Table 1 Patient characteristics
From: Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
Mutation | c.806A > T | c.1024 C > T | c.182 C > A | c.1265G > A | c.1122C > T |
Age (years) | 49 | 45 | 43 | 31 | 29 |
Age at diagnosis | 7 | 45 | 7 | 9 | 3 |
Height (m) | 1.71 | 1.76 | 1.61 | 1.52 | 1.44 |
Weight (kg) | 91 | 111 | 60 | 51 | 44 |
Age start ERT therapy | 47 | 45 | 37 | 25 | 25 |
Currently on ERT therapy | Yes | Yes | No | Yes | Yes |
Duration of ERT therapy (years) | 2 | 0.25 | 2 | 7 | 4 |