Exocrine Pancreatic Function in Children with Progressive Familial Intrahepatic Cholestasis Type 2

University of Kuopio, Kuopio, Northern Savo, Finland
Journal of Pediatric Gastroenterology and Nutrition (Impact Factor: 2.63). 05/2006; 42(4):416-8. DOI: 10.1097/01.mpg.0000218154.26792.6a
Source: PubMed


In progressive familial intrahepatic cholestasis type 2 (PFIC-2), severe steatorrhea is often documented. However, pancreatic exocrine secretion has not yet been studied. In 14 children with PFIC-2, pancreatic function was assessed using standard fecal tests. Normal fecal lipase concentrations excluded isolated lipase deficiency. No differences in fecal elastase-1 concentrations and chymotrypsin activities were detected between PFIC-2 patients with or without steatorrhea, nor between these patients and healthy subjects. In conclusion, pancreatic exocrine function in patients with PFIC-2 is normal. Steatorrhea observed in those patients is not related to pancreatic insufficiency.

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    • "The BSEP effect is specific for SRC-2, since its expression was not affected by SRC-1 or SRC-3 deletion (Fig. S3A), demonstrating the specificity of coactivator function in vivo. Particularly as BSEP deficiency in humans is accompanied by severe steatorrhea (Walkowiak et al., 2006), the deficit in BSEP expression likely explains fat malabsorption in SRC-2 LKO mice. "
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    • "In contrast BSEP is expressed primarily in the liver. Thus, BSEP disease has few if any primary extrahepatic manifestations, and exocrine pancreatic function is thought to be normal [17]. Despite the fact that hepatocytes are the only cells in the body that have BSEP expression [18], there is embryologic evidence for homology in pancreas and liver cells. "
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    • "However, diminished exocrine pancreatic secretion could also be an underlying or contributing factor. Recently, we have clearly demonstrated that pancreatic secretion in PFIC type 2 patients as measured by fecal indirect test is normal (Walkowiak et al., 2006). However, this does not preclude damage of the pancreatic tissue. "
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    ABSTRACT: High prevalence of elevated serum pancreatic enzymes in children with cholestasis with normal fecal elastase-1 concentrations has been documented. However, this state is related predominantly to biliary atresia. Therefore, we aimed to assess pancreatic damage by measuring serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2 (PFIC type 2). Twenty PFIC type 2 patients with normal serum bilirubin and bile acid concentrations were included in the study. Thirty pancreatic insufficient cystic fibrosis (PI-CF) patients, thirty patients with acute pancreatitis (AP) and thirty healthy subjects (HS) served for the purpose of comparison. In all subjects, serum lipase and elastase-1 levels were measured. In all but one PFIC type 2 patients and all HS normal lipase activities were found. Serum elastase-1 concentrations were normal in all PFIC type 2 patients and HS. The enzyme levels were very similar in both groups studied. Lipase activities in PFIC type 2 patients were significantly higher than in PI-CF patients (p < 0.00001) and lower than in patients with AP (p < 0.00001). Serum elastase-1 levels in PFIC type 2 patients were significantly lower than in patients with AP (p < 0.00001) and not different from those in PI-CF patients. In conclusion. serum pancreatic enzymes in patients with PFIC type 2 are normal. No pancreatic damage in these patients could be detected.
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