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Published on: May 21, 2018
[Analysis of clinical characteristics of 35 inflammasomopathies cases]
1Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Insights
Inflammasomopathies in children often present with recurrent fever and skin rash, alongside elevated inflammatory markers like CRP and ESR. Early diagnosis is crucial due to complex and diverse clinical features, often showing negative autoantibodies.
Area of Science:
- Pediatrics
- Immunology
- Genetics
Background:
- Inflammasomopathies are a group of rare genetic autoinflammatory disorders.
- Early recognition and diagnosis are critical for effective management.
Purpose of the Study:
- To summarize the clinical characteristics of childhood inflammasomopathies.
- To improve disease recognition and facilitate early diagnosis.
Main Methods:
- Retrospective analysis of 35 children diagnosed with inflammasomopathies.
- Inclusion of clinical manifestations, laboratory results, and genotypic data.
- Data collected from January 2008 to December 2020.
Main Results:
- Common symptoms include recurrent fever (97%), skin rash (77%), and skeletal involvement (51%).
- Elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were observed in all patients (100%).
- Specific conditions included Familial Mediterranean Fever, mevalonate kinase deficiency, and NLRP3/NLRP12-associated autoinflammatory diseases.
Conclusions:
- Fever, rash, and skeletal issues are key indicators of inflammasomopathies.
- Increased CRP and ESR, with negative autoantibodies like ANA, are characteristic.
- The diverse clinical spectrum can lead to diagnostic delays.
Abstract:
Objective: To summarize the clinical characteristics of inflammasomopathies, enhance the recognition of those diseases, and help to establish the early diagnosis. Methods: The clinical manifestations including fever, rash, systems involvement as well as laboratory results and genotypic characteristics of 35 children with inflammasomopathies diagnosed by the Department of Pediatrics, Peking Union Medical College Hospital, from January 1, 2008 to December 31, 2020 were analyzed retrospectively. Results: A total of 35 cases of inflammasomopathies were diagnosed, and 20 of them were boys while 15 were girls. Inflammasomopathies patients have early onset, the age of onset as well as diagnostic age were 1 (0,7) and 7 (3,12), respectively. Among those patients, 10 had familial mediterranean fever, 3 had mevalonate kinase deficiency, 15 cases had NLRP3 gene associated autoinflammatory disease, 4 cases had NLRP12-associated autoinflammatory disease, 2 cases had familial cold autoinflammatory syndrome 3, and 1 case had familial cold autoinflammatory syndrome 4. A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes, while 11 cases (31%), 10 cases (29%), and 8 cases (23%) were presented with lymphadenopathy, hepatosplenomegaly and growth retardation, respectively. In terms of systemic involvement, there were 18 cases (51%), 12 cases (34%), 8 cases (23%), and 5 cases (14%) with skeletal, neurological, auditory, and renal involvement, respectively. Central nervous system involvement was seen only in NLRP3 gene associtated autoinflammatory diseases (12 cases), sensorineural deafness was seen in NLRP3 gene associtated autoinflammatory diseases (6 cases) and NLRP12 gene associated autoinflammatory diseases (2 cases), and abdominal pain was observed in familial Mediterranean fever (5 cases), mevalonate kinase deficiency (1 case) and NLRP12 gene related autoinflammatory diseases (1 case). In the acute inflammatory phase, the acute phase reactants (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) of 35 cases (100%) were significantly increased. There were 21 cases received ferritin examination, and only 4 cases (19%) showed an increase of it. In terms of autoantibodies, among all 35 patients, 4 cases (11%) were positive for antinuclear antibodies (ANA). Conclusions: Fever, skin rash, and skeletal manifestations are the most common clinical features, accompanied with increased CRP and ESR, and negative results of autoantibodies such as ANA. The clinical manifestations of those diseases are complex and diverse, and it is prone to delayed diagnosis and treatment.
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