Abstract | BACKGROUND: PATIENTS AND METHODS: RESULTS: Children experienced their first febrile episode at the age of 24.5±5.9 months (mean±SD), the clinical diagnosis of PFAPA syndrome was established with delay at 42.7±11.7 months. The duration of febrile episodes was 3.4±0.2 days, the asymptomatic interval between them lasted 5.4±0.9 weeks. Accompanying symptoms included pharyngitis (92.8%), cervical lymphadenitis (85.7%), aphthous stomatitis (21.4%), arthralgia (14.3%) and skin erythema (35.7%). Neither mevalonic aciduria nor MVK gene mutations were found in any of the subjects, however, unexpectedly, increased plasma IgD (322.2±29.2 U/l) levels were detected in all patients. CONCLUSION: Raised IgD levels may represent a non-specific epiphenomenon, which frequently accompanies PFAPA syndrome as well as MKD. Because of the overlapping clinical and laboratory features, genetic testing of the MVK gene is indicated to differentiate these two conditions, if clinical criteria for both are fulfilled.
|
Authors | Laszlo Kovacs, Anna Hlavatá, Marián Baldovič, Ema Paulovicova, Tomas Dallos, Zuzana Fehérvízyová, Ludovít Kadasi |
Journal | Neuro endocrinology letters
(Neuro Endocrinol Lett)
Vol. 31
Issue 6
Pg. 743-6
( 2010)
ISSN: 0172-780X [Print] Sweden |
PMID | 21196927
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Immunoglobulin D
- Mevalonic Acid
|
Topics |
- Arthralgia
(diagnosis, immunology)
- Child, Preschool
- Cohort Studies
- Diagnosis, Differential
- Erythema
(diagnosis, immunology)
- Exanthema
(diagnosis, immunology)
- Female
- Fever
(blood, genetics, immunology)
- Genotype
- Humans
- Immunoglobulin D
(blood)
- Infant
- Lymphadenitis
(diagnosis, immunology)
- Male
- Mevalonate Kinase Deficiency
(diagnosis, genetics)
- Mevalonic Acid
(urine)
- Pharyngitis
(diagnosis, immunology)
- Stomatitis, Aphthous
(diagnosis, immunology)
- Syndrome
- Time Factors
|