We are the combination of four hospitals: the General Hospital, the Children’s Hospital, the Women’s Hospital and the Traumatology, Rehabilitation and Burns Hospital. We are part of the Vall d’Hebron Barcelona Hospital Campus: a world-leading health park where healthcare plays a crucial role.
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Hereditary metabolic diseases (HMDs) are a group of rare genetic disorders. The genetic defect causes a structural alteration in a protein that is involved in one of the metabolic pathways, causing it to block the affected pathway. As a consequence, this causes a build up of substances that may be toxic for the body and a deficiency of others that it needs.
Hereditary metabolic diseases (HMD) are chronic progressive multi-system illnesses that may appear at any age and that in most cases pose diagnostic and therapeutic challenges. Our Unit has been recognised as a leader within Spain (CSUR) and Europe (ERN) for this pathology and takes part in the neonatal screening programme in Catalonia. We are the only centre in Catalonia to offer complete care from paediatrics to adults with particular expertise in lysosomal storage disorders.
HMDs are divided into:
- Intermediary metabolism HMD: usually with acute symptoms.
- HMD related to the organelles (lysosomal storage disorders, peroxisomal diseases, mitochondrial disorders and endoplasmic reticulum storage diseases): chronic presentation with no decompensations (with the exception of some mitochondrial disorders)
Multiple systems in the body are affected and different organs and systems are involved with varying symptoms depending on the disorder and the patient’s age. These disorders require a coordinated approach to care and programmes to manage the transition to adulthood.
Many symptoms become evident during childhood in the form of delayed physical growth and delayed psychomotor development. There may be associated heart problems, kidney conditions, and at times decompensations leading to liver or kidney failure and neurological impairment. In the case of organelle disorders, symptoms are chronic and affect the bones and organs of the senses in greater measure. They are more common in adults than intermediary metabolism disorders.
Diagnosis is carried out by:
They are chronic disorders that need to be treated in specialised centres with multidisciplinary teams to provide support for all related health problems.
The following may be necessary, depending on the type of disorder:
Prevention consists of thorough genetic and reproductive counselling if there is a family history of the disease. Early diagnosis of some diseases through the neonatal screening programme enables effective treatment and improved prognosis.
Pulmonary atresia with ventricular septal defect is a rare heart condition characterised by a lack of connection between the right ventricle and the pulmonary arteries.
This is a rare congenital heart defect characterised by no connection between the right ventricle and the pulmonary arteries. It is an extreme type of Tetralogy of Fallot in which blood enters the lungs to be oxygenated by bypassing the heart.
Blood can reach the lungs via the pulmonary arteries themselves, which are not connected to the heart, or via the collateral arteries, which originate from the thoracic aorta and directly supply the lung. There are significant anatomical differences between vessels which must be studied in each individual child.
This condition is very heterogeneous, which creates the variability seen in the pulmonary arteries. Two groups can be distinguished:
The prognosis of this disease depends on the growth of the pulmonary arteries to be able to surgically repair the condition.
It is a rare congenital heart condition which makes up 1-2% of all congenital heart defects.
In most cases, diagnosis is via foetal echocardiogram. This ultrasound will show the lack of connection between the heart and the pulmonary arteries, as well as the presence of VSD. Through this test the size and position of the pulmonary arteries can also be measured.
When a child is born, it has a certain quantity of oxygen, known as “saturation”, in its blood which is around 80-90% of the normal level, although this is enough for the child to develop normally.
Hematopoietic Stem Cell Transplant (HPSCT) is the definitive treatment for many primary immunodeficiency disorders (PID). It is a total replacement of the blood cells in our body. It is also called a bone marrow transplant (BMT).
The aim of this treatment is to regenerate a haematopoiesis (the process by which the different types of blood cells form, mature, and circulate from stem cells), which has been eliminated by administering drugs or ionizing radiation, followed by the implantation of the donor's immune system, which is able to recognise and attack the malignant cells in the patient.
In this way, the bone marrow stem cells (factory of the defences) are changed for those of a healthy person (the donor). To undergo this process the patient is admitted to hospital for between one and three months.
1st step:
2nd step:
3rd step:
Treatment of kidney diseases focuses on controlling factors that affect kidney function, such as blood pressure and metabolic imbalances. Accurate diagnosis helps tailor treatment and slow disease progression.
There are three different levels of treatment:
a) medical, with the use of medication or hormones to substitute the alterations mentioned. A diet that creates little urea or that contains low levels of potassium, drugs to control excess or lack of sodium, potassium, calcium, phosphorus, magnesium or acidity. And medication to treat anaemia.
b) extrarenal purification methods: haemodialysis (passing the blood through an external circuit to purify it and filter out toxic substances using a suitable filter), and peritoneal dialysis, during which a solution is circulated inside the patient's peritoneal cavity and is then extracted, taking the toxic substances usually expelled through urine with it.
c) kidney transplant from a living or deceased donor. In this instance, the new kidney takes over the functions of the diseased kidney. How long a kidney graft lasts varies and relies on controlling episodes of organ rejection that may occur after transplant. A young patient with kidney insufficiency may require more than one kidney transplant over their lifetime, although the useful life of these grafts is increasing day by day thanks to new immunosuppressant drugs.
