Centro Hospitalar e Universitário de Coimbra, E.P.E.

Coimbra, PORTUGAL

Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

Centro Hospitalar Universitário de Coimbra (CHUC), Portugal, is the Hospital of the city of Coimbra and one of the maximal care clinics of the Public National Health System, providing specialized care mainly to the population of the Centre Region of Portugal (http://www.chuc.min-saude.pt)
CHUC is also a teaching hospital of health related sciences, having a special collaborating protocol with the Faculty of Medicine of Coimbra: Serviço de Formação, Investigação Inovação e Desenvolvimento (http://www.chuc.min-saude.pt/paginas/centro-hospitalar/estrutura-organizacional/formacao-investigacao-inovacao-e-desenvolvimento.php). With 61 clinics, four institutes and 1798 beds, it offers a highly differentiated and high-quality range of treatments for the Centre Region of Portugal.
In CHUC, more than 7600 people work in the highest-differentiated diagnostic and therapeutic services. CHUC was created in 2011, as a result of fusion of the public Hospitals of the city of Coimbra. Continuing the principles of the original Institutions in the commitment with the served populations, CHUC has been highly dedicated to complex patients requiring multidisciplinary expertise, in particular, genetic inherited disorders.

Differentiated care in IEM began in late 1980s in Hospital Pediátrico – CHUC. In 2016 the National Directorate of Health recognized the CHUC expertise on inborn errors of metabolism and the Center for Inherited Metabolic Disorders, coordinated by Prof. Luísa Diogo, was instituted. It is based in the Child Developmental Center of Hospital Pediátrico -CHUC and recruits a large number of professionals from all the CHUC clinical facilities.
According to the terms of its legal recognition, the Centro de Referência de Doenças Hereditárias do Metabolismo, Center of Inherited Metabolic Disorders, – CHUC is focused on the diagnosis, treatment and follow-up of patients with inborn errors of metabolism, in general and on the corresponding education of healthcare professionals, patients and families and the general population, as well as on correlated clinical investigation. It is part of the National network of Centers of Inherited Metabolic Disorders and coordinates the regional network of Affiliated Centers, which give local support to the patients and cooperate in teaching and investigation.

CHUC provides Outpatient Clinic, Day Hospital, Emergency, Intensive Care, Hospitalization and Telemedicine. Facilitated access is offered through phone and email, particularly in cases prone to metabolic decompensations. In recent years, a transition program from paediatric to adult care is being implemented, with shared visits between 16 and 18 years of age.
The Center of Inherited Metabolic Disorders takes care of paediatric and adult patients, including pregnant women and neonates, and can ensure all the necessary diagnostic and management facilities thanks to a multidisciplinary paediatric and adult team and a close partnership with national and international specialized metabolic diagnostic laboratories.
The Center participates in research projects in the field of IEM, in European patient registries and in clinical trials aimed to test for the efficacy of orphan drugs.

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

Specialized dietary treatment including ketogenic diets is accessible to patients with intoxication type and/or energy deficiency disorders, as well as with malnutrition or overweight, among others. Protocols for decompensations prevention and treatment are available for patients and families and professionals.
IEM specific diagnosis and treatment protocols are available in paper files and online in the Hospital intranet.
Psychologists supply empowerment to patients and families. Infants and pre-school children psychomotor development is regularly monitored and measures taken so they develop full competences. Age-school children and adolescents are evaluated and supported by psychologists and teachers specialized in handicapped.
Social workers provide information on patients’ benefits and help to reach them.
CHUC has a Rehabilitation Service and a Pain Outpatient Clinic for both children and adults. Integrated continued care at home, namely severely handicapped and/or neurodegenerative patients is delivered, in coordination with Palliative Care Services in the community.
Permanent Emergency Services with all specialities, involving laboratories and pharmacy, as well as Intensive Care Services are available for patients of all ages and conditions, including IEM.
Diverse dialysis techniques, including venovenous hemodiafiltration, and plasmapheresis are available.
Invasive and non-invasive ventilation procedures are offered, including home nocturnal non-invasive ventilation.
CHUC performs most organ transplantations, being the unique centre for childhood liver transplantation in Portugal. Stem cells transplantation is performed in another Portuguese NHS Hospital through a protocol.
Genetic counselling, pre-natal and pre-implantation diagnoses are available.

The Center of Inherited Metabolic Disorders – CHUC is a member of MetabERN, in which it is mainly involved on the mitochondrial disorders and the lysosomal storage diseases working groups.

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    Luisa Diogo, MD, PhD, paediatrician

    Coordinator of the Reference Center of Inherited Metabolic Diseases -CHUC. Member of the Executive Board of the Portuguese Newborn Screening Program Member of the Scientific Council of Orphanet Portugal. Invited Associated Teacher of Biochemistry - Faculty of Medicine, University of Coimbra

    Maria do Carmo Macário, MD Neurologist

    Coordinator of the Neurometabolic Disorders Outpatient Clinic -CHUC Director of the Neurology Day Hospital Unit – CHUC Member of the Board of the Portuguese Society of Metabolic Disorders Vice-coordinator of the Reference Centre of Inherited Metabolic Diseases –CHUC