New insights into juvenile parotitis.
OBJECTIVE
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%).


CONCLUSIONS
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.
Kolho
Kaija-Leena
KL
Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland. kaija-leena.kolho@hus.fi
Saarinen
Riitta
R
Paju
Annukka
A
Stenman
Jacob
J
Stenman
Ulf-Håkan
UH
Pitkäranta
Anne
A
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000704:Analysis of Variance; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D010309:Parotitis / Q000453:epidemiology* / Q000235:genetics*; D011110:Polymorphism, Genetic; D012008:Recurrence; D018709:Statistics, Nonparametric; D013548:Sweden / Q000453:epidemiology; D014359:Trypsin Inhibitor, Kazal Pancreatic / Q000235:genetics
D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic