Centro Hospitalar Lisboa Norte, E.P.E.

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPS

• Enzyme replacement therapy: EMA approved for Gaucher, Fabry, Pompe, Mucopolysaccharidoses (type I, II, IV, VI and VII), LAL deficiency
• Substrate reduction therapy: EMA approved for Gaucher, Niemann Pick type C
• Surgery for Neurological involvement (carpal tunnel decompression, cervical spine decompression, ENT surgery, lumbar spine decompression and stabilization, ventricular peritoneal shunts), Cardiothoracic surgery (heart, blood vessels and lungs), liver biopsy and surgery, corneal transplantation, dental surgery, among others
• CHLN has recognized technical competency in kidney and medullar transplantations (pediatric and adult), establishing interinstitutional collaborations with other transplantation units
• Concomitant treatments for: seizures, sleep and pain, heart, kidney, liver, skeleton, bowl, ENT, neuropsychiatric involvement, ophthalmology, ORL and lung
• 4/7 access to emergency room and chemistry, imagiology and physiology priority studies, to adult and pediatric ICU; to emergency dietitian and pharmacy support (CHLN pharmacy has technical experience and specific equipments for cofactors, toxic scavengers, enzymatic therapy and orphan drugs management)
• Conventional and NO ventilation, hemodinamic support, dyalitic techniques and ECMO, supported by highly specialized and qualified specialities, pediatric and adult teams
• Biobank
• Full rehabilitation service is available to outpatient, inpatient and home care basis.

Key resources:

• CHLN has technical and scientific excellence capacity, allowing holistic multidisciplinary approach that gathers all the specialties (including neurology, cardiology, nephrology, obstetrics and genetics, intensive care, nuclear medicine, rehabilitation, among others), and health techniques (dietitians, psychologists, social assistants, …)
• CHLN has established protocols with third party laboratories to provide additional support, such as the Center for Medical Genetics, the MetGen.iMed (Metabolism and Genetic Laboratory of the Farmacy Faculty) and the Newborn Screening, Metabolism and Genetic National Laboratory INSA, among others. These are all specialized in biochemical, enzymatic and molecular diagnosis of IMD with national and international accreditation. Genomed Lab integrated in Lisbon Academic Centre, has certified accreditation in molecular studies for IMD (specific and combined genetic panels)
• Access to the highest imaging techniques as conventional radiology, contrasted radiography, ultrasounds, vascular flow assessment by doppler, nuclear magnetic resonance (MRI, MRS) with possibility of evaluation of the metabolic profile by spectroscopy, axial tomography (TC), angiography (diagnostic and therapeutic), angioCT, angioMRI, CPRM, biopsies and cytology guided by ultrasound or CT scan. The tests conducted in pediatric age rely on the support of the anesthesia team designated for that purpose in residence scheme
• Access to other Specialized Diagnostics:
  echocardiography, neurophysiology (EEG, EMG, VEP, SEP, AEP, NCV, BERA) pneumology (bronchoscopy, respiratory evaluation that includes spirometry, pletismography, CO diffusion, ergometry, sleep studies (Polissonography 1,2,3); behavioural study and neuropsychiatry, ophtalmology, cardiology, gastroenterology (pH monitoring, endoscopy, colonoscopy, H2 expired, biopsies (liver percutaneous, colon, stomach, esophageal and/or transendoscopic), neonatology (transfontanellar ultrasound, amplitude-integrated electroencephalography, acoustic otoemissions and evocated potentials); nephrology, urology, PED audiology, swallowing study, among others
• Access 24/7 to the diagnostic and therapeutic techniques available in the Intensive Care Unit: transthoracic echocardiogram, abdominal and chest ultrasound, bronchoscopy, continuous monitoring electroencephalographic, invasive monitoring of blood pressure, central venous pressure, invasive intracranial pressure monitoring, NIRS, transcranial doppler, invasive ventilation (including HFOV and NAVA) and non-invasive (including NIV – NAVA), airway management in mucopolysaccharidoses, central venous and arterial catheterization, hemodinamic support, chest tubes application, hypothermia, technical renal replacement (HD and Continuos Hemodiafiltration), plasmapheresis, ECMO (extracorporeal membrane oxygenation)
• CHLN facilities allows management of patients in outpatient, day care, admission and non-presential (by phone or e-mail) scenarios, with 24h/7 open access to both pediatric and adults emergency departments and 24h/7 on call MD pediatric and adult physicians
• CHLN provides Daycare treatment facilities, properly equipped with human and technology providers, assuring that patient treatment takes place in qualified specific clinical areas, easily accessible, clean, comfortable, quiet and secure
• 24/7 access to emergency room and chemistry, imagiology and physiology priority studies; to adult and pediatric ICU; to emergency dietitian and pharmacy support. Access to specific diet and orphan drugs
• Access to social care organization for insurance counselling and orphan drug treatment, and supportive devices (wheelchairs, etc.), Rare Disease Card, rehab organization.