Clinical studyClinical characterization of patients with hereditary pancreatitis and mutations in the cationic trypsinogen gene☆
Section snippets
Nomenclature
There has been confusion concerning the nomenclature of the trypsinogen mutations because of the two different schemes (chymotrypsin and trypsin systems) in use. For clarity and in accordance with recent recommendations 22, 23, only the trypsin nomenclature is used. Thus, N21I is called N29I, and R117H is called R122H.
Laboratory techniques
We analyzed more than 550 blood samples that were sent to our referral center for analysis of cationic trypsinogen gene mutations in patients who had chronic pancreatitis of
Results
Of more than 550 patients with suspected hereditary pancreatitis, 6 with the N29I mutation and 21 with the R122H variant were identified. A family history of chronic pancreatitis was evident in all 27 patients. We received blood samples from 52 relatives of the N29I patients and from 96 relatives of the R122H patients. A complete set of clinical data was available from a total of 25 subjects with the N29I mutation and from 76 subjects with the R122H mutation who are included in this report.
Discussion
We evaluated the clinical characteristics of patients with hereditary pancreatitis associated with the two trypsinogen variants N29I and R122H, as well as those of their relatives. Our estimate of about a 78% penetrance is consistent with prior estimates of about 80% 1, 8. Most subjects with the mutations were asymptomatic or had mild disease, although the scoring system that we used for chronic pancreatitis has not been validated.
Based on the number of relatives or affected subjects, the R122H
Acknowledgements
We thank Susanne Kistner for her expert technical assistance. The help of the patients affected by the disease and their physicians are acknowledged. The following colleagues in Germany contributed to the study: R. Becker (Kempten), C. Behnen (Sögel), M. Bertele (München), R. Geyer (Rückersdorf), K. Jobke (Rückersdorf), S. Koletzko (München), E. Pahlov-Nejad (Emsbüren), H. J. Peters (Sögel), R. Renz (Weiden), and M. Rünzi (Essen).
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Supported in part by Grant Ke 347/8-1 from the Deutsche Forschungsgemeinschaft.