Paediatria Croatica, Vol. 61 No. 1, 2017.
Pregledni rad
https://doi.org/10.13112/PC.2017.3
A path towards a cultured skin fi broblast biobank of patients with inherited errors of metabolism in Croatia
Marija Zekušić
orcid.org/0000-0002-7068-0617
; KBC Zagreb
Ksenija Fumić
Karmen Bilić
Ana Škaričić
Danijela Petković Ramadža
Tamara Žigman
Vladimir Sarnavka
Mario Ćuk
Ivo Barić
Dunja Rogić
Sažetak
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.
Ključne riječi
fi broblasts; metabolism, inborn errors; Croatia
Hrčak ID:
184291
URI
Datum izdavanja:
28.3.2017.
Posjeta: 1.704 *