Metabolic disorders: from syndrome to the rare disease

Written by Vasilyeva T.G.

  UDK: 616-056.7-06:616-008.9 | Pages: 95–97 | Full text PDF | Open PDF 


Presented three clinical cases of congenital, genetically determined diseases in children with the analysis of the diagnostic search. For verification of Wilson's disease it took more than 1.5 years of the survey and follow-up in different specialists. The presence of additional infectious factors complicated the diagnosis. Analysis of the case calls for the inclusion of children in the survey with standard hepatitis of unknown etiology copper metabolism markers. Analysis of the patient's other diseases suggests that rectal prolapse - a condition requiring the exclusion of cystic fibrosis, even when there is no neonatal screening and respiratory history. The third case shows that the combination of pronounced intrahepatic cholestasis with malformations of the skeletal system, the heart, the organ of vision and phenotypic features requires the exclusion of Alagille syndrome.

Links to authors:

T.G. Vasilyeva
Regional Clinical Center of Specialized Types of Medical Care (30/37 Uborevicha St. Vladivostok 690091 Russian Federation)


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