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PP-116 Diagnosis of purine metabolism disorders in children
  1. Tatiana Privalova1,
  2. Tatiana Privalova2,
  3. Iuliia Khen1,
  4. Iuliia Khen2,
  5. Anastasia Dudina1,
  6. Elizaveta Leonova1,
  7. Elizaveta Leonova2,
  8. Snezhana Timoshkova1,
  9. Snezhana Timoshkova2
  1. 1Pediatric and Child Health Research Institute Russian SCS named after Academician B.V. Petrovsky, Moscow, Russia
  2. 2Pirogov Russian National Research Medical University, Moscow, Russia


Aim To show the importance of qualitative anamnesis collection for the detection of diseases associated with purine metabolism disorders using the example of a clinical case.

Material and Method The analysis of the child’s medical history, clinical examination of the patient, laboratory tests, ultrasound of the kidneys and bladder were carried out.

Results During the season of acute respiratory virus infection (ARVI) mother with a 3-year-old boy consulted a pediatrician with complaints of child’s severe weakness, food refusal, single vomiting and loose stools, fever up to 38°C and increased nervous excitability. Physical examination: the child is lethargic, wants to sleep, there was no evidence for ARVI. The others indicators of systems of organs were in line with the age norm. Family history: maternal grandmother has a urolithiasis. Urates and calcium oxalates were detected in the clinical urine analysis, uric acid - 628 mmol/l in the biochemical blood test (reference limits 100–282), ultrasound of the kidneys: bilateral pyelectasis.

Conclusions Since the beginning of the last century, groups with anomalies of constitution (diathesis) have been identified during annual check-up of children, among them no more than 10% were children with neuro-arthritic diathesis, which is a predisposition to the formation of diseases associated with impaired mineral metabolism. In the last 20–30 years, the focus has shifted to the treatment of diseases, and this issue is rarely and controversially covered in modern literary sources. The determination of uric acid is not included in the algorithm of examination of children. Due to the recent increased cases of early and preschool age children treatment with the signs of purine metabolism disorder, it is necessary to draw the attention of pediatricians to this problem and to take into account family history data, uric acid levels during the examination of patients aged from 1 to 7 years (especially with anamnesis of increased nervous excitability).

  • purine metabolism disorders
  • uric acid
  • anomalies of constitution
  • neuro-arthritic diathesis

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