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.
Patients are the centre and the core of our system. We are professionals committed to quality care and our organizational structure breaks down the traditional boundaries between departments and professional groups, with an exclusive model of knowledge areas.
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The commitment of Vall d'Hebron University Hospital to innovation allows us to be at the forefront of medicine, providing first class care adapted to the changing needs of each patient.
Scleroderma is an autoimmune disorder characterised by increased collagen in various body tissues, structural alteration of microcirculation and certain immune abnormalities. The term scleroderma comes from the Greek “skleros”, which means hard, and “derma”, which means skin. This indicates that skin hardening is the most characteristic feature of the condition. As well as the skin, it can also affect the digestive tract, lungs, kidneys and heart. The prognosis varies. There is currently no cure, but the condition can be treated with general measures and treatment of symptoms, depending on the organs affected.
Raynaud syndrome: one of the most characteristic manifestations of the condition (97% of cases), it is the first clinical expression in most patients. It is caused by vasoconstriction of the capillaries. Patients report that with the cold their fingers change colour and turn pale (like wax) first, then turn blue after a while and finally turn reddish. The presence of Raynaud syndrome is not always an indication of scleroderma. In reality, only 5% of people with Raynaud syndrome later develop the condition. Almost half of sufferers may have digital ulcers, as an expression of a severe microcirculatory injury.
The most peculiar manifestation of the disease is the way it affects the skin. It is hard, tight and wrinkle-free (hard to pinch). The extent of the skin condition varies and is related to the prognosis. Two clinical forms are distinguished: limited (distal skin condition to elbows and knees) and diffuse (distal and proximal skin condition to elbows and knees, and torso). The face can be affected equally in both clinical forms. The limited subtype has a better prognosis than the diffuse one. Reduced aperture of the mouth (microstomy) may also be seen. In the skin there are hyperpigmented and coloured areas, telangiectasia (accumulation of small blood vessels) and sometimes subcutaneous calcium deposits can be felt (calcinosis).
Most patients experience joint and muscle pain, and in extreme cases contraction and retraction of the fingers are observed. When the digestive tract is affected, which often happens, the patient complains of a burning sensation and difficulty swallowing, as the oesophagus has lost its ability to move food towards the stomach. Pulmonary disease is the leading cause of death and may occur in the form of fibrosis or pulmonary hypertension; coughing, choking and heart failure are the main manifestations of lung involvement. When the heart is affected, heart rhythm disturbances and in some cases symptoms of angina pectoris are detected, due to the involvement of the small coronary vessels. In a small percentage (about 5%) scleroderma alters the kidney (scleroderma renal crisis) and manifests itself as malignant arterial hypertension and kidney failure.
It should be noted that not all patients with scleroderma present all the manifestations described above. It can also be concluded that there is great, almost individual, variability in the clinical expression of the disease.
Scleroderma is a rare disease with an incidence of 4-18.7/million/year and a prevalence of 31-286/million. It is more common in females, with a variable ratio, depending on the series, ranging from 3:1 to 14:1 (female/male). The age at which it presents is around 30-40 years.
When the above symptomatology is clear, the diagnosis does not offer too much room for doubt. Various complementary tests are helpful in confirming diagnosis and in assessing the degree of involvement of the various organs that may be affected.
“An incurable, but not untreatable condition”. There is currently no treatment for scleroderma that has satisfactory results, but this does not mean that it cannot be treated. Treatment is symptomatic, depending on the organ affected. For Raynaud syndrome: vasodilators, antiplatelets; gastro-oesophageal reflux: proton pump inhibitors; renal crisis: angiotensin converting enzyme inhibitors/dialysis; pulmonary fibrosis: immunosuppressants/lung transplant; pulmonary hypertension: vasodilators/lung transplant. In patients with the diffuse form and less than three years of evolution, immune modulators such as mycophenolate sodium (or mycophenolate mofetil) or methotrexate may be indicated as a basic treatment.
The most common tests to confirm and/or assess the degree of involvement of the various organs are: general analyses and immunological data (specific antinuclear antibodies); capillaroscopy, high-resolution computerised axial tomography scan of the chest, respiratory functional tests, oesophageal manometry and echocardiogram. In the follow-up for these patients, respiratory functional tests and an echocardiogram should be performed annually.
