New insights into juvenile parotitis

AbstractAim: We enquired about the possibility of a familial trend in juvenile parotitis and evaluated the role of SPINK1 mutations in juvenile parotitis.Methods: The clinical records of all children admitted to the Helsinki University Hospital during 1995 to May 2003 because of swelling in the parotid gland were reviewed. A questionnaire on possible recurrences and on familial cases was mailed. As disturbances in trypsin inhibition might be involved in the pathogenesis, we assessed the SPINK1 gene encoding for Kazal‐type trypsin inhibitor in voluntary patients. The study group comprised 133 children (boys 82 girls 51) with juvenile parotitis. The median age at presentation of first symptoms was 6.0 y (range 1–19 y).Results: Recurrent symptoms in the parotid gland were common (57%), and 29% of the children (38/133) had suffered from four or more episodes. A young age at the first episode of symptoms increased the likelihood of recurrences (p < 0.0001). Familial cases of parotid swelling were common (22%; response rate 67%). A total of 47 patients (35%) agreed to testing for SPINK1 status. Four children had a major mutation (N34S or P55S), corresponding to an 8.5% (4/47) prevalence, but this was not different from the controls (5%).Conclusion: It is likely that inherited factors are involved in the manifestation of juvenile parotitis in a subset of patients. It is tempting to speculate that disturbed proteolytic balance may play a role in the development of symptoms.