Table 1 Baseline demographic and disease characteristics
From: The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency
Characteristics | Patients (n = 9) | |
|---|---|---|
Male, n (%) | 5 | (56%) |
Age at onset | ||
-neonatal period | 8 | (89%) |
Median number of flares per year | 24 | (4-continuous) |
Median duration of flares in days | 5 | (3-7 days) |
Symptoms | ||
-Abdominal pain | 6 | (67%) |
-Diarrhea | 5 | (56%) |
-Vomiting | 6 | (67%) |
-Lymphadenopathy | 4 | (44%) |
-Maculopapular rash | 5 | (56%) |
-Arthralgia | 4 | (44%) |
-Arthritis | 1 | (11%) |
-Hepatosplenomegaly | 4 | (44%) |
-Malaise | 5 | (56%) |
-Psychomotor retardation/ataxia | 5 | (56%) |
-Hypotonia | 3 | (33%) |
-Hypospodia | 1 | (11%) |
-Oculomotory apraxia | 1 | (11%) |
-Macrophage activation syndrome | 1 | (11%) |
-AA-amyloidosis | 1 | (11%) |
Previous treatments | ||
-NSAIDs | 5 | (56%) |
-Corticosteroids | 7 | (78%) |
-Anakinra | 7 | (78%) |
-Etanercept | 1 | (11%) |
-Canakinumab | 2 | (22%) |