[The cost of specialized medical care of children under spinal muscular atrophy in Moscow].

The spinal muscular atrophy is neuromuscular disease caused by mutations in SMN1 gene. The clinical picture of disease is characterized by progressive muscular weakness and atrophy associated with degeneration of spine, and in severe cases by affection of motor neurons of lower bulbar cells. The spinal muscular atrophy progressing course resulting in disability and infant mortality. Actually, specific treatment is at the stage of clinical trials. However, patients are needed in permanent symptomatic arresting of manifestations and pathogenetic treatment preventing development of disease. The article presents calculations of direct medical costs for treatment in pediatric patients (0-17 years old) in Moscow with the main types of spinal muscular atrophy. It is established that the cost of specialized medical care of children with spinal muscular atrophy per single under age patient in Moscow consisted 7,131,185.84 rubles annually, including primary diagnostic, treatment and rehabilitation and medicinal treatment. In total, according to data for 2020 in Moscow, where number of children patients is 144, the cost of specialized medical care of children with spinal muscular atrophy is estimated as 1,024,580,269.16 rubles. At that, data takes into account only direct medical costs for out-patient and in-patient care of children with spinal muscular atrophy, excluding number of exacerbations of disease. Taking into account average numbers of hospitalizations per year because of illness, the cost of in-patient care of single child amounts to 7,844,304.42 rubles annually and 1,127,018,732.08 rubles for all children with spinal muscular atrophy in Moscow (according data of 2020).

Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277*), described for the first time.

The clinical pictures of the disease of two Russian patients with cystic fibrosis with a rare nonsense variant c.831G>A (p.Trp277*) are described. The first case is a patient with the genotype comprising variant c.54-5940_273+10250del21kb (CFTRdele2,3), and the genotype of the second case included variant c.1521_1523delCTT (F508del). Patient 1, whose genotype had two class I genetic variants, revealed severe violations of CFTR synthesis based on the intestinal current measurements (ICM) and results obtained in the intestinal organoids. In both cases of patients with genetic variant c.831G>A, a severe course of cystic fibrosis was observed.