DADA2 (Juvenil Polyarteritis Nodosa) 4.5/5 (2)

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DADA2

Livedo reticularis (marbling) at DADA2. Caorsi R, 2016. CC BY 4.0

DADA2 (Deficiency of adenosine deaminase 2). Previously: Juvenile Polyarteritis nodosa

Definition

DADA2 (Deficiency of adenosine deaminase 2) is a systemic vasculitis that starts in childhood, caused by hereditary (autosomal recessive) gene defect or mutation in the CECR1 gene on chromosome 22q11. This causes reduced production of the adenosine deaminase 2 protein which affects bone marrow cells.

  • The disease was previously characterized as “Juvenile Polyarteritis nodosa”On the basis that several of the symptoms are similar to the otherwise adult-onset form

In 2014, however, the cause of the disease became known and the name changed. The disease can now be classified as one autoinflammatory disease / periodic fever syndrome. The severity varies.

  • Stroke in childhood can be the first symptom that leads to closer examination and diagnosis

Occurrence

Rare disease of unknown occurrence. Usually affects children under the age of 10. Probably the current focus on the condition will lead to more people being diagnosed in the years to come.

  • The condition can occur among several relatives or by spontaneous mutation
  • It is possible that heterozygous forms occur and then with later onset (into adulthood) and with milder symptoms

Symptoms

  • Fever that varies over time
  • Blood samples showing elevated "inflammatory tests" (ESR and CRP)
  • Muscle pain
  • Stroke
  • Cold, discolored fingers that can become necrotic
  • Some have generally reduced immune response to infections

Skin

  • Significant marbeling
  • Development of wounds with dead tissue (necrosis)
  • Knots (nodules) beneath the skin

Nervous System

Stroke caused by vasculitis and reduced blood circulation in small blood vessels in the brain.

  • Symptoms may include paralysis, uneven movements (ataxia), headache, vision loss, language difficulties (aphasia), affecting mental function

Kidneys

  • Failure of blood supply (occlusion in renal arteries) is described (NOTE! Increasing blood pressure and reduced kidney function)

Medical investigations

  • Fever is measured several times daily over time (fever curve)
  • Enlarged liver and spleen (hepatosplenomegaly)
  • Blood pressure and kidney function
  • Blood circulation to the skin
  • Neurological examination

Blood tests

  • Elevated CRP and sedimentation rate (ESR)
  • Some have low gamma globulin, low white and red blood cells and low platelet count
  • Many develop "Lupus anticoagulant" antibodies over time
  • Genetic test (mutation in the CECR1 gene on chromosome 22q11)

Tissue sample (biopsy)

  • Neutrophil cells and macrophages in the interstitial and perivascular T lymphocytes. "Fibrinoid necrosis"

Incorrect diagnosis (similar conditions / differential diagnoses)

Treatment

The prognosis

Good, provided treatment response and absence of serious complications from the immune system and internal organs

Literature

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)


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