University of Debrecen, Clinical Center, Pediatrics Clinic
Nagyerdei Circuit 98
4032 Debrecen
HUNGARY
Plomb
Dr Katalin Szakszon
Téléphone: +3652 411 717 (Ext. No. 56884 or +3652 255 335)
Fax: +3652 255 446
e-mail: szakszon.katalin@med.unideb.hu
Champ d'application
En tant que membre du Réseau européen de référence (ERN) ITHACA, notre centre est spécialisé dans tous les syndromes se caractérisant par des anomalies du développement et/ou une déficience intellectuelle (DI). Environ 1 nouveau-né sur 40 présente une malformation congénitale (261 pour 10 000 fœtus et nouveau-nés selon les rapports EuroCAt), et 1 sur 40 est atteint de déficience intellectuelle. Par conséquent, 3 à 5 % de toutes les naissances humaines présentent ou développeront une anomalie du développement, parmi lesquelles au moins 25 à 50 % sont d’origine génétique ou génomique. Cette population considérable représente en réalité la juxtaposition d’un très grand nombre de troubles individuellement rares présentant une extrême diversité de causes et de phénotypes. Le champ d’action et le périmètre d’expertise de ce centre ITHACA comprennent :
- plus de 5 500 syndromes dysmorphiques et anomalies congénitales multiples (MCA) (répertoriés dans la base de données de dysmorphologie de Londres), parmi lesquels plus de 3 000 maladies monogéniques, toutes les anomalies chromosomiques (dont la plupart ne sont détectables que grâce aux technologies de puces à ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryofétopathies d’origine environnementale
- >1 500 formes monogéniques et plusieurs centaines de formes chromosomiques de déficience intellectuelle, associées ou non à un trouble du spectre autistique (TSA)
Service aux patients
The University of Debrecen, Clinical Center, Pediatrics Clinic (also named Institute of Pediatrics, as part of the Faculty of Medicine) operates a Clinical Genetics Outpatient Care Unit where patients with a suspected genetic disorder (patients with multiple congenital malformations, intellectual deficit, developmental delay, pervasive developmental disorder, neurodegenerative or suspected metabolic disease) and their families seek diagnosis and genetic counselling. Our clinic is responsible for the genetic care of patients from four counties of Hungary (Hajdú-Bihar, Szabolcs-Szatmár-Bereg, Borsod-Abaúj-Zemplén, Jász- Nagykun-Szolnok), in addition, several patients come from over the borders (Transsylvania and the Ukraine).
Dr. Katalin Szakszon, M.D., Ph.D. is the leading expert of this unit, she is clinical geneticist and paediatrician, responsible for the postnatal genetic diagnosis, recurrence risk assessment, possible therapy, prognostic evaluation, pre- and post-diagnosis management of the affected patients and families. Dr. Katalin Szakszon’s main expertise is multiple congenital malformations with intellectual deficit, but rare intellectual disability syndromes and rare neurometabolic disorders are also in her field of interest and knowledge.
The clinical, cytogenetic and molecular genetic diagnosis of patients is achieved with the support of a multidisciplinary team, including experts of paediatric neurology, cardiology, endocrinology, psychology, anaesthesiology, surgery, audiology, radiology, rehabilitation and experts in cyto- and molecular cytogenetics, molecular genetics and general laboratory medicine. A strong collaboration with international experts in foreign countries has also been built.
The Clinical Genetics Outpatient Care Unit cares for a yearly 525 paediatric patients and further ca. 125 adult patients (affected or cascade-testing), consultation hours are held 5 days a week, consultation for inpatients of other wards are also provided, such as Neonatology, Intensive Care, Infant Unit, etc…
The University of Debrecen, Clinical Center has an accredited (DIN EN ISO 9001:2015, GüteZert GmbH) Laboratory Medicine Institute with 12 diagnostic units (clinical chemistry, immunochemistry, laboratory immunology, endocrinology, hematology and urinalysis, hemostasis, flow cytometry, molecular genetics, molecular oncology, cytogenetics, separation techniques, andrology).
Organisation du Centre
In the Clinical Center of University of Debrecen more than 6000 health care workers, including 1544 doctors and 4073 health care professionals take care of patients. The Center provides patient care on 2,700 beds, in 346 outpatient clinics, 35 care facilities, nearly 40 dental services and 60 diagnostics units. The multi-faceted nature of patient care is well illustrated by the fact that in terms of inpatient care specialized care is provided in nearly 61, while in terms of outpatient care and diagnostic services, in close to 91 professions.
In parallel with the development of medicine, the aim of the Clinical Center is to continuously expand the scope of its activities, within this, it gives priority to high-quality patient information.
Employees of the University of Debrecen participated in all of the Hungarian Guidelines (ca. 80 Guidelines in the last 5 years) and in some international ones. The University of Debrecen Clinical Center has implemented and applies a quality management system which complies with the requirements of the DIN EN ISO 9001:2015 standards. The GüteZert Certificate is valid until 06.12.2023
We collaborate closely with patient organizations and other genetic centers to provide national and international guidelines on best practice and clinical care for rare, hereditary disorders and preconceptional and prenatal genetic testing.