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Pancreas
Pancreas
1. Cystic Fibrosis
most common lethal genetic disease and the most common cause of malabsorption among white American or European children by the end of 1 yr.: 8590% - develop pancreatic insufficiency, which, if untreated, can lead to malnutrition treatment of the associated pancreatic insufficiency leads to:
improvement in absorption better growth, and normalized stools
Pancreatic function - can be monitored with serial measurements of fecal elastase Certain mutations in the cystic fibrosis gene have been associated with idiopathic chronic pancreatitis
In infancy: poor growth and greasy, foul-smelling stools that are characteristic of malabsorption may be seen normal sweat chloride levels, lack of the cystic fibrosis gene, characteristic metaphyseal lesions, and fatty pancreas on CT examination
Despite adequate pancreatic replacement therapy, poor growth frequently continues Pancreatic insufficiency transient, and steatorrhea may spontaneously improve with age
Recurrent pyogenic infections otitis media, pneumonia, osteomyelitis, dermatitis, sepsis are common and are a frequent cause of death
Thrombocytopenia is found in 70% of patients and anemia in 50%. 33%- Development of a myelodysplastic syndrome 24%- transformation to acute myeloid leukemia
Pathologically: pancreatic acini are replaced by fat with little fibrosis Islet cells and ducts are normal The fatty pancreas has a characteristic hypodense appearance on CT and MRI scans
3. Pearson Syndrome
sporadic mitochondrial DNA mutation affecting oxidative phosphorylation manifests in infants with severe macrocytic anemia and variable thrombocytopenia The bone marrow demonstrates vacuoles in erythroid and myeloid precursors as well as ringed sideroblasts pancreatic insufficiency contributes to growth failure may develop diabetes mellitus (Kearns-Sayre, chronic progressive external ophthalmoplegia, diabetes with deafness syndromes) Mitochondrial DNA mutations are transmitted through maternal inheritance to both sexes or are sporadic
Rare causes: a. Pancreatic agenesis b. Johanson-Blizzard syndrome pancreatic insufficiency, deafness low birthweight, microcephaly, midline ectodermal scalp defects, psychomotor retardation, hypothyroidism, dwarfism, absent permanent teeth, and aplasia of the alae nasae c. congenital pancreatic hypoplasia d. congenital rubella
Some children with both syndromic (Alagille) and nonsyndromic paucity of intrahepatic bile ducts also have pancreatic insufficiency associated with their liver disease May be seen in patients with duodenal atresia and stenosis May be seen in infant with familial or nonfamilial hyperinsulinemic hypoglycemia (formerly called nesidioblastosis) who requires 95100% pancreatectomy to control hypoglycemia
Preparations Most Widely Used: Pancrease, Creon, Ultrase, and Panceacarb enteric-coated preparations that resist gastric acid inactivation Generic enzyme preparations- less effective and should be avoided Dosage: depends on the amount of food eaten established by trial and error estimated from the lipase requirement of 5001,500 IU/kg/meal adequate dose is one that is followed by the return of the stools to normal fat content, size, color, and odor
Enzyme replacement should be given at the beginning of and with the meal Tablets should be chewed powder and granules can be mixed with a small quantity of food must also be given with snacks Increasing enzyme supplements beyond the recommended dose does not improve absorption, may retard growth, and may cause fibrosing colonopathy
H2-receptor antagonist or a proton pump inhibitor gastric acid neutralizers use when adequate fat absorption is not achieved decreases enzyme inactivation by gastric acid and improves delivery of lipase into the intestine enteric-coated preparations- protects lipase from acid inactivation.
Untoward effects occurs 712 mo after high-dose pancreatic supplement therapy (ranging from 6,500 to 58,000 IU lipase/kg/meal). allergic reactions increased uric acid levels and kidney stones Fibrosing colonopathy- colonic fibrosis and strictures
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