Аннотация:
Hereditary hemochromatosis (HH) is a disease with an autosomal recessive hereditary type, stipulated by the genetic defect that leads to a high intestinal absorption of iron and primary accumulation in the parenchymal cells of the liver and other organs. This is the most common hereditary disease among White population, the frequency is about 1 case per 250 people. The prevalence of HH is inhomogeneous, people from countries in Northern Europe, especially Scandinavian, are more susceptible to this disease. Mutations of the HFE gene account for approximately 90[%] of HH cases. In HH excess iron deposits mainly in the cytoplasm of parenchymal cells of various organs and tissues: in the liver, pancreas, endocrine glands, skin and joints. The clinical picture of HH is characterized by the classical triad development: cirrhosis of the liver, diabetes mellitus (DM) and hyperpigmentation. HH may also manifest itself as various endocrinopathies (hypo-function of hypophysis, adrenal glands, thyro
Ключевые слова:
Cirrhosis of the liver; Hereditary hemochromatosis; Iron overload syndrome; Liver biopsy; Perls reaction
hemochromatosis protein; HLA antigen class 1; iron; membrane protein; anemia; complication; Europe; genetics; hemochromatosis; human; iron overload; metabolism; Anemia; Europe; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Iron; Iron Overload; Membrane Proteins
Подзолков В. И. Валерий Иванович 1948-
Покровская А. Е. Анна Евгеньевна 1976-
Варгина Т. С. Татьяна Сергеевна 1975-
Оганесян К. А. Каринэ Арсеновна 1970-
Podzolkov V. I. Valerij Ivanovich 1948-
Pokrovskaya A. E. Anna Evgenyevna 1976-
Vargina T. S. Tat`yana Sergeevna 1975-
Oganesyan K. A. Karine` Arsenovna 1970-
Diagnostic difficulties of primary hemochromatosis in a patient with posthemorrhagic anemia [Трудности диагностики наследственного гемохроматоза у больной с постгеморрагической анемией]
Diagnostic difficulties of primary hemochromatosis in a patient with posthemorrhagic anemia [Трудности диагностики наследственного гемохроматоза у...
Текст визуальный непосредственный
Терапевтический архив
Медицинское маркетинговое агентство "МедиаМедика"
Т. 91, Вып. 4 С. 118-121
2019
Статья
Cirrhosis of the liver Hereditary hemochromatosis Iron overload syndrome Liver biopsy Perls reaction
hemochromatosis protein HLA antigen class 1 iron membrane protein anemia complication Europe genetics hemochromatosis human iron overload metabolism Anemia Europe Hemochromatosis Hemochromatosis Protein Histocompatibility Antigens Class I Humans Iron Iron Overload Membrane Proteins
Hereditary hemochromatosis (HH) is a disease with an autosomal recessive hereditary type, stipulated by the genetic defect that leads to a high intestinal absorption of iron and primary accumulation in the parenchymal cells of the liver and other organs. This is the most common hereditary disease among White population, the frequency is about 1 case per 250 people. The prevalence of HH is inhomogeneous, people from countries in Northern Europe, especially Scandinavian, are more susceptible to this disease. Mutations of the HFE gene account for approximately 90[%] of HH cases. In HH excess iron deposits mainly in the cytoplasm of parenchymal cells of various organs and tissues: in the liver, pancreas, endocrine glands, skin and joints. The clinical picture of HH is characterized by the classical triad development: cirrhosis of the liver, diabetes mellitus (DM) and hyperpigmentation. HH may also manifest itself as various endocrinopathies (hypo-function of hypophysis, adrenal glands, thyro