Clinical case of hereditary hemochromatosis
| Autor: | O V Kodyakova, N P Fomenko, D R Rakita, A V Solov’eva, I N Nikitina |
|---|---|
| Jazyk: | ruština |
| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
clinical case biology medicine.diagnostic_test business.industry lcsh:R lcsh:Medicine General Medicine Phlebotomy medicine.disease Gastroenterology hemochromatosis Ferritin Hereditary hemochromatosis Internal medicine Genotype biology.protein medicine Serum iron Hemoglobin HFE gene mutation Allele business Hemochromatosis |
| Zdroj: | Kazanskij Medicinskij Žurnal, Vol 99, Iss 6, Pp 998-1003 (2018) |
| ISSN: | 2587-9359 0368-4814 |
| Popis: | The article presents a clinical case demonstrating the difficulties of timely diagnosis of hereditary hemochromatosis, presents data on modern diagnosis and approaches to the treatment of the disease according to existing clinical guidelines. The described clinical case of hereditary hemochromatosis is associated with a homozygous mutation of C282Y in HFE gene in a 58-year-old patient and his twin brother. Initially, signs of iron deposition in the liver were found on MRI of the abdominal cavity. In laboratory analyses, the patient was found to have an increased level of serum iron - 40 µmol/l and ferritin - 1340 ng/ml. Subsequently, the investigation of HFE gene mutations was carried out and a mutation of C282Y in homozygous form (genotype A/A) was found, which is a molecular genetic confirmation of hereditary hemochromatosis of type 1. At the same time, the patient's twin brother at the targeted examination had the serum iron level of 36 µmol/l, the ferritin level of 600 ng/ml, and also the mutation of HFE gene, the allelic variant of A/A. The results of liver fibroelastometry of the patient correlate with the degree of fibrosis F1 by Metavir scale. Timely started therapeutic phlebotomies led to improved clinical and laboratory parameters of iron metabolism while maintaining normal levels of red blood cells and hemoglobin. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|