La Revue de medecine interne · 2025
[Refractory immune thrombocytopenia revealing MYH9 related disease in a 64-year-old man].
СтатьяКлинический случайАннотация на английскомНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
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.
Bodard Quentin, Fredon Guillaume, Riche Agnès, Tessier Xavier, Liberatore Johanne
Аннотация
INTRODUCTION: MYH9 related disease is a rare autosomal dominant inherited disorder characterized in its full expression by thrombocytopenia, platelets macrocytosis, deafness, chronic kidney disease and cataract.
CASE REPORT: We present an original and didactic observation of refractory immune thrombocytopenia revealing a late diagnosis of MYH9 related disease. A 64-year-old man with longstanding thrombocytopenia less than 30 G/L without any history of bleeding, was treated with corticosteroids, intravenous immune globulin and thrombopoietin receptor agonists for a coronary angioplasty. The presence of platelets macrocytosis, increased mean platelet volume and deafness led to genetic testing of MYH9 related disease.
CONCLUSION: MYH9 related disease is the most common inherited thrombocytopenia. If no other symptoms are associated, it is an important differential diagnosis for immune thrombocytopenia that should be known.
CASE REPORT: We present an original and didactic observation of refractory immune thrombocytopenia revealing a late diagnosis of MYH9 related disease. A 64-year-old man with longstanding thrombocytopenia less than 30 G/L without any history of bleeding, was treated with corticosteroids, intravenous immune globulin and thrombopoietin receptor agonists for a coronary angioplasty. The presence of platelets macrocytosis, increased mean platelet volume and deafness led to genetic testing of MYH9 related disease.
CONCLUSION: MYH9 related disease is the most common inherited thrombocytopenia. If no other symptoms are associated, it is an important differential diagnosis for immune thrombocytopenia that should be known.