Kidney disease encompasses a wide range of conditions that compromise the normal functioning of the kidneys. Their main purpose is to purify the blood of different composites, regulate their composition of mineral salts and acidity and contribute to the normal formation and maintenance of bones. They also support the creation of red blood cells and regulate arterial pressure. Kidney disease is characterised by a change in the functions described: higher levels of urea in the blood, excessive potassium or phosphorus, excessive blood acidity, bone pain and anaemia.
Kidney disease is measured by the stage of renal insufficiency, which increases from 1 to 5; the most advanced stage at which the kidneys have ceased to function. During stages 1 to 4 there are different medical treatments that can slow or compensate for renal insufficiency. At stage 5, patients have to undertake extrarenal purification techniques such as haemodialysis or peritoneal dialysis. In this case, the possibility of a kidney transplant will always be considered, which would allow a normal life free from dialysis but would require taking immunosuppressant medication to prevent rejection of the transplanted organ.
Renal insufficiency is usually detected with a simple blood test. Symptoms tend to be tiredness and generally feeling unwell caused by a build-up of urea, anaemia or both factors together. The patient may also have a headache if their arterial pressure is high.
All age groups. In childhood, there is often a genetic cause. In adults, it may be due to other illness such as diabetes, immune diseases or infectious diseases. It may also manifest due to the late appearance of genetic diseases in adults.
Renal insufficiency is diagnosed with a simple blood test. Establishing the cause of the renal insufficiency is more complicated. Often, a kidney biopsy and genetic testing will be needed.
Typical tests include blood tests, ultrasound, nuclear magnetic resonance imaging, kidney biopsy and genetic testing.
Initial treatment consists of substituting or compensating for the aforementioned alterations. During later stages, haemodialysis or peritoneal dialysis may be used, and in the case of terminal renal insufficiency, a kidney transplant may be carried out; from a deceased or a living donor.
Drinking a reasonable amount of water a day contributes to good kidney function.
Minority diseases, also called rare diseases, are those that affect between 5% and 7% of the population. They are very varied, affecting different parts of the body with a wide range of symptoms that change both between diseases and within the same disease. It is estimated that some 30 million people in the EU, 3 million in Spain, and around 350,000 in Catalonia suffer from one.
The complexity of most rare diseases requires multidisciplinary care with professionals from different medical specialities, case management for nursing, psychological support and also social work.
The Vall d'Hebron Barcelona Hospital Campus is home to more than 100 specialist professionals dedicated to the care of more than 2,000 rare diseases. Apart from treating the most rare diseases of any centre in Spain, it is one of the leading hospitals in Europe in this field. In fact, Vall d'Hebron is part of 20 European reference networks, known as ERN. This makes this hospital a highly specialised centre for rare diseases, from birth to adulthood, through a networked system that allows sharing of resources and knowledge with other world-class hospitals.
Adult and child
Pediatric
This concentration of patients with rare diseases at Vall d'Hebron improves knowledge and promotes research. Research in this field focuses above all on improving diagnostic capacity for diseases that are often difficult to diagnose and on developing new treatments for those diseases. In the case of diseases with few patients, publicly funded research is often the main avenue for the discovery of new drugs, and public health is the framework that provides the public with access to high medication complexity.
For more information, contact the Rare Disease Team at the following email address: minoritaries@vallhebron.cat
These syndromes are a group of diseases characterised by insufficient blood cell production (anaemia, neutropenia and thrombocytopenia), constitutional malformations and the risk of cancer.
They are usually diagnosed in childhood but there some cases diagnosed in adults. Specifically, these syndromes are: Fanconi anaemia, dyskeratosis congenita or selectively severe congenital neutropenia, Diamond-Blackfan anaemia, Diamond-Shwachman syndrome, and amegakaryocytic thrombocytopenia.
Malformations caused by inherited bone marrow failure syndromes affect the skin, bones, heart and digestive system as well as the urinary system, the central nervous system, and others. They may also affect the area around the bone marrow.
Besides this, they also increase the predisposition to cancers such as acute myeloid leukaemia, myelodysplastic syndrome and squamous carcinoma of the head, neck and reproductive organs.
