Multiorgan violations in connective tissue dysplasia in children. diagnostic and management standards. Russian draft recommendations

Abstract

In October 2014 in Moscow at the XIII Russian Congress “Innovative Technologies in Pediatrics and Pediatric Surgery” was adopted the first part of the Russian recommendations “Congenital and multifactorial hereditary connective tissue disorders in children. Diagnostic algorithms. Tactics of treatment”. Multifactorial connective tissue dysplasia have a high prevalence in the population. We present the second part of the draft Guidelines dealing with multiple organ disorders in the connective tissue dysplasia. Despite the high level of modern molecular techniques, clarification of their nosology remains a distant prospect. Figuring out the incidence of connective tissue dysplasia hindered by the lack of common terminology, standardized diagnostic criteria, as well as the practical inaccessibility of modern molecular genetic techniques to identify the disease. In the first part of the Guidelines we could not find a place for all aspects of this complex issue, which bears an interdisciplinary approach. Later it was planned to develop recommendations for doctors of various specialties. During writing the second part it was taken into account the specialists and research teams from St Petersburg, Moscow, Tver, Omsk, Novosibirsk, Ivanovo, Chelyabinsk, Izhevsk, Orenburg, Smolensk, Petrozavodsk, Nalchik, Barnaul, Saratov, Rostov-on-Don, Voronezh, Stavropol, Yaroslavl. The core of the group works in active collaboration since 2008. The draft of the second part of the recommendation characterized especially multifactorial connective tissue dysplasia in infants, multiple organ disorders of the cardiovascular, respiratory, urinary system, gastrointestinal tract, hemostasis, nervous, musculoskeletal, upper respiratory tract and maxillodental apparatus. It sets out the course and tactics of various diseases with concurrent connective tissue dysplasia.