Hereditary hemochromatosis: Retrospective study on clinical data from Emergency County Hospital Mures

نویسندگان

چکیده

Abstract Objective : Hereditary hemochromatosis, or primary is a recessive genetic liver disorder caused by iron accumulation in tissues. This study evaluates patients with hereditary hemochromatosis to determine correlations between clinical and laboratory data. Methods The data analyzed this was gathered from the discharge records 2019 2021 of Gastroenterology Department Mures Country Emergency Clinical Hospital. 15 were sampled during studied period. Results Hepatic cirrhosis present 67% group patients, 40% presented hypertension 20% showed diabetes mellitus portal hypertension. Positive obtained serum alkaline phosphatase (r=0.8536), lactate dehydrogenase (r=0.7381), urea (r = 0.79). Positive, strong correlation ferritin (r=0.7719), GOT (r=0.778) GPT (r=0.6108). total bilirubin direct 0.85), 0.68) 0.82). Conclusions Excess stored influencing organ function trough reactive oxygen species, hepatic signs being main participant presentation, while cause damage other tissues such as myocardium, pancreas kidneys. Treatment for includes phlebotomies, chelation Deferoxamine.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

CLINICAL REVIEW Hereditary Hemochromatosis

Background: The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease. Methods: A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism. Results: Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting in unregulat...

متن کامل

Hereditary hemochromatosis: genetics, pathogenesis, and clinical management.

Recent findings have led to major advances in our understanding of genetics and pathophysiology of hereditary hemochromatosis. Many crucial genes and molecules have come to light, and the complex interrelationships between them are being studied. However, several questions still remain unanswered. Availability of genotyping has changed the approach to diagnosis, and serum markers hold promise f...

متن کامل

Hereditary hemochromatosis.

Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.

متن کامل

Hereditary hemochromatosis.

Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. End-organ damage or clinical manifestati...

متن کامل

Hereditary hemochromatosis

of terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted noncommercial use, distribution, and reproduction in any medium provided article is properly cited. a Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles/CA USA. b Department of Pathology and Laboratory Medicine Weill Cornell Medical Co...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Acta Marisiensis

سال: 2022

ISSN: ['2668-3148', '2668-3989']

DOI: https://doi.org/10.2478/amma-2022-0031