We aimed to comprehensively analyse the available literature to identify the unmet requirements in transitional programs tailored specifically for patients diagnosed with JIA.
Comment on: Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever Ayşe Tanatar, Ayşe Tanatar Department of Pediatric Rheumatology, Istanbul University Medical School, Istanbul, Turkey https://orcid.org/0000-0002-1386-4575 Search for other works by this author on: Oxford Academic PubMed Google Scholar Hafize Emine Sönmez, Hafize Emine Sönmez Department of Pediatric Rheumatology, Kocaeli University, Istanbul, Turkey Search for other works by this author on: Oxford Academic PubMed Google Scholar Betül Sözeri, Betül Sözeri Department of Pediatric Rheumatology, University of Health Sciences, Ümraniye Research and Training Hospital, Istanbul, Turkey Search for other works by this author on: Oxford Academic PubMed Google Scholar Nuray Aktay Ayaz Nuray Aktay Ayaz Department of Pediatric Rheumatology, Istanbul University Medical School, Istanbul, Turkey Correspondence to: Nuray Aktay Ayaz, Department of Pediatric Rheumatology, Istanbul University Medical School, Fatih, Istanbul, Turkey. E-mail: nurayaktay@gmail.com Search for other works by this author on: Oxford Academic PubMed Google Scholar Rheumatology, Volume 60, Issue 8, August 2021, Pages e294–e295, https://doi.org/10.1093/rheumatology/keab205 Published: 02 March 2021
Mollaret's meningitis is a rare clinical entity characterized by sudden onset of meningeal irritation attacks. In almost all cases, an etiological agent could not be demonstrated and there is no specific therapy for the disease. In this report, an 11 year old girl who had meningitis attack for 9 times in the last 5 years is presented.iJournal of Turgut Ozal Medical Center I(2): 154-155.1994 / Key words: Child. Mollaret 's meningitis, recurrent aseptic meningitis
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by ADA2 mutations.
Objectives
We aimed to investigate the characteristics of DADA2 patients along with the ADA2 enzyme levels.
Methods
24 DADA2 patients who admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and Pediatric Immunology Departments were included. All exons of the ADA2 gene were screened by Sanger sequencing in all DADA2 patients. Serum ADA2 enzyme activity was measured by modified spectrophotometric method.
Results
24 DADA2 patients were included; Group 1, 14 DADA2 patients with polyarteritis nodosa (PAN)-like phenotype; Group 2, 9 patients with Diamond-Blackfan anemia (DBA)-like features and one with immune deficiency. 14 PAN-like DADA2 patients did not have the typical thrombocytosis seen in classical PAN. Inflammatory attacks were evident in only Group 1 patients. Serum ADA2 was low in all DADA2 patients except one who was tested after hematopoietic stem cell transplantation. There was no significant difference in ADA2 levels between PAN-like and DBA-like DADA2 patients (Figure 1). ADA2 activities of heterozygote family members were about half the level of the control subjects. However, in heterozygote DADA2 patients, serum ADA2 levels were as low as the ones of homozygote DADA2 patients. ADA2 mutations were affecting the dimerization domain in Group 1 patients and in the catalytic domain in Group 2 patients (Table 1).
Conclusion
We suggest that enzyme activity of ADA2 should be assessed along with genetic analysis since there are heterozygote patients with absent enzyme activity. Our data confirms a possible genotype phenotype correlation where dimerization domain mutations are associated with a PAN-like phenotype whereas catalytic domain mutations are associated with hematological manifestations.
References
[1] Navon Elkan P, et al. Mutant ADA2 in a PAN vasculopathy. N Engl J Med 2014;370(10):921-931 [2] Zhou Q, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014;370(10):911-920
Acknowledgement
This study was supported by Scientific and Technological Research Council of Turkey (TÜBITAK) with grant numbers of 315S192. Prof. Nurten Akarsu performed the molecular studies of DBA patients and special thanks to her for great support.
Juvenile idiopathic arthritis (JIA), is the most common pediatric rheumatologic disorder with unknown etiology. Currently, no population-based data are available regarding the distribution of categories and frequency of uveitis in patients with JIA in Turkey. The purpose of this study was to evaluate the frequency of JIA-associated uveitis (JIAU) and distribution of JIA categories in a Turkish JIA cohort.This was a retrospective study of 500 randomized patients in four pediatric rheumatology clinics in Turkey.Oligoarticular JIA (oJIA) was the most common JIA disease category in this study cohort (38.8%). The frequencies of the other categories were as follows: enthesitis-related arthritis (ERA), 23.2%; rheumatoid factor (RF)-negative polyarthritis, 15.6%; systemic arthritis, 12.2%; juvenile psoriatic arthritis, 5.2%; undifferentiated arthritis, 2.8%; and RF-positive polyarthritis, 2.2%. JIA-associated uveitis was observed in 6.8% of patients at a mean (Standard Deviation, SD) age of 9.1 (3.8) years over a mean JIA disease duration of 4 (1.9) years. Uveitis developed after joint disease, with a mean (SD) duration of 1.8 (1.9) years. Patients with oJIA had the highest rate of uveitis (12.9%) followed by patients with ERA (5.2%) and polyarticular RF-negative disease (3.8%). Compared with persistent oJIA, the extended oJIA category had a > 3-fold higher risk of uveitis (11.3% vs 27.7%; odds ratio, 3.38 [95% Confidence Interval, 1.09-10.4]). The most frequently administered drug after development of uveitis was tumor necrosis factor-alpha inhibitors (38.2%). Five patients (14.7%) had uveitis-related complications that required surgical intervention.Turkish pediatric patients with JIA experience a lower frequency of oJIA and higher frequency of ERA than their white European counterparts; the occurrence of uveitis is also somewhat lower than expected. Geographic and ethnic factors may affect these differences and need further investigation.
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