Primary (hereditary) hemochromatosis
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Keywords

iron metabolism, hemochromatosis forms, etiology and pathogenesis, clinical picture, treatment

How to Cite

Tsimmerman, Y. S. (2017). Primary (hereditary) hemochromatosis. Herald of Pancreatic Club, 37(4), 27-32. https://doi.org/10.33149/vkp.2017.04.04

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Abstract

The lecture presents modern ideas on hereditary hemochromatosis. In particular, the metabolism of iron in normal and pathological conditions is described, as well as the definition and terminology of hemochromatosis, its etiology and pathogenesis. Particular attention is paid to the clinical picture, including pancreatic lesion, diagnostics and differential diagnosis. A separate section is devoted to treatment, both dietotherapy, and bloodletting, drug therapy.

https://doi.org/10.33149/vkp.2017.04.04
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DOCX

References

1. Болезни печени и желчевыводящих пу¬тей / Под ред. В. Т. Ивашкина. – М., 2002.
2. Лопаткина Т. Н. Наследственный гемохроматоз // Руко¬водство по гастроэнтерологии / Под ред. Ф. И. Комарова и С. И. Ра¬попорта. – М., 2010. – С. 583–587.
3. Майер К.-П. Гепатит и последствия гепатита / К.-П. Майер // Перев. с нем. – М., 1999. – С. 261–273.
4. Подымова С. Д. Болезни печени: руководство для врачей / С. Д. Подымова. – М., 2005. – С. 556–566.
5. Последние дости¬жения в диагностике наследственного гемохроматоза / А. А. Баев, Ч. С. Павлов, M. В. Маевская [и др.] // Российск. журн. гастроэнтерол., гепатол. и колопроктол. – 2003. – № 6. – С. 4–10.
6. Ференци П. Гемохроматоз и болезнь Вильсона / П. Ференци // Российск. журн. гастроэнтерол., гепатол. и колопроктол. – 2001. – № 4. – С. 64–65.
7. Циммерман Я. С. Классификации гастроэнтерологических заболеваний и клинических синдромов / Я. С. Циммерман, И. Я. Циммерман. – Пермь, 2014. – С. 133–135.
8. Шерлок Ш. Заболевания печени и желчных путей / Ш. Шерлок, Дж. Дули // Перев. с англ. – Москва, 1999.
9. Bacon B. R. Diagnosis and management of hemochromatosis / B. R. Bacon // Gastroenterology. – 1997. – Vol. 113. – P. 995–999.
10. Berk J. Е. Hemochromatosis / J. Е. Berk, R. J. Priest // Gastroenterology, V. 3 / H. L. Bockus. – 2nd Edition. – Philadelphia ; London, 1966. – P. 403– 419.
11. Crawford D. N. G. Current concepts in rational therapy for hemochromatosis / D. N. G. Crawford, J. W. Halliday // Drags. – 1991. – Vol. 41. – P. 875–882.
12. Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests / D. N. G. Crawford, J. W. Halliday, R. A. Ferris, L. W. Powell // Gastroenterology. – 1984. – Vol. 87. – P. 628–633.
13. Edwards C. Q. Screening for primaren hemochro¬matosis / C. Q. Edwards, J. P. Kurshner // New Engl. J. Med. – 1993. – Vol. 387. – P. 1616–1620.
14. Feeler J. N. A novel MHS class I-line gene is mutated in patients with hereditary hemochromatosis / J. N. Feeler // Nat. Genet. – 1996. – Vol. 13. – P. 399–408.
15. Gollan J. L. Diagnosis of hemochromatosis / J. L. Gollan // Gastroenterology. – 1983. – Vol. 84. – P. 418–431.
16. Gross C. N. Co-trafficking in HFE, a nonclassical major histo¬compatibility complex class-1 protein with the transferrin receptor implies a role in intracellular iron regulation / C. N. Gross // J. Biol. Chem. – 1998. – Vol. 273. – P. 22068–22074.
17. Heilmeyer L. Blut-und Blutkrankheiten: Handbuch der inneren Medizin / L. Heilmeyer, H. Begemann. – Berlin-Gottingen ; Heilderberg, 1951.
18. Kuntz Е. Diseases of liver and biliary system / Е. Kuntz, H-D. Kuntz. – 10th ed. – Oxford-London, 1997.
19. Leiber B. Die klinischen Syndrome / B. Leiber, G. Olbrich. – Munchen: Ber-lin-Wicn, 1963.
20. Lin E. Biochemical liver profile in hemochromato¬sis. A survey of 100 patients / E. Lin, P. C. Adams // J. Clin. Gastroenterol. – 1991. – Vol. 13. – P. 316 –320.
21. Liver damage in Italien patients with hereditary hemochromatosis in highly influenced by hepati¬tis В and С virus infection / A. Pipemo, S. Fargion, R. D. Alba [et al.] // J. Hepatol. – 1992. – Vol. 16. – P. 364–368.
22. Parkkila S. Association of the transferrin receptor in human pla¬centa with HFE the protein defective in hereditary hemochromatosis / S. Parkkila // Proc. Natl. Acad. Sci. – 1997. – Vol. 94, No 24. – P. 13198–13202.
23. Roetto A. New mutations inactivating transferrin receptor-2 in hemochromatosis type 3 / A. Roetto, A. Totaro // Blood. – 2001. – Vol. 97, No 9. – P. 2555–2560.
24. Simon M. Idiopathic hemochromatosis demonstration of reces¬sive transmission and early detection by family HLA typing / M. Simon // New Engl. J. Med. – 1977. – Vol. 297. – P. 1017–1021.
25. Simon M. The genetic of hemochromatosis / M. Simon // J. Hepatol. – 1988. – Vol. 6. – P. 116–118.
26. Stemmel W. Diagnose der primaren hemochromatose / W. Stemmel, C. Nideray, G. Strohmejer // Dtsch. Med. Wschr. – 1993. – Vol. 118. – P. 227–229.
27. Stemmel W. Therapie dcr hemochromatose / W. Stemmel, C. Nideray, G. Strohmeyer // Dtsch. Med. Wschr. – 1993. – Vol. 118. – P. 267–269.
28. Thaler H. Leberkrankheiten: Histologie, Klinik / H. Thaler. – Berlin ; Heilderberg ; New-York : Springer Verlag, 1982.
29. Vierling J. М. Epidemiology and clinical course of liver disease: identification of candidates for hepatic transplantation / J. М. Vierling // Hepatology. – 1984. – No 4. – P. 845–945.
30. Waheed A. Association of HFE-protein with transferrin receptor in crypt enterocites of human duodenum / A. Waheed // Peoc. Natl. Acad. Sci. – 1999. – Vol. 96, No 4. – P. 1579–1584.