Table 2.
The diagnosis, age of presentation, presenting symptoms, treatments and clinical outcomes for MPS patients involved in the longitudinal study of HCII-T and DS:CS ratio
| Patient | Diagnosis | Age of presentation | Presenting symptoms | Treatment | Clinical outcomes |
|---|---|---|---|---|---|
| A | MPSIH | 8 months | Hernia, hearing loss, hepatosplenomegaly, spinal gibbus | 11 weeks ERT (Laronidase) | Improvements in hearing, speech and language |
| Matched (6/6) unrelated cord transplant (accepted) | Developed the ability to walk unaided | ||||
| Worsening thoracolumbar kyphosis | |||||
| B | MPSIH | 5 months | Coarse facial features, spinal gibbus, hepatosplenomegaly, respiratory symptoms, soft systolic heart murmur | 11 weeks ERT (Laronidase) | No mitral regurgitation |
| Matched (6/6) unrelated cord transplant (rejected) | Respiratory symptoms improving but recurrent chest infections possibly due to GVHD in the lungs | ||||
| Autologous rescue 3 months after failed transplant | Progressive bone and joint disorders, severe scoliosis, but no cord compression | ||||
| 13 weeks ERT (Laronidase) | |||||
| Matched (10/10) unrelated marrow transplant (accepted) | |||||
| C | MPSIH | 7 years | Joint stiffness, hepatosplenomegaly, facial dysmorphia, corneal haze, sleep apnoea, kyphosis, scoliosis (at first consultation in Manchester aged 10 years) | ERT from first consultation in Manchester (Laronidase) | Normal cardiac function, with mild mitral regurgitation |
| Hepatosplenomegaly drastically reduced | |||||
| Improvements in breathing and mobility | |||||
| D | MPSIH | 3 months | Severe cardiomyopathy, severe metabolic acidosis, hepatosplenomegaly | ERT from diagnosis (Laronidase) to be followed by HSCT | Cardiomyopathy improved -fractional shortening increased from 11 to 25% |
| E | MPSII | 4 years | Large head, coarse facial features, moderate developmental delay, history of upper airway obstruction and sleep apnoea | ERT from diagnosis (Elaprase) | Increased energy levels, alertness and ease of movement |
| Improved hearing, motor development | |||||
| Lack of sleep apnoea | |||||
| Mild mitral regurgitation | |||||
| Physiotherapy scores improved from moderate to mild range | |||||
| F | MPSII | 18 months | Chest deformity, coarse facial features, spinal gibbus, hepatosplenomegaly, no speech development, history of recurrent respiratory tract infections | ERT from diagnosis (Elaprase) | Improvements in speech and language |
| Increased mobility and exercise tolerance | |||||
| Lack of hepatosplenomegaly and joint stiffness | |||||
| G | MPSVI | 6 months | Curvature of the spine, cardiac systolic murmur, club foot, respiratory tract infections, scoliosis, dysmorphic face, hepatomegaly | ERT from diagnosis (Naglazyme) | Desaturation in sleep study, nasal obstruction and large tonsils |
| Mitral valve regurgitation progressed from mild–moderate to moderate–severe | |||||
| Improved posture and walking ability | |||||
| H | MPS VI | 7 months | Gibbus and pectus excavatum deformities, reduced hearing on one side, noisy breathing and recurrent respiratory infections, soft systolic heart murmur | ERT from diagnosis (Naglazyme) | Normal cardiac function, no heart murmur |
| Stopped snoring, tonsils smaller and nose clear | |||||
| Hearing appears normal |