TABLE 5.
The case fatality rates for different diseases from the “The regional list of patients with rare diseases” in 2013–2914 and 2016–2017.
| No | List of rare diseases | Case fatality rates a (adults + children) b / c , % | Case fatality rates (children) b / c , % | Case fatality rates (adults) b / c , % |
| 1 | Hemolytic uremic syndrome | 4.76/2.78 | 3.18/2.46 | 12.5/3.45 |
| 2 | Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli syndrome) | 5.65/3.11 | −/− d | 5.73/3.19 |
| 3 | Aplastic anemia, unspecified | 5.94/6.37 | 3.7/1.45 | 6.29/7.13 |
| 4 | Inherited factor II deficiency (fibrinogen), factor VII deficiency (labile), factor X deficiency (Stewart-Prauer) | 0/0.96 | 0/– d | 0/1.53 |
| 5 | Immune thrombocytopenia (Evans syndrome) | 1.29/2.12 | 0.2/0.28 | 1.64/2.55 |
| 6 | Complement deficiency | 0/0.32 | 0/– d | 0/0.39 |
| 7 | Central precocious puberty | 1.21/0.23 | 1.23/0.24 | 0/0 |
| 8 | Disorders of aromatic amino acid metabolism (classical phenylketonuria, other types of hyperphenylalaninemia) | 0.1/0.16 | 0.08/0.18 | 0.24/0.1 |
| 9 | Tyrosinemia | 0/6.45 | 0/6.90 | 0/0 |
| 10 | Maple syrup urine disease | 33.3/5.56 | 33.33/5.88 | -/0 d |
| 11 | Other types of amino acid metabolism disorders | 0/3.23 | 0/3.45 | 0/0 |
| Branched-chain amino acidemia (isovaleriс acidemia, methylmalonic acidemia, propionic acidemia) | ||||
| 12 | Fatty acid metabolism disorders | 26.46/1.85 | 24.14/2.56 | 40.0/0 |
| 13 | Homocystinuria | 0/0 | 0/- d | 0/0 |
| 14 | Glutaric aciduria | 11.76/8.11 | 7.14/9.38 | 33.3/0 |
| 15 | Galactosemia | 0/0,78 | 0/0,80 | 0/0 |
| 16 | Other sphingolipidoses: Fabry disease, Niemann-Pick disease | 4.17/4.62 | 8.33/4.08 | 0/4.94 |
| 17 | Mucopolysaccharidosis, type I | 5.56/8.25 | 6.12/8.24 | 0/8.33 |
| 18 | Mucopolysaccharidosis, type II | 7.35/7.96 | 1.89/6.90 | 26.67/11.54 |
| 19 | Mucopolysaccharidosis, type IV | 2.63/6.25 | 3.7/10.34 | 0/0 |
| 20 | Acute intermittent (hepatic) porphyria | 0/4.17 | −/− d | 0/4.71 |
| 21 | Copper metabolism disorders (Wilson’s disease) | 0.9/1.49 | 0/1.01 | 1.02/1.56 |
| 22 | Osteogenesis imperfecta | 1.03/0.46 | 0.33/0.84 | 2.20/0 |
| 23 | Pulmonary hypertension (idiopathic) (primary) | 9.6/9.48 | 9.65/12.3 | 9.58/8.84 |
| 24 | Systemic-onset juvenile rheumatoid arthritis | 0.33/0.88 | 0.4/0.53 | 0/1.9 |
| Overall | 1.85/2.02 | 0.95/0.95 | 3.01/3.06 | |
a
Case fatality rate is an indicator equal to the ratio of the number of deaths from a certain disease in a certain period of time to the total number of people who had the same diagnosis within the same period of time, expressed as a percentage.
b
Case fatality rates for the period 2013–2014/
c
Case fatality rates for the period 2016–2017.
d
No patients in the Registry.