Degtyareva A, et al. Pediatr Gastroenterol Hepatol Nutr. 2024 Jul;27(4):224-235. https://doi.org/10.5223/pghn.2024.27.4.224

The neonatal hyperammonemia is the pathological condition that occurs during the neonatal period; it is characterized by theincreased content of the free ammonium ions in the blood, and it causes the severe neurological disorders. The hyperammonemiain the newborns is one of the manifestations of a wide range of both primary (hereditary) and secondary metabolic disorders.Depending on the specific cause, the hyperammonemia in the neonatal period can be of the persistent or transient nature. As a rule,the clinical signs of this condition are nonspecific. The neurological disorders of the varying severity are noted, as follows: CNS(central nervous system) excitement or depression syndrome, episodes of apnea, diffuse muscular hypotonia, convulsive disorder andcoma. The hyperammonemia can be accompanied by the respiratory disorders, and it can cause the development of the multiple organfailure that resembles the clinical symptom complex of the sepsis. The severity of brain damage correlates with the degree of increasein the ammonia concentration and hyperammonemia duration. Early diagnosis of the hyperammonemia allows to save the child’s life,to prevent the severe neurological consequences and to reduce the risk of disability. Moreover, the identification of the hereditarymetabolic diseases accompanied by the hyperammonemia determines the necessity to carry out the genetic counselling of the family,as well as the prenatal and preimplantation genetic diagnosis.

Alagille syndrome is a genetic multisystem disease in which one of the key symptoms that significantly impairs quality of life is cholestatic pruritus. Until recently the only treatment opportunity was liver transplantation. In 2021 the new drug maralixibat (Marixibat) was approved and registered in the United States. This article presents the first experience of using this medication in Russia. The patient stopped itching, significantly reduced the serum bile acids and also improved physical development within 7 months of therapy. Our first experience of using maralixibat in Russia, as well as the available literature data indicates a significant improvement in the quality of life of patients and allows us to consider this drug as an alternative to liver transplantation.

Ранние клинико-лабораторные и инструментальные характеристики синдрома Алажилля