Liver, Pancreas, and Biliary TractChronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation☆,☆☆
Section snippets
DNA analysis
After written informed consent was obtained from the subjects, leukocyte DNA was extracted from anticoagulated blood specimens using the QIAamp DNA Blood Mini Kit (Qiagen, Hilden, Germany). DNA was stored in Tris-EDTA buffer (pH 8.0) at 4°C. Exons of the cationic trypsinogen were amplified by polymerase chain reaction (PCR), as described recently.8 Cycling conditions consisted of an initial 2-minute denaturation step at 94°C followed by 35 cycles at 94°C for 20 seconds, 61°C for 30 seconds, and
Family characteristics
A 22-year-old patient (subject III-2 in Figure 1) had experienced episodes of abdominal pain since his first year of life.When he was 8 years old, acute pancreatitis was diagnosed; during the following years, he was hospitalized several
Discussion
Mutations of the cationic trypsinogen in hereditary pancreatitis have been identified in North America, Europe, and Japan.2, 3, 4, 9 The point mutation D22G we describe is the first one detected in a family from Eastern Europe. Diagnosis of hereditary pancreatitis in this family may be questioned because only 2 members were affected with the disease and 1 individual with the mutation has been healthy up to now. However, we have clinical evidence of chronic disease in other relatives. In
Acknowledgements
The authors thank Susanne Kistner for expert technical assistance.
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Address requests for reprints to: Volker Keim, M.D., Medizinische Klinik und Poliklinik II, Universität Leipzig, Philipp-Rosenthal-Strasse 27, D-04103 Leipzig, Germany. e-mail: [email protected]; fax: (49) 341-97-12-209.
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Supported in part by grant Ke 347/8-1 from the Deutsche Forschungsgemeinschaft.