Autoinflammatory diseases in the pediatric neonatologist’s and physician’s practices: series of clinical cases

Molecular genetic analysis in the current clinical practice is a kind of must-do standard in the diagnosis of rare (orphan) diseases and syndromes in pediatric patients, which gives the opportunity for making a diagnosis at an early stage, early period of life and followed by the initiation of a targeted pathogenetic therapy, if and when needed, that in its turn is able to improve the prognosis not only for the health, but also for the quality of life and in some cases for the survival of a patient. As for now, this is an overall accessible diagnostic method the use of which is nevertheless often associated with certain difficulties, such as the need for going through the path of a complex differential diagnosis and the awareness and targeted qualification among pediatric practitioners and neonatologists. Authors presents the description of the two clinical cases of a rare autoinflammatory disease, cryopyrin-associated periodic syndrome (CAPS) in children as a demonstration of the way to verify a clinical diagnosis in childhood and the features of diagnosing orphan diseases in a Russian regional hospital. Conclusion: the presented clinical observations demonstrate the capabilities of modern medicine in making a clinical diagnosis of an orphan disease from the group of autoinflammatory diseases, CAPS in particular, starting from the neonatal period of life of a patient.