Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome.

We report on a 22-year-old girl with a history of recurrent febrile episodes, chronic arthritis, urticarial rash, and neurological symptoms including right hemiparesis, internal hydrocephalus, mental retardation, progressive deafness, and visual impairment. Treatment starting at age 20 months, including different combinations of immunosuppressive and antiinflammatory drugs such as corticosteroids and anti-TNFalpha antibody, was unsuccessful. Four years ago, we found a heterozygous S595G mutation in the NLRP3 gene of this patient. This prompted us to introduce anakinra, which resulted in considerable improvement of the patient's complaints.

Juvenile idiopathic arthritis-type disease associated with chromosomal aberrations.

The association of certain chromosome aberrations with arthropathy has been previously described, but there is a limited number of reports in the literature. Two children are described, one with 18q- syndrome and another with supernumary marker chromosome 15, both presenting with juvenile idiopathic arthritis-type disease, aggressive progression and moderate response to inflammatory, corticosteroid and immunosuppressive treatment.

The Greek version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ).

We report herein the results of the cross-cultural adaptation and validation into the Greek language of the parent's version of 2 health related quality of life instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific health instrument that measures functional ability in daily living activities in children with juvenile idiopathic arthritis (JIA). The Child Health Questionnaire (CHQ) is a generic health instrument designed to capture the physical and psychosocial well-being of children independently from the underlying disease. The Greek CHAQ CHQ were fully validated with 3 forward and 3 backward translations. A total of 143 subjects were enrolled: 82 patients with JIA (28% systemic onset, 24% polyarticular onset, 10% extended oligoarticular subtype, and 38% persistent oligoarticular subtype) and 61 healthy children. The CHAQ clinically discriminated between healthy subjects and JIA patients, with the systemic, polyarticular and extended oligoarticular subtypes having a higher degree of disability, pain, and a lower overall well-being when compared to their healthy peers. Also the CHQ clinically discriminated between healthy subjects and JIA patients, with the systemic onset, polyarticular onset and extended oligoarticular subtypes having a lower physical and psychosocial well-being when compared to their healthy peers. In conclusion the Greek version of the CHAQ-CHQ is a reliable, and valid tool for the functional, physical and psychosocial assessment of children with JIA.

Juvenile chronic arthritis profile in Greek children.

BACKGROUND: Juvenile chronic arthritis (JCA) is the commonest autoimmune rheumatic disease in childhood and presents different clinical subtypes. Juvenile chronic arthritis is considered to be of a polygenic nature and its genetic background is still under investigation. The clinical profile of JCA in the Greek population has not been studied completely. This study retrospectively analyzed the clinical and immunological features of JCA in Greek children presented between 1989 and 1994. Human leukocyte antigen (HLA)-positive or -negative associations in the different clinical subtypes were also detected. The findings of this study were correlated with those reported from other populations. METHODS AND RESULTS: Antinuclear antibodies (ANA) anti-ds DNA and anti-extractable nuclear antigen antibodies were estimated by immunofluorescent and ELISA assays. Human leukocyte antigen typing was performed by microlymphocytotoxicity, using immunobeads. The peak ages of JCA onset were between 2 and 5 years and also between 9 and 12 years. There was a high female predominance in pauciarticular and polyarticular groups. The most common disease was pauciarticular (58.7%) followed by systemic (25%) arthritis. The incidence of eye involvement was 12.5% and presented only in the pauciarticular group. Overall, ANA positivity was 53.7%, increasing to 90% in pauciarticular cases associated with chronic uveitis. In the early onset (EOPA) pauciarticular subtype, positive-HLA associations with alleles DR11 and DR8 were shown. In the late onset pauciarticular (LOPA) group only B27 allele was increased. CONCLUSIONS: The results of this retrospective study did not reveal major differences between JCA in Greek children compared with other Caucasian series.

Glomerular microproteinuria in children treated with non-steroidal anti-inflammatory drugs for juvenile chronic arthritis.

The urinary excretion of selected glomerular (albumin, transferrin, and IgG) and tubular (alpha 1-microglobulin) protein and enzyme (N-acetyl-beta-D-glucosaminidase) markers was studied in 36 patients with juvenile chronic arthritis in order to investigate whether children receiving therapeutical doses of non steroidal antiinflammatory drugs (NSAIDs) and without clinical signs of gross renal dysfunction provide evidence of sub-clinical renal injury. Forty-seven age-matched healthy children as well as nine children with juvenile chronic arthritis but without NSAID therapy served as control groups. Although there was no difference between patients and controls regarding the serum creatinine and urea nitrogen levels, the urinary excretion of all three glomerular markers was significantly elevated in the patient group treated with NSAIDs (p < 0.001). In contrast, there was no difference between patients and controls concerning the urinary excretion of both tubular markers. Furthermore, no correlation was found between protein and enzyme excretion and the onset type, duration or activity of the underlying disease. Taken together, these data indicate that patients receiving NSAIDs display signs of glomerular dysfunction concerning the handling of plasma proteins. The systematic assessment of urinary protein- and/or enzyme-excretion may constitute a useful tool for the early detection and monitoring of otherwise subclinical renal injury in patients treated with NSAIDs.

Arthritis and vasculitis during the incubation period of varicella.

Arthritis and vasculitis are very rare complications of varicella occurring almost exclusively after the eruption of the characteristic rash. We report two children, aged three and seven years, who developed vasculitis and polyarthritis (patient No. 1) and arthritis (patient No. 2) 13 and 9 days, respectively, before the onset of their typical varicella. Arthritis and vasculitis so early in the incubation period of varicella have not been described previously. In all previously reported cases the arthritis occurred after or together with the onset of varicella and only in one instance preceded the exanthem by 2 days. Although this may have been an unfortunate coincidence, an association between varicella zoster virus and these manifestations should be seriously considered. Clinicians confronted with such cases must be cautious and search for varicella infection, especially in times of epidemics.