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Thrombocytopenia with no radial bone (TAP syndrome)

 
, medical expert
Last reviewed: 23.04.2024
 
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Syndrome TAP - Thrombocytopenia, Aplasia, Radial.

What causes thrombocytopenia with lack of radius?

Autosomal recessive disease.

Symptoms of thrombocytopenia with a lack of radius

The main signs are neonatal thrombocytopenia, congenital defects of the radius. Congenital malformations of the kidneys and heart are common.

Diagnosis of thrombocytopenia with absence of radius

Diagnostic criteria:

  • neonatal thrombocytopenia;
  • bilateral congenital defect - aplasia or hypoplasia of the radius with preservation of the first finger of the hand.

trusted-source[1], [2], [3], [4], [5], [6]

Who to contact?

Treatment of thrombocytopenia with absence of radius

When thrombocytopenia is absent, the proteins of cow milk can be considered a kind of allergen that causes severe thrombocytopenia with a high mortality (60%), which is a consequence of the morphological or functional inferiority of the megakaryocytes of the bone marrow, characteristic for this disease. Surgical interventions also become a stressor that causes thrombocytopenia.

Features of patient management:

  • A special diet is the exclusion of cow's milk for the prevention of severe thrombocytopenia.
  • Up to 5 years of age, planned surgical interventions are contraindicated (the risk of thrombocytopenia is high).
  • When performing surgical interventions, a fresh blood platelet must be transfused (compliance with immunological compatibility!).

More information of the treatment

Forecast

Mortality with neonatal thrombocytopenia is 60%. In the absence of intracranial hemorrhages, the intellect does not suffer.

trusted-source[7]

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