Centro Hospitalar do Sao Joao, E.P.E. HCP Representative: Centro Doenças Hereditárias do Metabolismo Esmeralda Maria Ferreira Rodrigues Silva

Porto, Portugal

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

Centro Hospitalar de São João (CHSJ) is a tertiary care university hospital, located in north of Portugal, in the city of Porto, offering assistance to a population of about 3 million of persons. CHSJ`s mission is the provision of best healthcare practices, envisioning quality, efficiency and humanization. It has 1100 beds and a workforce of 5500 people (1200 medical doctors), including the all range of medical specialties. In the scope of european reference networks, CHSJ has been endorsed by the national authorities as a national reference center in 15 areas, related with rare and complex conditions or procedures.

Its mission also includes research, scientific and technological development in health, and pre and post-graduate education training. Of over 300 projects initiated every year, around 20% are funded through competitive calls and half are part of academic post-graduate programs. CHSJ holds different training centers recognized by international entities.

Currently, there is a consortium between CHSJ and the Faculty of Medicine, University of Porto called CUME – University Centre for Medicine, legally approved, which aims at promoting of innovative programs and strategic partnerships that enable qualitative advances in community participation and contribute to increasing external financing.

CHSJ has developed and implemented a ‘business intelligence’ tool that provides valuable data to facilitate and strengthen decisions at management and clinical levels, and has been repeatedly awarded in national and international events (“Hospital Awards Future 2011/2012”, KAYZEN LEAN premium 2013; Ministry of Health merit medal in 2013, “Microsoft Health Users Group Innovation Awards 2014”).

Reference Center of Inherited Metabolic Diseases

Since the creation of the inherited metabolic disorders (IMD) Unit, more than 30 years ago, CHSJ manages patients with different groups of inherited metabolic diseases, from the prenatal period to adulthood.

In March 2016, after an assessment process by a national technical committee, CHSJ was recognized as National Reference Center in the area of Inherited Metabolic Diseases.

The Reference Center relies on the participation of several specialties and subspecialties for child and adult medicine, advanced technology for diagnosis and therapy, ensuring multidisciplinary expertise. It has permanently available emergency departments, for adults and children, in separate and dedicated areas, accompanied by lab, imaging and pharmacy services. The Center established partnership with the National Reference Laboratory in the field of IMD (Instituto Nacional de Saúde Doutor Ricardo Jorge), where the National Newborn Screening Programme is performed, as well as with other national and international Institutions.

For a full overview of the diagnostic tests available in the healthcare provider, please click here.

It also collaborates with national and international centers regarding the participation in clinical trials with orphan drugs, multicenter registries and epidemiological studies in at risk populations. CHSJ integrates, as national associate center, the European Registry and Network for Intoxication Type metabolic Diseases (E-IMD), since 2010, and is part of national and international expert teams responsible for guideline elaboration.

At educational level, it participates in pre and post-graduate training (students and residency, fellowship, masters and doctoral programs), promotes continuous medical education, aimed at staff and other care professionals, and also provides training tools for different stakeholders in collaboration with patient associations.


  • HCP has an organized multidisciplinary team supporting patients in hospital or at home and linked with community assistance and different services.
  • Acute care: Emergency Service open for 24 h/day for children and adults, providing all medical and surgery specialities and labs. Availability of specific drugs for metabolic emergencies, all around the clock. Different Intensive Care Units equipped for dialysis and ECMO. Reference hospital for pediatric cardiology and neurosurgery in the north of Portugal.
  •  Specific Treatments and Services:
    – Pharmaceutical Service provides orphan drugs and compounded drugs.- Enzyme replacement and substrate reduction therapy approved by EMA and INFARMED for lysosomal storage diseases.- Individualized and specific nutritional treatment.

    – All surgical procedures, including ophthalmology, otorhinolaryngology, neurosurgery, orthopaedics, cardiothoracic surgery, with anaesthesiologists trained in IMD patients’ conditions.

    – Interventional radiology for diagnosis and therapeutics procedures. Pacemaker and implantable cardioverter defibrillator. Fiberoptic bronchoscopy and intubation; non-invasive ventilatory support. All dialysis techniques.

    – Cardiac, renal (adults) and cornea transplants. Partnerships with other transplant reference Institutions.

    – Diagnostics Services: Conventional radiology, ultrasonography, computed tomography, magnetic ressonance imaging (including spectroscopy), scintigraphy and densitometry. Standard neurophysiological studies, continuous EEG monitoring, aEEG, intraoperative neurophysiological monitoring. Electroretinogram, visual evoked potentials, ocular ultrasound, optical coherence tomography. Audiogram, tympanogram, auditory evoked potentials, nasofibroscopy. Echocardiography, continuous electrocardiographic monitoring, stress test, autonomic function studies, diagnostic and therapeutic cardiac catheterization. Myelogram and biopsies of different organs. Respiratory function tests, studies of sleep apnea. Endoscopy and ultrasound evaluation with transient elastography. Morphological, histopathological, histoenzymatic, immunocytochemical and ultra-structural analysis of muscle, liver, heart, kidney, skin and nerve tissues obtained by biopsy, surgical excision or post mortem. Laboratory tests performed by Immuno-haematology and Clinical Pathology.

    – Access to specialized metabolic diagnostic laboratories for screening of metabolites in blood/ urine / cerebrospinal fluid, enzyme diagnostics and DNA analysis (with INSA, CGM, IBMC/IPATIMUP/ FMUP, LBG-CNC e FFUL).

    – Genetics Department for genetic counselling. Prenatal diagnosis center with capacity for fetal diagnostic procedures. Fertility Unit with preimplantation genetic diagnosis.

    – Rehabilitation services. Palliative care according to patient needs.

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    Centro Hospitalar de São João, Porto, Portugal


    Centro Hospitalar de São João, Porto, Portugal