Table 2 Comparison of clinical features among AGS, soJIA, and CINCA
From: Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect
Clinical features | Our Patient | |||
|---|---|---|---|---|
Onset within the first year of life | no | common | rare | common |
Fever | frequently often | rare | common | common |
Preserved or normal intelligence | yes | less common | yes | less common |
Mental retardation | no | common | rare | common |
Joint swelling | yes | rare | common | common |
Arthralgia | yes | rare | common | common |
Destructive arthritis | no | rare | common | common |
Chilblains | yes | common | NR | rare |
Urticarial rash | no | rare | less common | common |
Salmon-pink rash | no | rare | common | less common |
Conjunctivitis | no | none | less common | common |
Visual damage | no | less common | rare | common |
Sensor neural deafness | no | rare | NR | common |
Progressive chronic meningitis | no | rare | NR | common |
Auto-inflammatory manifestations | yes | less common | common | common |
Auto-immune manifestations | no | common | rare | none |
Severe intra-uterine growth retardation | no | common | NR | rare |
Microcephaly | no | common | NR | rare |
Psychomotor retarded | not obvious | common | rare | common |
Feeding difficulties | no | common | NR | less common |
Growth retardation | yes | common | less common | common |
Hepatosplenomegaly | no | common | common | common |
Cerebral atrophy | milder | common | NR | common |
White matter abnormalities | yes | common | NR | less common |
Intracranial calcification | yes | common | NR | none |
Chronic kidney disease | yes | none | rare | common |
Renal amyloidosis | not yet | none | rare | common |
Leukocytosis | no | rare | common | common |
C-reactive protein | significantly elevated | rare | significantly elevated | significantly elevated |
Erythrocyte sedimentation | significantly elevated | less common | significantly elevated | significantly elevated |
Ferritin | normal | normal | significantly elevated in MAS | significantly elevated in MAS |
Triglycerides | normal | normal | elevated in MAS | elevated in MAS |