Хвороба Німана-Піка тип С: симптоми, діагностика, лікування

Abstract

Among all inborn errors of metabolism lysosomal storage diseases occupy an important place, because they have a diverse clinical symptoms, manifest at different ages and are disguised as different diseases, which makes the diagnosis of these diseases quite difficult and long-term. Niemann-Pick disease, a rare inherited neurodegenerative disease caused by a disruption of intracellular lipid metabolism, is one such disease. The clinical manifestations of this disease are quite nonspecific, including neurological, visceral, or psychiatric symptoms, and can appear both in childhood and adulthood, which complicates diagnosis. Although this disease belongs to orphan diseases, doctors of many specialties may encounter such a patient - general practitioners, pediatrician, neonatologist, neurologist, gastroenterologist, hepatologist, hematologist and psychiatrist. Due to the specifics of the clinic, insufficient awareness of this disease, referral to a medical geneticist is late and patients remain unrecognized for years. The purpose - to provide up-to-date data on Niemann-Pick type C disease, clinical manifestations, diagnostic difficulties, and information on disease treatment options to increase awareness and awareness of the disease among physicians of various specialties. The article discusses the features of clinical manifestations, basic information about the possibilities of laboratory diagnostics, tools for early detection of the disease and achievements in the treatment of the disease. Management of patients with Niemann-Pick disease is complex, requires a multidisciplinary approach, and can only slow the progression of the disease. That is why early diagnosis of the disease is critically important, because specific treatment started as early as possible gives a chance to slow down the development of complications. Spreading knowledge about this disease will shorten the path to diagnosis and improve the provision of medical care to patients. No conflict of interests was declared by the authors.