Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angiokeratomas, hypo- or anhidrosis, vortex keratopathy. Biochemical tests, molecular genetic testing, and family screening play crucial role in the diagnosis of the disease. Specific pathogenetic treatment of FD includes enzyme replacement therapy (ERT) with recombinant medications of the lysosomal enzyme -galactosidase A. ERT initiation before the development of severe organs and systems’ damage contributes to its higher efficacy. This article covers various aspects of pathogenesis, clinical picture features in childhood, modern methods of diagnosis and management of FD according to literature data.

Background. The long-term effects of large intestine microbiota or its disorders on human health remain largely unexplored. Particularly the issue of an association between the intestinal microbiota in newborns and infants with their further neurodevelopment remains unclear. Objective. The aim of the study is to systematically summarize studies' results on the association of large intestine microbiota (its normal composition and in case of any disorders) in newborns and infants and their neurodevelopment until the age of 1 year. Methods. The search of publications was performed in the following databases: Medline, Web of Science (WoS), Scientific electronic library (eLIBRARY.RU), and CyberLeninka. The publication period was dated from January 2001 to May 2022 (until December 2021 for WoS). The review included studies that examined the an association of large intestine microbiota in newborns and infants with their neurodevelopment until the age of 1 year, the presence of nervous system pathology, behavioral and/or emotional disorders. Languages of analyzed publications were Russian and English. Results. The review includes data from 9 studies. Data on the association of the intestine microbiota (its composition and/or the number of microorganisms) with neurodevelopment at the early age is summarized. Conclusion. Large intestine microbiota of infants is regarded as new non-invasive biomarker of their neurodevelopment. Differences in the design of published original studies included in the systematic literature review do not allow us to assess the role of individual microbiota components in infant’s neurodevelopment.

Background. Nowadays, simultaneous techniques have been widely adopted in abdominal pediatric surgery as they allow to perform surgical interventions for several diseases at the same time. However, the safety of such interventions requires further studies. Objective. The aim of the study is to analyze the short-term outcomes of simultaneous hernia repair in laparoscopic appendectomy in children. Methods. The study included data from patients hospitalized with suspected acute appendicitis in 2022–2023. The study group included children operated for acute appendicitis and who had signs of patent processus vaginalis. Percutaneous internal ring suturing (PIRS) was performed in all cases. The control group (no indirect inguinal hernia was revealed) was formed by pairwise matching of patients by gender, age (± 1 year), and appendicitis type. The surgery time, the blood loss volume, the beginning of enteral feeding, and the presence of postoperative complications were analyzed. Results. The compared groups (13 individuals each) were comparable in gender (38% boys), age (median age about 10 years), and appendicitis type (catarrhal — 31%, phlegmonous — 38%, gangrenous — 31%), and white cell count at admission, presence of serous exudate and omentum changes revealed during surgery. The beginning of enteral feeding, the stool, as well as total duration of hospital stay after surgery did not differ in two groups. Moreover, both groups were comparable in terms of surgery duration, intraoperative blood loss volume, pain syndrome severity. No pyo-inflammatory complications of abdominal cavity or postoperative wounds were revealed during the hospital stay. Conclusion. Simultaneous hernia repair via PIRS method is effective and safe method of surgical management of pediatric patients with combination of acute appendicitis and inguinal hernia.

Background. Meconium ileus is one of the manifestations of cystic fibrosis. It is characterized by intestinal obstruction with viscous meconium leading to perforation and peritonitis. The issues of early diagnosis of cystic fibrosis, management of newborns with meconium ileus and negative neonatal screening for immunoreactive trypsinogen (IRT), as well as IRT decrease causes and mechanisms in patients with meconium ileus require further study. Clinical case description. Routine ultrasound examination at the 33rd week of gestation has shown signs of colon obstruction and meconium peritonitis in the intrauterine child. Surgical treatment of peritonitis was performed urgently on the 1st day after birth. The child was on mechanical ventilation from the 1st day of life. The child has shown signs of intrahepatic cholestasis with direct hyperbilirubinemia (up to 100 μmol/L) and signs of hemorrhagic syndrome (bleeding from injection sites) on the 8th day of life. Negative IRT blood test was received (21.6 ng/mL, normal value < 70 ng/mL) on the 10th day. The fecal elastase concentration was 45 μg/g (normal value > 200 μg/g) (on the same day). Sweat tests were performed on the 21st and 23rd days of life. They have shown high levels of sweat chlorides (112 mmol/L in both samples, normal value — 30–59 mmol/L). The diagnosis of «cystic fibrosis» was established, thus, dornase alfa (dosage — 2.5 mg/day) was added to the therapy. Conclusion. Meconium ileus is one of the specific intestinal manifestations of cystic fibrosis and it commonly can be complicated with intestinal perforation in the intrauterine child with further peritonitis. Children with meconium ileus require sweat tests regardless the neonatal screening results.

The article discusses classifications of medicines for gene and cell therapy. Data on medicinal products registered in Russia, as well as in the European Union countries, Great Britain, USA, and Japan is presented. The limitations on using such medicinal products were considered, including their high utilitarian cost and high risk of adverse events. The potential for increasing clinical efficacy and economic feasibility of advanced therapies (pediatrics included) has been analyzed.