A path towards a cultured skin fibroblast biobank of patients with inherited errors of metabolism in Croatia

Rare diseases are an etiologically heterogeneous group of hereditary, chronic and degenerative disorders with the incidence lower than 5 per 10,000 individuals. More than 7,000 rare diseases have been identifi ed so far, and more than 600 of them have the characteristics of hereditary metabolic disorders. Due to the high clinical heterogeneity and demanding diagnostic tests, the path to fi nal diagnosis is often long and may also involve tests performed in laboratories abroad. Despite this, a number of patients remain without fi nal diagnosis. In life-threatening situations for the patient and in case of suspected hereditary metabolic disease, skin biopsy is part of the routinely performed standard procedure. Recent years have seen an increasing availability of treatment options for a broad range of hereditary metabolic diseases. The basic precondition for therapy effi cacy is timely diagnosis. Cultured skin fi broblasts that are stored in biobanks are a valuable biological material. Except for making diagnosis, they may be used to verify the effi cacy of novel approaches to treatment, e.g., small chaperon molecules. All of the above indicates the signifi cance of establishing a fi broblast biobank according to the internationally accepted standards. Key words: fi broblasts; metabolism, inborn errors; Croatia
Keywords:
Category: Review
Volume: Vol. 61, No 1, january - march 2017
Authors: Marija Zekušić, Ksenija Fumić, Karmen Bilić, Ana Škaričić, Danijela Petković Ramadža, Tamara Žigman, Vladimir Sarnavka, Mario Ćuk, Ivo Barić, Dunja Rogić
Reference work: Paediatr Croat. 2017;61:26-32
DOI: http://dx.doi.org/10.13112/PC.2017.3

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