Abstract
Alagille syndrome (AGS) is often associated with symptoms of maldigestion, such as steatorrhea, hypotrophy and growth retardation. Exocrine pancreatic insufficiency was proposed as the underlying cause. We aimed to assess the exocrine pancreatic function with the use of different methods in AGS patients. Concentrations of fecal elastase-1 (FE1) and fecal lipase (FL) activities were measured in 33 children with AGS. The C-mixed triglyceride breath test (MTBT) in a subgroup comprising 15 patients. In all patients studied, FE1 concentrations and FL activities were normal. Abnormal MTBT results were documented in 4 (26.7%) patients. The FE1 and FL levels in MTBT-positive and MTBT-negative children did not differ. The results of this research do not confirm the presence of exocrine pancreatic dysfunction in AGS patients. Routine screening for exocrine pancreatic insufficiency of this group of patients is not necessary.
Highlights
Alagille syndrome (AGS) is often associated with symptoms of maldigestion, such as steatorrhea, hypotrophy and growth retardation
Kamath et al.[6] documented that the fecal elastase-1 (FE1) concentration was normal in the vast majority of 42 subjects with AGS6
FE1 concentrations and fecal lipase (FL) activities did not differ between subgroups of subjects with normal and abnormal mixed triglyceride breath test (MTBT) results (Fig. 1)
Summary
Alagille syndrome (AGS) is often associated with symptoms of maldigestion, such as steatorrhea, hypotrophy and growth retardation. The disease has five major features: chronic cholestasis secondary to the paucity of intrahepatic bile ducts, cardiovascular abnormalities mainly affecting the pulmonary outflow tract, skeletal defects (most frequently butterfly vertebrae), ophthalmologic anomalies (most often posterior embryotoxon) and characteristic facial features These are often accompanied by other minor symptoms, such as renal and intracranial vascular problems, hypercholesterolemia and growth retardation. The presence of pathology in the pancreas seems likely in view of the well-established expression of the JAG1/Notch signaling pathway genes in this organ[5] Despite these findings, cited in consecutive papers, no guidelines concerning the necessity to screen for exocrine pancreatic insufficiency or enzyme supplementation in AGS patients have been developed. In a subset of patients, we determined the biological effects of exocrine pancreatic secretion using the stable isotope breath test – mixed triglyceride breath test
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