Summary
Objective. The aim of the study is to review a clinical case of renovascular hypertension and compare it to the newest literature and guidelines.
Research methods. Newest European Society of Cardiology guidelines, PubMed database and Google Scholar search engine were used to conduct the research.
Neuronal ceroid lipofuscinosis is a group of rare heredltary diseases with an incidence rate of 0.15 in 100 000 to 9 in 100 000. The disease is caused by mutations in CLN genes, which code various proteins - lyzosomal enzymes, transmembrane lyzosomal proteins, endoplasmic reticulum proteins, potassium, chloride channels in lysosomes and ATPase. Neuronal ceroid lipofuscinosis type 2 is caused by a mutation in CLN2 gene, coding tripeptidyl-peptidase 1. This mutation reduces the concentration of the enzyme resulting in accumulation of lipopigment in lysosomes.
