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New insights into juvenile parotitis
Kaija-Leena Kolho1, Riitta Saarinen, Annukka Paju
1Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland. kaija-leena.kolho@hus.fi
Insights
Juvenile parotitis often recurs and may have a familial component, suggesting inherited factors play a role. SPINK1 gene mutations were not found to be a significant cause in this study.
Area of Science:
- Pediatric Otolaryngology
- Genetics
- Immunology
Background:
- Juvenile parotitis is characterized by parotid gland swelling in children.
- Recurrence and familial aggregation suggest potential underlying genetic or inherited factors.
Purpose of the Study:
- To investigate the familial trend in juvenile parotitis.
- To evaluate the role of SPINK1 gene mutations in the pathogenesis of juvenile parotitis.
Main Methods:
- Retrospective review of clinical records for children with parotid gland swelling.
- Questionnaire survey for recurrence and familial cases.
- SPINK1 gene mutation analysis (N34S, P55S) in affected children.
Main Results:
- Recurrent parotid gland symptoms were observed in 57% of children, with 29% experiencing four or more episodes.
- Familial cases of parotid swelling were reported in 22% of families.
- No significant difference in SPINK1 mutation prevalence was found between patients (8.5%) and controls (5%).
Conclusions:
- Inherited factors likely contribute to juvenile parotitis in a subset of patients.
- Disturbed proteolytic balance may be implicated in symptom development.
- SPINK1 mutations are not a primary cause of juvenile parotitis.
Aim:
We inquired 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.
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