In addition to providing multidisciplinary care for patients of all ages who suffer this condition, the objectives of Vall d’Hebron Hospital’s Hereditary Angioedema Unit include teaching and research in this field.
The Hereditary Angioedema Unit (UAEH) of Vall d’Hebron University Hospital’s Allergology Department has been treating patients with this disorder for more than 25 years.
UAEH outpatients are treated by allergology specialists in a multidisciplinary manner in the Outpatient Clinic in the Old Nursing School and in the Children’s and Women’s Hospital, ensuring transference and continuity of care from childhood through to adulthood for this genetic, lifelong condition.
The Clinical and Molecular Genetics department consists of: the Clinical Genetics Consultation, the Rare Diseases Functional Unit and the Genetics Laboratory.
The Clinical and Molecular Genetics department is a reference centre in Catalonia in the diagnosis and care of patients with rare genetic diseases, and we are also responsible for significant research and teaching activity.
Our clinical genetic consultation offers comprehensive care for patients with genetic illnesses and their families, based on diagnosis, monitoring, management and genetic counselling.
This disease consists of a hole in the partition that separates the right and left chambers of the heart, and a malformation of the mitral valve.
Patients with an atrioventricular septal defect have a hole in the wall between the left and right sides of the heart and a malformation of the mitral valve, which is the valve that regulates blood flow from the left side of the heart.
In the case of a partial atrioventricular septal defect, the upper part (atrial) or lower part (ventricular) part of the partition may be affected. In the case of a complete atrioventricular septal defect, the hole affects both the atrial and the ventricular chambers of the partition.
This heart condition may or may not present symptoms, depending on the size of the interatrial hole and the insufficiency of the mitral valve.
Where there are symptoms, the most common are those related to heart failure:
This is carried out through an echocardiogram to identify the presence of a defect and the degree of mitral insufficiency.
This heart disorder is corrected through surgery, during which a patch is used to close the atrial septal defect and the mitral valve is repaired by closing the hole. The ideal age to repair a partial AV defect is from 1 to 4 years old.
The vast majority of patients with a repaired defect of this type have a similar life expectancy and quality of life to the general population. If it is not corrected, patients may develop pulmonary hypertension, a disease with drastically reduced survival rates from around thirty or forty years old.
Complete atrioventricular septal defect is a congenital heart condition caused by a hole in the wall separating the left and right chambers of the heart.
This is a congenital heart defect caused by a hole in the wall separating the left and right chambers of the heart. This communication affects both the atria (the upper chambers) and the ventricles (lower chambers).
The cause of the defect is the formation of endocardial cushions, which are responsible for the creation and joining of the atrioventricular valves with the cardiac septum, the wall that separates the two chambers.
This heart defect is also characterised by having just one atrioventricular valve in place of two; the tricuspid and mitral valves.
Children with this heart defect show classic symptoms of heart insufficiency or failure. This includes frequent respiratory infections, difficulty feeding and gaining weight.
This makes up 4 % of all heart disease and around half of the heart defects that affect children with Down's syndrome.
Diagnosis is via 2D echocardiogram.
New-born babies tend to undergo surgery for this heart defect when they are six months old. The procedure consist of closing the interventricular or interatrial hole using a patch. The atrioventricular valve is also reconstructed to create a valve on the right side and another on the left.
In children under six months with severe symptoms, a prior palliative procedure called pulmonary cerclage is carried out. This procedure is carried out by narrowing the pulmonary artery using a band to decrease excessive pulmonary flow.
They are inherited diseases affecting the heart and aorta. A range of diseases are included such as myocardiopathies, conduction diseases, and genetic aortopathies.
Myocardiopathies are diseases of the myocardium, the muscular tissue of the heart. There are several types of myocardiopathy: dilated, hypertrophic, non-compaction, arrhythmogenic dysplasia of the right and/or left ventricle and restrictive. Imaging techniques are used for diagnosis. Medical treatment and, where necessary, fitting a resynchronisation defibrillator can avoid complications and improve patients’ quality of life.
Pharmacological provocation tests are important for diagnosis of conduction diseases such as Brugada syndrome, long QT and short QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Treatment is medical and sometimes a defibrillator device may need to be fitted.
Inherited aortopathies, or diseases of the aorta, such as Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome require imaging techniques to diagnose them accurately. Medical treatment and elective surgery prevent complications arising.
Symptoms of inherited heart disease are:
The prevalence of these disorders varies between 1/500 for hypertrophic myocardiopathy, 1/5,000 for conduction disorders and 1/5,000-10,000 for Marfan syndrome. Some of these diseases can therefore be said to be rare.
Diagnosis is reached using:
Treatment may require aortic surgery, the use of a resynchronisation automatic defibrillator implant or septal ablation.
Knowing the family medical history is important for all inherited heart diseases. Family screening can detect undiagnosed cases and lead to early treatment, and in some cases, preimplantation diagnosis.
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