Лізосомні хвороби накопичення в Україні

Abstract

Лізосомні хвороби накопичення (ЛХН) – група (близько 60) спадкових моногенних захворювань. Для ЛХН характерне мультисистемне ураження різних органів і систем, зокрема, ЦНС. Для лікування певних ЛХН розроблені лікарські засоби, його ефективність залежить від ранніх діагностики та початку терапії. Розробка методів масового скринінгу з метою виявлення ЛХН триває; вивчення частоти виявлення ЛХН в популяції є важливим етапом створення системи медичної допомоги таким хворим. Вперше в Україні проаналізовані всі підтверджені спостереження ЛХН в період з 1995 по 2016 рр.

Лизосомные болезни накопления (ЛБН) – группа (около 60) наследственно обусловленных моногенных заболеваний. Для ЛБН характерно мультисистемное поражение различных органов и систем, в том числе, ЦНС. Для лечения некоторых ЛБН разработаны лекарственные препараты, его эффективность напрямую зависит от ранней диагностики и начала терапии. Методы массового скрининга с целью выявления ЛБН активно разрабатываются; изучение частоты выявления ЛБН в популяции – важный этап создания системы медицинской помощи таким пациентам. Впервые в Украине проанализированы все подтвержденные наблюдения ЛБН в период с 1995 по 2016 гг.

Lysosomal storage desiaeses (LSD) – is a large group of monogenic metabolic disorders (about 60), inherited mainly by the autosomal recessive type; most of them – are serious diseases with progressive flow that cause severe disability and early death of the patients. LSD are characterized by accumulation of enzymes substrates or products of their incomplete degradation and segregated cytoplasmic components, etc. in different cells and tissues and it causes many disorders. Depending on the accumulated substrate nature, the following LSD are distinguished: mucopolysaccharidosis, sphingolipidosis, mucolipidosis, oligosaccharidosis, etc. Certain LSD clinical flow depends on the pathological process type and location, accumulated biochemical substrate nature, and is usually multisymptomatic. Within one nosological form various phenotypes are found: from “soft” to severe; first symptoms of the disease may be nonspecific, reminiscent of other, more common diseases. Most LSD require complex stage-by-stage clinical and laboratory diagnostics. Until recently almost all LSD considered as incurable; specific correction methods were successfully developed and introduced into medical – it has become one of the most significant achievements in a worldwide medical science of recent decades. Recently, significantly expanded range of LSD laboratory diagnostics gained unique experience in clinical identification of their various forms that significantly influenced on the disease incidence revealing, allowed to analyze epidemiological indicators, to develop effective measures for early diagnosis optimization. LSD enzyme diagnostics in Ukraine is used since 1995: today it is possible to determine the activity of 25 enzymes in homozygous leukocytes, blood plasma, chorionic biopsy, skin fibroblasts cells culture that allowed to verify 30 different diseases. Each LSD has its own biochemical characteristics. The laboratory diagnostics success depends on a clear definition of a clinical problem. This approach is a key to correct diagnosis, further clinical and laboratory monitoring during LSD treatment. Data of the complex clinical and laboratory examination of patients with different forms of LSD provided in the National Specializes Children Hospital “Okhmatdit” in the period 1995–2016 have been analyzed. LSD was diagnosed in 343 patients from 324 families from all regions of Ukraine. For LSD laboratory diagnostics we selected patients with multisymptomatic clinical picture which were grouped on the basis of certain organs and systems disorders; for each group phase-based research protocols were used. The most numerous in LSD structure were sphingolipidosis (52%) and mucopolysaccharidosis (30%); a significant place took GM1-gangliosidosis (8%) and metachromatic leukodystrophy (7%). According to our research, LSD structure in Ukraine is similar to other European countries, but in the same time the incidence of Gaucher and Fabry disease, metachromatic leukodystrophy, mucopolysaccharidosis type I was lower, probably due to LSD significant clinical polymorphism and a large number of adult patients. In the future we are planning to study LSD prevalence in Ukraine, to analyze the mistakes in their late diagnostics in order to develop and implement in the medical practice effective early diagnostic algorithms for certain forms of LSD, for which there are effective methods of treatment.