Clinical, biochemical and molecular-genetic features of selective screening of Russian patients with Niemann-Pick disease types A, B and A/B. Results of the selective screening program

   Background. Niemann-Pick disease, types A, B and A/B (NPD) is a rare autosomal recessive disorder from the group of lysosomal disorders caused by deficiency of the enzyme acid sphingomyelinase. The average incidence of the disease is 0.4 – 0.6 cases per 100,000 live births.

   Aim: to describe the clinical, biochemical and molecular genetic features of 20 Russian patients with NPD, types A, B and A/B, and to describe the experience of selective screening for NPD types A, B and A/B.

   Methods. The activity of acid sphingomyelinase was analyzed in samples of 4498 patients admitted for examination to the Medical Genomics Laboratory of the Medical Genetics Center of the Federal State Autonomous Institution «National Medical Research Center of Children’s Health» of the Ministry of Health of the Russian Federation from 2013 to 2024 as part of various selective screening programs. Molecular genetic diagnostics in patients with reduced sphingomyelinase activity was performed using Sanger sequencing.

   Results. For the first time in Russia, the results of twelve years of experience in selective screening of a rare hereditary Niemann-Pick disease types A, B and A/B are presented, including clinical and anamnestic manifestations, biochemical and molecular genetic research methods. 24 different variants of the SMPD1 gene were identified in 20 Russian patients.

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