HEREDITARY DISEASES OCCURRING WITH LIVER DAMAGE (LECTURE)
https://doi.org/10.57256/2949-0715-2024-1-78-95
Abstract
Background. Hereditary liver diseases are a serious problem in all age groups. Diagnosis of the hereditary liver disor-ders in many cases turns out to be difficult, and before final diagnosis, the patient can change more than one doctor and lose time, which can lead to a worsening of the disease. Therefore, the issue of timely diagnosis of hereditary liver diseases remains relevant.
The lecture discusses the issues of diagnosing hereditary diseases occurring with liver damage. Both monogenic syndromes and multifactorial diseases are reviewed. Urea cycle disorders, aminoacidopathias and organic acidurias, lysosomal storage diseases, mitochondrial and peroxisomal diseases, disorders of fatty acids β-oxidation, carbohy-drate, lipid and cholesterol metabolism disorders and other diseases are described.
The article describes the syndromes of liver disorders that occur in hereditary diseases; presents the combinations of individual syndromes having diagnostic significance. The pathogenetic aspects of the development of hepatic manifestations of hereditary diseases are considered.
Conclusion. Symptoms of liver damage are often in the practice of any physician. Most of them are the manifesta-tions of somatic pathology. However, certain combinations of symptoms of liver damage (syndromes) indicate heredi-tary pathology. Therefore, it is extremely important to know the main liver syndromes in specific hereditary diseases, to understand the etiopathogenesis of such disorders and to carry out proper differential diagnosis.
About the Authors
Elena Anatolievna Tkachuk
https://mir.ismu.baikal.ru/ismu/page_user.php?id=20673
Federal State Budgetary Educational Institution of Higher Education "Irkutsk State Medical University" of the Ministry of Health of Russia, Russia, 664001, Irkutsk, st. Red Uprising, 1; FGBNU Scientific Center for Problems of Family Health and Human Reproduction, Russia, 664001, Irkutsk, st. Timiryazeva, 16; FGBNU East Siberian Institute of Medical and Environmental Research, Russia, 665827, Angarsk, microdistrict 12a, building 3.
Russian Federation
Federal State Budgetary Educational Institution of Higher Education "Irkutsk State Medical University" of the Ministry of Health of Russia, Russia, 664001, Irkutsk, st. Red Uprising, 1; FGBNU Scientific Center for Problems of Family Health and Human Reproduction, Russia, 664001, Irkutsk, st. Timiryazeva, 16; FGBNU East Siberian Institute of Medical and Environmental Research, Russia, 665827, Angarsk, microdistrict 12a, building 3.
Russian Federation
Doctor of Medical Sciences, Associate Professor, Professor of the Department of Pathological Physiology and Clinical Laboratory Diagnostics of the Federal State Budgetary Educational Institution of Higher Education IGMU of the Ministry of Health of Russia; senior researcher at the Federal State Budgetary Institution NCPZSPHR; leading researcher at the Federal State Budgetary Institution VSIMEI
Igor Zhanovich Seminsky
Federal State Budgetary Educational Institution of Higher Education "Irkutsk State Medical University" of the Ministry of Health of Russia, Russia, 664003, Irkutsk, st. Krasnogo Vosstaniya, 1
Russian Federation
Russian Federation
Doctor of Medical Sciences, Professor, Head of the Department of Pathological Physiology and Clinical Laboratory Diagnostics, IGMU of the Ministry of Health of Russia
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Review
For citations:
Tkachuk E.A., Seminsky I.Zh. HEREDITARY DISEASES OCCURRING WITH LIVER DAMAGE (LECTURE). Baikal Medical Journal. 2024;3(1):78-95. (In Russ.) https://doi.org/10.57256/2949-0715-2024-1-78-95
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