University of Debrecen, Clinical Center, Pediatrics Clinic
Nagyerdei Circuit 98
4032 Debrecen
HUNGARY
Plomo
Dra. Katalin Szakszon
Teléfono: +3652 411 717 (Ext. No. 56884 or +3652 255 335)
Fax: +3652 255 446
eMail: szakszon.katalin@med.unideb.hu
Ámbito de aplicación
El ámbito de especialización de nuestro centro, como miembro de la Red Europea de Referencia (ERN) ITHACA, abarca todos los síndromes que presentan anomalías del desarrollo y/o discapacidad intelectual (DI). Aproximadamente 1 de cada 40 recién nacidos presenta una malformación congénita (261 de cada 10 000 fetos y recién nacidos, según los informes de EuroCAt), y 1 de cada 40 presenta DI. Por lo tanto, entre 3 y 5 % de todos los nacimientos humanos presentan o desarrollarán una anomalía del desarrollo, de las cuales al menos entre 25 y 50 % son de origen genético o genómico. Esta enorme población representa, en realidad, la yuxtaposición de un número muy elevado de trastornos raros a nivel individual que presentan una diversidad extrema de causas y fenotipos. La competencia y el ámbito de especialización de este centro ITHACA incluyen:
- más de 5.500 síndromes dismórficos y de anomalías congénitas múltiples (MCA) (recogidos en la Base de Datos de Dismorfología de Londres), entre los que se incluyen más de 3.000 enfermedades monogénicas, todas las anomalías cromosómicas (la mayoría de ellas solo detectables mediante tecnologías de microarrays), anomalías dismórficas multifactoriales y esporádicas, y embriopatías de origen ambiental
- >1.500 formas monogénicas y cientos de formas cromosómicas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado
Atención a los pacientes
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).
Organización del Centro
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.