MedElevator Войти в исследования
← Поиск публикаций

DOI 10.3389/fmed.2024.1417611

Медицинская библиотека · Frontiers in medicine · 2024

Case report: A rare case of hereditary hemochromatosis caused by a mutation in the HAMP gene in Fuyang, China.

Wang Jinling, Xu Jing, Jiang Ning, Liu Hui, Li Fengcheng, Wang Beibei, Wang Jin, Chu Ziyu, Tan Lin, Li Shasha

Клинический случайСтатьяПеревод в очереди

Аннотация

Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues, resulting from iron metabolism disorders. It is clinically characterized by skin pigmentation (bronze color), liver cirrhosis, diabetes, weakness, and fatigue. Additional symptoms may include arthritis, hypothyroidism, heart failure, and sexual hypofunction. Clinical manifestations can vary from person to person, with a few patients showing no clinical manifestations, which makes the diagnosis difficult for clinicians. In this case report, we described hereditary hemochromatosis related to a mutation in the HAMP gene in Fuyang City, China, as a reference for clinicians. Hereditary hemochromatosis is rarely reported in China. Clinicians in China have relatively insufficient knowledge of this disease, which leads to frequent misdiagnosis. In this case report, we describe hereditary hemochromatosis related to HAMP gene mutation in Fuyang City, China, for the clinician's reference.

Для цитирования: Wang Jinling, Xu Jing, Jiang Ning, Liu Hui, Li Fengcheng, Wang Beibei, Wang Jin, Chu Ziyu, Tan Lin, Li Shasha. Case report: A rare case of hereditary hemochromatosis caused by a mutation in the HAMP gene in Fuyang, China.. Frontiers in medicine. 2024. DOI: 10.3389/fmed.2024.1417611.
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.