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P180 The impact of genetic factors in kidney malformations in children
  1. Lazăr Viorica,
  2. Lazăr Dorin,
  3. Horga Adeline Larisa
  1. ’Vasile Goldiş’ Western University of Arad

Abstract

The incidence of congenital malformations of kidney and urinary tract pathology child is high, it represents a public health problem. Renal and urinary pathology in children ranks 3rd after respiratory and digestive pathology.

Early diagnosis of renal anomalies in children, associated with urinary tract infection, enables the targeted treatment, avioiding renal scarring, early surgical approach of kidney malformations and preventing renal failure.

Kidney malformations are common causes of chronic renal failure in infants and small children, molecular pathogenesis is only little known. In animal experiments, the main cause of kidney malformations are chemical causes mutations, teratogenic pharmaceuticals. This review was done experimentally made to take into account the complexity of mutations and other changes in expression of the genes involved in kidney malformations in humans. These disorders are associated with multiple congenital anomalies in several organ systems.

Emergence of different phenotypes and family aggregation, demonstrates that there are genetic causes for the occurrence of kidney malformations. Their complex character is given by the phenotypic variability among family members with the same defect in a single gene with viariable expression, from structural abnormalities in asymptomatic chronic renal failure.

Further research in the field of molecular involved kidney development will help to identify new methods of diagnosis and at the same time will allow new therapeutic approaches.

  • genetic diagnosis
  • kidney malformations
  • early diagnosis
  • familial aggregation
  • phenotype

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