years of age.
In adults, muscle weakness is progressive but the disease is not fatal. The heart is not usually involved.
Symptoms usually include muscle weakness progressing to respiratory weakness.
Early Onset Late Onset *Generally the later the age of onset, the slower the progression of the disease is. Prognosis depends on the amount of respiratory muscle involvement. (2009). Mosby’s dictionary of medicine, nursing and health professions. (8 ed.). St. Louis, MO: Mosby Inc.
Schiffmann. R., & Brady, R. (2002). New prospects for the treatment of lysosomal storage diseases. Drugs, 62 (5), 733-742.
Muller, C., Jones, H., O’Grady, G., Suarez, A., Heller, J., & Kishnani, P. (2009). Language and speech function in children with infantile Pompe disease. Journal of Pediatric Neurology, 7 (2), 147-156.
(02/29/12). Retrieved from http://www.ninds.nih.gov/disorders/pompe/pompe.htm
(03/28/12). Retrieved from http://www.acmg.net/StaticContent/StaticPages/Pompe_Disease.pdf
Enzyme Replacement Therapy: improves cardiac function and structure (decreases heart size), and increases overall muscle strength, tone, and function, reduced overall glycogen accumulation
Aglucosidase alfa drugs
Myozyme © (infants and children) and Lumizyme © (non-infantile)
A patient on your pediatric unit is recently diagnosed with Pompe Disease. You expect that treatment will include:
a. Insulin therapy
c. IV fluids and electrolyte replacement
d. enzyme replacement therapy
Practice Question #1 Practice Question #2 You are caring for a 2 month-old patient who has a diagnosis of Pompe Disease. What two body systems will you be primarily concerned with?
a. respiratory and neurological
b. respiratory and cardiovascular
c. endocrine and cardiovascular
d. integumentary and neurological