FIFTY-FIVE YEARS OF PEDIATRIC ENDOCRINOLOGY AND 50 YEARS OF THE DEPARTMENT OF PEDIATRIC ENDOCRINOLOGY, DIABETES AND METABOLIC DISEASES IN SLOVENIA
55 LET PEDIATRIČNE ENDOKRINOLOGIE IN 50 LET KLINIČNEGA ODDELKA ZA ENDOKRINOLOGIJO, DIABETES IN PRESNOVNE BOLEZNI
PEDIATRIČNE KLINIKE
Tadej BATTELINO12*
'University Medical Centre Ljubljana, University Children's Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia 2University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia
Received/Prispelo: Feb 8, 2015 Accepted/Sprejeto: Feb 9, 2015
Editorial/Uvodnik
ABSTRACT Keywords:
paediatric endocrinology, diabetes, metabolic diseases, research, clinical care, Slovenia
Paediatric endocrinology started its independent development early in the general development of this specialty, with a strong focus on research and clinical excellence. Slovenian paediatric endocrinology was an integral part of the European paediatric endocrinology from its beginnings and a founding member of the first 'International Study Group for Diabetes in Children and Adolescents'. After the pioneering work of Prof. Lev Matajc, Prof. Ciril Kržišnik firmly integrated the Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases at the University Children's Hospital in Ljubljana in the international scientific community. In the last decade, the department participates in cutting-edge research and prov'des clinical services at highest international standards.
IZVLEČEK
Ključne besede:
pediatrična endokrinilogija, sladkorna bolezen, bolezni presnove, raziskovalno delo, klinična oskrba, Slovenija
Pediatrična endokrinologija je začela s svojim neodvisnim razvojem zgodaj v splošnem razvoju te specilanosti, z izrazitim poudarkom na raziskovalnemu delu in klinični odličnosti. Slovenska pediatrična endokrinologija je bila že od začetkov evropske pediatrične endokrinologije njen sestavni del, še posebej kot soustanoviteljica prve mednarodne skupine 'International Study Group for Diabetes in Children and Adolescents'. Po pionirskem delu prof. dr. Leva Matajca je prof. dr. Ciril Kržišnik KO za endokrinologijo, diabetes in bolezni presnove Pediatrične klinike v Ljubljani trdno vpel v mednarodno znanstveno skupnost. V zadnjem desetletju KO sodeluje pri vrhunskem raziskovalnem delu in zagotavlja klinično oskrbo po najvišjih mednarodnih standardih.
'Corresponding author: Tel: +386 1 522 92 35; E-mail: tadei.battelino@mf.uni-li.si
The field of clinical endocrinology developed parallel to the development of biochemistry, with identification of chemical substances called hormones. Descriptions of first successful treatments of diseases related to hormones appeared at the beginning of the 20th century and, in 1917 'The Association for the Study of Internal Secretions' (now 'The Endocrine Society') was established in the United States, along with its journal 'Endocrinology' (now 'The Journal of Clinical Endocrinology and Metabolism'). In Europe, 'The Society for Endocrinology' was established in the United Kingdom in 1946, followed by other countries like Germany, in 1964, with 'Deutsche Gesellschaft für Endokrinologie'.
The development of paediatric endocrinology was based on a very strong and active research in this field and, in 1962, the 'European Society for Paediatric Endocrinology' (ESPE) was established, preceding any similar internal medicine association in the old continent. In the United States, a very active group of paediatric endocrinologists from Johns Hopkins University formalized in 1964, and transformed into a national association called the 'Lawson Wilkins Pediatric Endocrine Society' in 1972 (now 'The Pediatric Endocrine Society').
In Slovenia, paediatric endocrinology started with the activities of Prof. Lev Matajc. The first children with endocrine diseases were treated at the University Children Hospital in Ljubljana in the late fifties. Prof. Matajc formally established the Section of paediatric endocrinology in 1963 (1, 2), and after visiting Prof. Henry Lestradet in Paris, he introduced self-control for children with diabetes, started with diabetes summer camps in 1967 (they are organized annually since), national childhood diabetes registry in 1970, and a bulletin for young patients and their families in 1971. In 1974, Prof. Matajc was among the founding members of the paediatric diabetes society 'International Study Group for Diabetes' (in childhood and adolescence) (ISGD), established in Paris under the initiative of Prof. Lestradet (and transformed in 1993 into the 'International Society for Pediatric and Adolescent Diabetes' (ISPAD)). Additionally, in 1969, Prof. Matajc was among the first in Europe using human growth hormone extracted from cadaveric pituitaries for treating growth hormone deficiency.
The leadership in Slovenian paediatric endocrinology was forwarded to Prof. Ciril Kržišnik, who took over the Section of pediatric endocrinology, diabetes and metabolic diseases in 1982, and upgraded it to the Department of the University Children's Hospital in 1990. His main legacy was integrating the department and its research
activities into the international collaboration (EURODIAB, DIAMOND) and professional societies. By organizing the 15th ISPAD annual congress in 1989 in Slovenia, he settled the department on the map of international centres. He continued with this initiative, and participating in the writing of the first WHO-IDF-ISPAD guidelines, was a founding member of the 'Alpe-Adria Study Group for Paediatric Endocrinology and Diabetes' (AASGPED) in 1990, the 'Middle European Working-group of Paediatric Endocrinology' (MEWPE) in 1994, and the 'Mediterranean Society for Paediatric Endocrinology' (MSPE) in 1995. Increasing research activities and international collaboration of the department enabled him to bring the 42nd annual congress of the 'European Society for Paediatric Endocrinology' to Ljubljana in 2003. In addition to his professional endeavour, he became the medical director of the University Children's Hospital (UCH) in 1996, and conducted the construction of a new, modern building into which the UCH moved in 2009, providing the Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases with the environment and means for further clinical excellence and research.
