Особенности дифференциальной диагностики нарушений обмена углеводов и жирных кислот у детей

Abstract

The purpose of presenting clinical observations is to demonstrate the differential diagnosis of metabolic diseases using clinical cases of carbohydrate and fat metabolism disorders as examples. Main points. Patient observation, analysis of the case histories of two patients with Hirke's disease and long-chain acyl-CoA fatty acid dehydrogenase deficiency, LCHADD, OMIM#609016). Patients aged 5 and 10 months were admitted to the clinic in a severe condition due to the lack of effect of outpatient treatment. Both children had hepatomegaly, with fibrosis stage F-0 according to METAVIR. In Hirke's disease there were diffuse changes in the liver, increased size of the kidneys, changes in their parenchyma, in the case of fat metabolism pathology the liver echostructure was homogeneous and uniform. The girl had diffuse repolarization abnormalities on ECG, the boy had delayed conduction along the right Giss bundle. Neurosonography showed residual posthypoxic changes in the girl (history of cerebral edema at the onset of the disease, sepsis, infectious-toxic shock, glycogenosis type 1a), venous dyscirculation. Both children's condition was stable and severe in the course of treatment. Conclusion. Peculiarities of the diseases caused by metabolic disorders are polymorphism of clinical manifestations, which causes difficulties of diagnostic search as well as timely selection of effective therapy. Key words: Hirke's disease, deficiency of long-chain 3-hydroxy acyl-CoA fatty acid dehydrogenase