Overview of clinical characteristics of 32 patients with Gaucher disease and genotype L444P/L444P
| Case | Sex | Ethnic background | Age at diagnosis(months) | Age at last follow-up(years) | Bone disease | Lung disease | Other systems | Splene-ctomy(years) | Treatment | Enzyme therapy* | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|
| *Dose and age treatment begun; †Norrbottnian. | |||||||||||
| Bone disease classifications: Mild, radiologic abnormalities and/or occasional mild pain; Moderate, fractures (including avascular necrosis) and/or chronic pain; Severe, surgery and/or disability due to pain. | |||||||||||
| Am., American; BMT, bone marrow transplant; Dev., Developmental; ERT, enzyme replacement therapy; FTT, failure to thrive; ILD, interstitial lung disease; NA, not available; PH, pulmonary hypertension. | |||||||||||
| 1 | M | North Am. | 3 | 12 | Severe | ILD | Cirrhosis | 4 | NA | None | Died at age 12 |
| 2 | F | North Am. | 24 | 14 | Moderate | None | FTT | 2 | NA | None | NA |
| 3 | M | Dutch-English | 12 | 12 | Severe | None | Hepatic fibrosis | 3 | BMT | None | Died at age 12 after BMT |
| 4 | M | North Am. | 7 | 18 | Severe | PH | Cirrhosis, varices | 11 | NA | None | Died at age 18 |
| 5 | M | North Am. | 11 | 7 | Severe | PH, ILD | Portal hyper-tension | 7 | NA | None | Died at age 18 due to bleeding varices |
| 6 | F | Australian | 12 | 24 | Severe | Fibrosis,hypoxia | None | None | ERT | 60 IU/kg,20 months | Speech delay, special education |
| 7 | F | Hispanic | 15 | 18 months | None | None | FTT | NA | NA | NA | Motor delay |
| 8 | F | Hispanic | 12 | 6 | None | None | FTT | None | ERT | NA | NA |
| 9 | F | Spanish | 18 | 9 | None | ILD | None | None | ERT | 60 IU/kg,20 months | Learning problems |
| 10 | F | North Am. | 19 | 3 | None | ILD | None | None | ERT | 120 IU/kg,20 months | Normal |
| 11 | F | North Am. | 6 | 10 | None | None | None | None | ERT | 120 IU/kg,2 years | Normal |
| 12 | M | African Am. | 12 | 12 | Moderate | None | None | 8 | Refractory to ERT | 120 IU/kg,15 months | Dev. delay,speech delay |
| 13 | F | North Am. | 24 | 17 | None | ILD | None | None | ERT | 60 IU/kg,3 years | Normal |
| 14 | M | Hispanic | 6 | 9 | None | None | None | None | ERT | 60 IU/kg,7 months | Dev. delay,speech delay,special education |
| 15 | F | Hispanic | 2 | 8 | None | None | None | None | ERT | 60 IU/kg,4 months | Autism |
| 16 | F | North Am. | 15 | 21 | Mild-moderate | ILD, clubbing | None | None | ERT | 60 IU/kg,8 years | Normal |
| 17 | M | Irish-English | 15 | 6 | None | None | None | None | ERT | 120 IU/kg,2 years | Normal |
| 18 | F | Swedish† | NA | NA | Mild | None | None | None | NA | None | NA |
| 19 | F | Swedish† | NA | NA | Severe | None | None | None | NA | None | NA |
| 20 | M | Swedish† | NA | NA | Mild | None | None | None | NA | None | NA |
| 21 | M | North Am. | 16 | 21 | Moderate | None | None | 2 | BMT,then ERT | 60 IU/kg,9 years | Dev. delay,special education,bone problems,stable post-ERT |
| 22 | M | Hispanic | 12 | 9 | None | ILD | None | None | ERT | 60 IU/kg,14 months | Motor and speech delay |
| 23 | F | Hispanic | 18 | 11 | Moderate | Restrictive lung disease due to chest deformity | Cirrhosis, cardio-megaly, reno-megaly | 2 | ERT | 60 IU/kg,2 years | Learning problems |
| 24 | F | Hispanic | 12 | 17 | Mild | ILD | None | None | ERT | 60 IU/kg,18 months | Dev. delay,speech delay |
| 25 | F | Hispanic | 6 | 9 | None | ILD | Renal abnormal-ities | None | ERT | 120 IU/kg,12 months | Dev. delay,speech delay,autistic tendencies,special education |
| 26 | M | English | 30 | 16 | None | None | None | None | ERT | 60 IU/kg,3 years | Normal |
| 27 | M | North Am. | 22 | 8 | None | ILD | None | None | ERT | 60 IU/kg until age 4,then 120 IU/kg | Normal |
| 28 | M | Hispanic | 6 | 4 | Mild | ILD | None | None | ERT | 60 IU/kg,7 months | Motor and speech delay |
| 29 | F | African Am. | 4 | 3 | None | Recurrent aspiration pneumonia | None | None | ERT | 120 IU/kg,6 months | Dev. delay,speech delay,seizure disorder |
| 30 | F | Hispanic | 24 | 18 | Mild-moderate | None | None | 2.5 | ERT | 60 IU/kg,3 years | Dev. delay,speech delay,special education |
| 31 | M | North Am. | 24 | 21 | Moderate | ILD | None | None | ERT | 60 IU/kg,2.5 years | Dev. delay,speech delay |
| 32 | M | Iranian-Hispanic | 30 | 12 | Mild | None | None | None | ERT | 60 IU/kg,3 years | Autism |