In the last decade, the Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases at the UCH in Ljubljana, shoulders a central role in conducting cutting-edge research in the field of diabetes (3), endocrinology (4-6) and metabolic diseases (7, 8), and maintains internationally comparable excellence in providing medical care (9, 10). The department has a strong vision to further increase integration into European research structures (it currently participates in two ESPE research grants, in two EU grants, and has three grants from the Slovene National Research Agency), quality assurance programs (it obtained the SWEET-IDF-ISPAD certificate in 2014) and clinical excellence. Finally, tight cooperation with the Laboratory for Medical Genetics at the UCH Ljubljana also fosters applied basic research (1119).
The current issue of the Slovenian Journal of Public Health (Zdravstveno varstvo) kindly hosts the department's anniversary by publishing articles based on recent research and clinical activities. Our own results were combined with results from a lively international collaboration into an assortment of original data and information.
All these aims and endeavours are driven by the needs of our chronically ill children, adolescents, young adults and their families - our success will be measured by how much we alleviate day-to-day burden of their diseases.
Figure 1. The Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases at the University Children's Hospital Ljubljana in 2014.
REFERENCES
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3.	Phillip M, Battelino T, Atlas E, Kordonouri O, Bratina N, Miller S.et al. Nocturnal glucose control with an artificial pancreas at a diabetes camp. N Engl J Med 2013; 368: 824-33.
4.	de Schepper J, Rasmussen MH, Gucev Z, Eliakim A, Battelino T. Long-acting pegylated human GH in children with GH deficiency: a single-dose, dose-escalation trial investigating safety, tolerability, pharmacokinetics and pharmacodynamics. Eur J Endocrinol 2011; 165: 401-9.
5.	Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J. et al. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab 2012; 97: E694-9.
6.	Kotnik P, Keuper M, Wabitsch M, Fischer-Posovszky P. Interleukin-1ß downregulates RBP4 secretion in human adipocytes. PLoS One 2013; 8: e57796.
7.	Sedej K, Kotnik P, Avbelj Štefanija M, Grošelj U, Širca Čampa A, Lusa L. et al. Decreased prevalence of hypercholesterolaemia and stabilisation of obesity trends in 5-year-old children: possible effects of changed public health policies. Eur J Endocrinol 2014; 170: 293300.
8.	Groselj U, Murko S, Zerjav Tansek M, Kovac J, Trampus Bakija A, Repic Lampret B. et al. Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring-Implications for clinical management of patients with hyperphenylalaninemia. Clin Biochem 2015; 48: 14-8.
9.	Groselj U, Tansek MZ, Smon A, Angelkova N, Anton D, Baric I. et al. Newborn screening in southeastern Europe. Mol Genet Metab 2014; 113: 42-5.
10.	Dovc K, Telic SS, Lusa L, Bratanic N, Zerjav-Tansek M, Kotnik P. et al. Improved metabolic control in pediatric patients with type 1 diabetes: a nationwide prospective 12-year time trends analysis. Diabetes Technol Ther 2014; 16: 33-40.
11.	Kovač J, Podkrajšek KT, Lukšič MM, Battelino T. Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder. Eur Child Adolesc Psychiatry 2015; 24: 75-82.
12.	Smigoc Schweiger D, Mendez A, Kunilo Jamnik S, Bratanic N, Bratina N, Battelino T. et al. Genetic risk for co-occurrence of type 1 diabetes and celiac disease is modified by HLA-C and killer immunoglobulin-like receptors. Tissue Antigens 2014; 84: 471-8.
13.	Hovnik T, Bratanič N, Podkrajšek KT, Kovač J, Paro D, Podnar T. et al.Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation. Eur J Pediatr 2013; 172: 1125-9.
14.	Tansek MZ, Groselj U, Murko S, Kobe H, Lampret BR, Battelino T. Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population. Mol Genet Metab 2012; 107: 37-42.
15.	Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. Mol Genet Metab 2012; 106: 142-8.
16.	Kotnik P, Debeljak M, Avbelj M, Hovnik T, Ursic Bratina N, Krzisnik C. et al. Lack of association of common allelic variants in the thyroglobulin gene with Hashimoto's thyroiditis in young subjects with type 1 diabetes. Horm Res Paediatr 2010; 73: 244-7.
17.	Hovnik T, Dolzan V, Bratina NU, Podkrajsek KT, Battelino T. Genetic polymorphisms in genes encoding antioxidant enzymes are associated with diabetic retinopathy in type 1 diabetes. Diabetes Care 2009; 32: 2258-62.
18.	Podkrajsek KT, Milenkovic T, Odink RJ, Claasen-van der Grinten HL, Bratanic N, Hovnik T. et al. Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. Eur J Endocrinol 2008; 159: 633-9.
19.	Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T. et al. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat 2001; 18: 225-32.