Table 1 Clinical characteristics of patients with mitochondrial diseases
From: Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases
MELAS | Pearson syndrome | Kearn–Sayre syndrome | ||||
|---|---|---|---|---|---|---|
Total | Juvenile | Adult | ||||
Number (female: male) | 49 (29:20) | 21 (9:12) | 28 (19:9) | 4 (1:3) | 1 (0:1) | |
Median age at presentation, years (range) | 18.5 (0.1, 49) | 11 (0.1, 17) | 28 (18, 49) | 0.3 (0.1, 2.8) | 0.1 | |
Presenting features | Intellectual disability | 8 (16.3%) | 7 (33.3%) | 1 (3.6%) | 0 | 0 |
Stroke-like episode | 6 (12.3%) | 2 (9.5%) | 4 (14.3%) | 0 | 0 | |
Encephalomyopathy/seizure | 18 (36.7%) | 9 (42.9%) | 9 (32.1%) | 0 | 0 | |
Diabetes mellitus | 10 (20.4%) | 0 | 10 (35.7%) | 0 | 0 | |
Cardiomyopathy | 4 (8.2%) | 2 (9.5%) | 2 (7.1%) | 0 | 0 | |
Proteinuria | 2 (4.1%) | 1 (4.8%) | 1 (3.6%) | 0 | 0 | |
Severe fatty liver | 1 (2%) | 0 | 1 (3.6%) | 0 | 0 | |
Anemia/cytopenia | 0 | 0 | 0 | 3 (75%) | 1 | |
Hypoglycemia | 0 | 0 | 0 | 1 (25%) | 0 | |
Organ involvement during the follow-up period | Neurologic | 41 (83.7%) | 19 (90.5%) | 22 (78.6%) | 4 (100%) | 1 |
Endocrine | 26 (53.1%) | 9 (42.9%) | 17 (60.7%) | 3 (75%) | 1 | |
Cardiac | 20 (40.8%) | 9 (42.9%) | 11 (39.3%) | 2 (50%) | 1 | |
Renal | 9 (18.4%) | 4 (19%) | 5 (17.9%) | 2 (50%) | 1 | |
SNHL | 36 (73.5%) | 17 (81%) | 21 (75%) | 2 (50%) | 1 | |