Table 2.
Affected organ/organ system | Frequency in the study cohort of 55 PA patients |
---|---|
Bone marrow | |
Pancytopenia |
11% |
Neutropenia |
29% |
Thrombocytopenia |
35% |
Anemia |
82% |
Central and peripheral nervous system | |
Psychomotor retardation |
55% |
Delayed development of the speech |
55% |
Muscular hypotonia |
51% |
Metabolic stroke |
9% |
Ataxia |
9% |
Impaired hearing ability |
13% |
Visual impairment |
7% |
Heart | |
Long-QT syndrome |
22% |
Cardiomyopathy |
9% |
Pancreas | |
Pancreatitis |
4% |
Skeletal system | |
Osteoporosis | 2% |