ANEMIA OF CHRONIC DISEASE IN A FEMALE PATIENT, HETEROZYGOUS FOR H63D HFE GENE MUTATION


Дәйексөз келтіру

Толық мәтін

Ашық рұқсат Ашық рұқсат
Рұқсат жабық Рұқсат берілді
Рұқсат жабық Рұқсат ақылы немесе тек жазылушылар үшін

Аннотация

The article presents a clinical case of a combination of anemia of chronic diseases and a heterozygous mutation His63Asp (H63D) of the HFE hemochromatosis gene in a female patient. The observed patient had no clinical signs of hemochromatosis, but hyperferritinemia was observed, and the carriage of the heterozygous mutation His63Asp (H63D) of the HFE hemochromatosis gene was also determined. The heterozygous H63D mutation variant does not confirm the diagnosis of hereditary hemochromatosis, however, its carriers may show a persistent increase relative to the reference values of ferritin levels (>500 ng/ml) and serum transferrin saturation coefficient, which must be taken into account when interpreting laboratory data and making a diagnosis.

Толық мәтін

Рұқсат жабық

Авторлар туралы

Natalia Bulanova

G.R. Derzhavin Tambov State University; Clinical Hospital «RZD-Meditsina» named after N.A. Semashko; Central State Medical Academy of the Directorate of the President of the Russian Federation

Email: bulanovanatalia@mtu-net.ru
Dr. med. habil., associate professor, professor of the Department of hospital therapy; associate professor of the Department of emergency medicine, emergency and extreme medicine 392000, г. Tambov, 93 Sovetskaya Str.

Lyudmila Panchenkova

A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Healthcare

Email: lapanchenkova@mail.ru
Dr. med. habil., professor, professor of the Department of hospital therapy No. 1 127473, Moscow, 20/1 Delegatskaya Str

Khadizhat Khamidova

A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Healthcare

Email: k.khamidova@mail.ru
PhD in Medicine, associate professor of the Department of hospital therapy No. 1 127473, Moscow, 20/1 Delegatskaya Str

Galina Karnuta

Clinical Hospital «RZD-Meditsina» named after N.A. Semashko

Email: info@semashko.com
head of the Department of gastroenterology 127473, Moscow, 20/1 Delegatskaya Str

Svetlana Zinovieva

Clinical Hospital «RZD-Meditsina» named after N.A. Semashko

Email: info@semashko.com
doctor at the Department of gastroenterology 127473, Moscow, 20/1 Delegatskaya Str

Tatyana Yurkova

Clinical Hospital «RZD-Meditsina» named after N.A. Semashko

Email: info@semashko.com
PhD in Medicine, doctor at the Department of gastroenterology 127473, Moscow, 20/1 Delegatskaya Str

Tatyana Khomyakova

Clinical Hospital «RZD-Meditsina» named after N.A. Semashko

Email: info@semashko.com
chief physician 127473, Moscow, 20/1 Delegatskaya Str

Ekaterina Khromova

City Clinical Hospital named after V.V. Veresaev of the Moscow Healthcare Department

Email: dshemgkb81@mail.ru
acting head of the hematology and chemotherapy day hospital

Vladimir Popov

G.R. Derzhavin Tambov State University; Clinical Hospital «RZD-Meditsina» named after N.A. Semashko; Moscow State University of Food Production

Email: clinpharmcb6@mail.ru
Dr. med. habil., professor of the Department of pharmacology and biochemistry; professor of the Department of therapy with a course in pharmacy, Medical Institute of Continuing Education

Әдебиет тізімі

  1. Лукина Е.А., Деженкова А.В. Метаболизм железа в норме и при патологии. Клиническая онкогематология. 2015; 4: 355-361. https://dx.doi.org/10.21320/2500-2139-2015-8-4-355-361
  2. Осипян Е.Э., Дроздов В.Н., Сереброва С.Ю. с соавт. Роль гепсидина в развитии дефицита железа при хронических заболеваниях и методы фармакологической коррекции анемии. Экспериментальная и клиническая фармакология. 2020; 9: 13-19.https://dx.doi.org/10.30906/0869-2092-2020-83-9-13-19
  3. WHO guideline on use of ferritin concentrations to assess iron status in individuals and populations. 21 April 2020. URL: https://www.who.int/publications/i/item/9789240000124 (date of access - 16.04.2022).
  4. Kowdley K.V., Brown K.E., Ahn J., Sundaram V. ACG clinical guideline: Hereditary hemochromatosis. Am J Gastroenterol. 2019; 114(8): 1202-18. https://dx.doi.org/10.14309/ajg.0000000000000315.
  5. Соловьева А.В., Кодякова О.В., Никитина И.Н. с соавт. Клинический случай наследственного гемохроматоза. Казанский медицинский журнал. 2018; 6: 998-1003. https://dx.doi.org/10.17816/KMJ2018-998.
  6. Гоник М.И., Жаркова М.С., Киселева О.Ю. с соавт. Пациент 50 лет с впервые выявленным гемохроматозом в терминальной стадии. Российский журнал гастроэнтерологии, гепатологии, колопроктологии. 2021; 1: 64-73.https://dx.doi.org/10.22416/1382-4376-2021 -31 -1 -64-73.7.
  7. Sandnes M., Vorland M., Ulvik R.J., Reikvam H. HFE genotype, ferritin levels and transferrin saturation in patients with suspected hereditary hemochromatosis. Genes (Basel). 2021; 12(8): 1162. https://dx.doi.org/10.3390/genes12081162.

Қосымша файлдар

Қосымша файлдар
Әрекет
1. JATS XML

Осы сайт cookie-файлдарды пайдаланады

Біздің сайтты пайдалануды жалғастыра отырып, сіз сайттың дұрыс жұмыс істеуін қамтамасыз ететін cookie файлдарын өңдеуге келісім бересіз.< / br>< / br>cookie файлдары туралы< / a>