Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

CINCA syndrome is an autoinflammatory syndrome characterized by neonatal onset of urticarial rash, central nervous system lesions and arthropathy. Laboratory findings show leucocytosis, anemia, elevation of CRP levels and acceleration of ESR. The syndrome is associated with CIAS1 gene and its encoding protein cryopyrin. The CIAS1 gene is expressed in monocytes, polymorphonuclear cells and chondrocytes. Mutations of cyropyrin lead to the persistent production of IL-1beta and activation of NF-kappaB, followed by excessive inflammtory reactions. In spite of aggressive therapies, the inflammation persists and the lesions are progressive. Recently, there have been reports of clinical improvement using human recombinant IL-1 receptor antagonsist anakinra in the patients with CINCA syndrome and its related diseases, Muckele-Wells syndrome and familial cold-autoinflammatory syndrome, suggesting that IL-1beta plays an important role in the pathogensis of the inflammation associated with the CIAS1 gene mutations. No serious adverse reaction of anakinra has not been reported. Following the diagnosis of CINCA syndrome, anakinra therapy should be started as the first line of therapy before irreversible disabilities develop. Treatment with anakinra has just begun, therefore, it is necessary to carry out further investigations concerning the adverse effects of anakinra and long-term prognosis for CINCA syndrome treated with anakinra.
 ...
PMID:[Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. 1747 13

CINCA/NOMID is an autoinflammatory disorder characterized by the triad of neonatal onset of cutaneous symptoms, chronic meningitis, and recurrent fever and it presents with distinctive osteoarthropathy, synovitis mainly of the large joints and overgrowth of epimetaphyseal cartilage, particularly of the long bones. The cartilage overgrowth eventually causes osseous overgrowth and deformity that persists beyond skeletal maturity and leads to limb length discrepancy, joint contracture, and early degenerative arthropathy. Autoinflammation in CAPS/NOMID has been proven to derive from excessive release of interleukin-1 (IL-1). It has been well documented that the IL-1 receptor antagonist anakinra (Kineret(R)) helps mitigate systemic inflammation in the disorder. However, a general consensus has not been reached on its beneficial effect on osteoarthropathy. The case of a girl with CINCA/NOMID syndrome who showed dramatic improvement of osteoarthropathy after anakinra treatment is reported. A 4-year-old girl suffered at the age of 10 months from a generalized urticarial skin lesion with recurrent episodes of fever and growth disorder. Blood examination revealed persistent massive neutrophilia, anemia and intense acute phase response. She manifested knee joint swelling with limited ROM when she was 20 months old and was diagnosed as being CINCA/NOMID based on characteristic findings of radiograph despite negative CIAS1 mutation. Radiological examination demonstrated metaphyseal fraying and cupping and widening of the growth plate in the distal femur. MR imaging showed mottled gadolinium enhancement at the chondrosseous junction. Neither significant joint effusion nor synovitis was identified. At 2 years and 7 months of age, anakinra, 2 mg/kg/day given by regular daily subcutaneous injections, was started. A few days after the initiation of the treatment, her clinical symptoms and laboratory findings of active inflammation were promptly alleviated. She was not able to walk unaided prior to the treatment, but she walked independently 1 month after the treatment. Follow-up radiographs and MR imaging showed that growth plate widening and gadolinium enhancement at the chondrosseous junction were less conspicuous. Furthermore, longitudinal growth of the femur and tibia was identified during 20 months of observation.
 ...
PMID:Effect of anakinra on arthropathy in CINCA/NOMID syndrome. 2023 Jun 45