Congenital Amegakaryocytic Thrombocytopenia

先天性amegakaryopytocytocytopenia（CAMT）是一种罕见的，遗传性的疾病，其特征是大量的巨核细胞，这是一种骨髓细胞，使血小板使血小板对凝结和防止流血很重要。最初，骨髓不再制成血小板。随着时间的流逝，骨髓可能也可能停止制造红色和白色血细胞。

CAMT is usually diagnosed anywhere from birth to nine months but often in a child’s first month of life. There are two forms of the disease:

• Group I CAMT—severe, persistent thrombocytopenia (low platelet count) and early onset of pancytopenia (low red and white blood cell count)
• Group II CAMT—temporary increase in platelets early in life, with possible later development of pancytopenia

What are the symptoms of CAMT?

The most common symptoms of CAMT are:

• bruising
• bleeding, which can be life-threatening
• petechiae — tiny red dots under the skin that are a result of very small bleeds into the skin

Children with CAMT can also have central nervous system abnormalities, retardation of psychomotor development, cardiac defects, and other rare malformations.

How we care for CAMT

Children with CAMT receive treatment at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center through our Bone Marrow Failure Program. Continue reading to learn more about congenital amegakaryocytic thrombocytopenia or visit theBone Marrow Failure and Myelodysplastic Syndrome Programpage to learn about our expertise and治疗选择.