Department of Paediatrics and Inherited Metabolic Disorders (KPIMD) combines the tradition of the oldest pediatric department in the Czech Republic with most up-to-date diagnostic and therapeutic methods. The roots of the clinic at the Karlov district of Prague go back to 1875, when the government established a new home for the foundlings in the Ke Karlovu street. The extensive building was finished in 1901 and has served the pediatric population ever since.
KPIMD itself was established in 1992 by fusion of the 3rd and 4th departments of pediatrics forming the Karlov pediatric complex. It provides general pediatric care to the surrounding region and highly specialized care to patients with certain conditions from all regions of the Czech Republic. The main fields of focus include pediatric intensive care, inborn errors of metabolism, rheumathology, gastroenterology, pulmonology and neonatology. KPIMD offers - as a single centre in the country - highly specialized diagnostics and therapy to children and adults with inborn errors of metabolism. Our laboratories conduct the national newborn screening program of inherited disorders of metabolism for two thirds of the country. The close cooperation with the Institute for inborn errors of metabolism and KPIMD resulted in their 2017 merger and formation of a large biomedical unit - the KPIMD metabolic centre.
KPIMD has three inpatient units, a day-clinic, and an outpatient department providing general and specialized care. Most patients are treated as outpatient, with the day-clinic serving children in need of the more challenging interventions such as transfusions, most diagnostic procedures, enzyme replacement and biological therapy. Most of the hospitalized children are admitted with a legal guardian. Almost a half of the patients come to the clinic from outside Prague but, in spite of the many highly specialized consults, the overall distribution of patient diagnoses is similar to most large pediatric centers. In addition to providing therapeutic hypothermia, continuous renal replacement therapy and all levels of ventilation support to children, KPIMD is the only ELSO-associated centre providing pediatric extracorporeal life support in the Czech Republic. In colaboration with the company Pragomedica, KPIMD provides medical transport of pediatric patients including those on continuous life support.
Another field of focus at KPIMD is rheumathology, the care for children with autoinflammatory diseases and gastrointestinal or connective tissue disorders, including eating disorders. In cooperation with the Urological Clinic of the First Medical Faculty, KPIMD provides the complex diagnostics and therapy of congenital uropathies. KPIMD Centre for complex care for children with perinatal pathologies offers multidisciplinary somatic, neurosensoric, psychological and behavioral care to the families of the affected children.
The KPIMD metabolic centre contains the outpatient unit, the clinical diagnostics laboratories (biochemistry, DNA diagnostics, sequencing lab, enzymology, tissue cultures, mitochondrial disorders lab) and the research laboratories (laboratory for the study of rare diseases, laboratory of targeted metabolomics, and mitochondrial research laboratory). The centre is also a part of the National centre for medical genomics.
KPIMD works closely with other departments of the General faculty hospital, with the Department of pediatric surgery and traumatology of Thomayer Hospital (Prague), the Ortopedic department of the Hospital Na Bulovce (Prague). The department operates its own kindergarten and elementary school and cooperates with the established volunteering organizations (e.g. the Medical clowns).
In the area of the rare diseases, KPIMD joined the European Reference Networks (ERN). The department passed the demanding international audit and is a part of the MetabERN (ERN for Hereditary Metabolic Disorders), the ERN-RITA (ERN for Rheumatic, Immunodeficiency, Autoinflammatory and Autoimmune diseases), and the ERN-EYE (ERN for Eye diseases). KDDL also takes part in the E-HOD and U-IMD - i.e. the international consortia and registries for metabolic patients.
As a part of the First medical faculty, KPIMD offers courses in pediatrics for medical and dental students, elective courses in pathobiochemistry, bachelor- and master-level courses in pediatric nursing and intensive care nursing. It is a part of the First medical faculty PhD program and offers postgraduate courses in pediatrics. KPIMD also provides residential and fellowship training to doctors preparing for medical certification in pediatrics and related special fields.
Research at the KPIMD is primarily oriented towards the rare diseases, inborn errors of metabolism and rheumatologic disorders - KPIMD contributes to the National centre of medical genomics. The KPIMD laboratories are a significant technological and intellectual platform extending over multiple medical fields (e.g. cardiology, neurology, ophthalmology or psychiatry). The scientific expertise at KPIMD integrates molecular, biochemical, tissue- and cell-biological aspects with the clinical features of the studied diseases. The researchers at KPIMD significantly contribute to the identification of new diseases on the clinical, biochemical, and molecular level and also keep developing and testing new diagnostic and treatment options. Their work was repeatedly recognized and awarded within the Czech Republic and internationally.