These syndromes have important biological pathways in common related to cell growth and division such as the activation of the p53 gene that is responsible for halting the cell cycle, cell ageing and cell death. In addition, mutations have been identified in more than 80 genes.
Although this is treated in childhood, once the patient reaches adulthood monitoring is very important. Early diagnosis of these syndromes is essential to ensure the patient receives appropriate treatment. The aim is to minimise toxicity at the same time as allowing genetic counselling, and implementing strategies for cancer prevention and monitoring. This treatment should focus on treating the bone marrow failure, but also any constitutional malformations and extra-haematological manifestations, in addition to cancer treatment.
A multidisciplinary team of specialists with extensive experience of these diseases is necessary to ensure optimum patient care.
The first symptoms are related to a lack of blood cell production:
There are also signs related to malformations such as:
Estimated incidence rates of the different syndromes are:
The usual tests to detect inherited bone marrow failure are:
The following methods are used to treat these pathologies:
To prevent these diseases it is important to avoid smoking, alcohol, sun exposure, and to have a balanced diet. In addition, a cancer prevention programme should be followed with regular visits to the Cancer Prevention Unit and the Ear, Nose and Throat, Maxillofacial and Gynaecology departments.
Together with haemodialysis, peritoneal dialysis is an extra-renal filtration procedure. Kidney failure is treated with dialysis, a word that means “pass through”, and which uses the patient’s peritoneum as a filter. The peritoneum is the membrane that lines the abdominal cavity and it has a large surface area of around one square metre. This peritoneal membrane can filter out substances that need to be removed from the body (urea, potassium, phosphorus and many others) when filled with a glucose-rich dialysis fluid that encourages waste to be passed from the patient’s blood into it.
The procedure is as follows: a catheter is inserted into the navel for introducing the dialysis fluid. This fluid is left in the peritoneal cavity for some time and then exchanged for new fluid. This is repeated several times.
Peritoneal dialysis can be performed at the patient’s home and also at night, which is an important factor to maintain the patient's quality of life.
Possible complications of peritoneal dialysis are peritonitis or infection of the dialysis fluid which can lead to infection and inflammation of the peritoneum. Treatment with antibiotics is effective for this complication.
Haemodialysis is usually considered to an intermediary step between advanced kidney failure and a kidney transplant.
Haemodialysis is an extra-renal filtration procedure that replaces kidney function using an external system. It acts as a filter for the patient's blood by connecting to the patient’s circulatory system via a catheter or by being directly inserted into the vein, usually in the arm. In other cases, an arteriovenous fistula may be created, connecting an artery to a vein beneath the skin on the arm. When an artery is connected to a vein, pressure in the vein increases, strengthening the vein walls. This stronger vein is able to withstand the needles used in haemodialysis and greater blood flow is achieved.
People with kidney failure starting a haemodialysis programme typically have less than 10% of normal kidney function. Above this figure, haemodialysis is usually not necessary.
Haemodialysis must be performed regularly in four-hour sessions, usually three times a week, although the duration and frequency will depend on the patient and their circumstances.
Haemodialysis is based on biophysics in the sense that the blood passes through a filter and exchanges substances with the fluid on the other side of the filter, which is circulated by a machine. The exchange gets rids of the urea, potassium, phosphorus and other waste substances that build up due to lack of kidney function. These substances partly pass through the membrane by themselves, as there are different concentrations of the substances and they tend to equalise, and is also due to the changes in pressure exerted by the haemodialysis machine.
Possible complications of haemodialysis are the infection of the catheter or being unable to find a viable vascular access site in patients who have had dialysis for many years.
Haemodialysis may continue for years, although it is usually an intermediate step between kidney failure and transplant.
A kidney transplant is the best treatment for chronic kidney failure and significantly improves the quality of life for patients with a lack of kidney function and who need haemodialysis or peritoneal dialysis. Nowadays this is a routine procedure, which is not risk-free but which does allow patients subsequently to lead a normal, or close to normal, life. The transplant process consists of surgery to connect the renal artery and vein and also the ureter of the transplanted kidney to the recipient's bladder.Following a few hours in the Intensive Care Department for monitoring, the patient will be transferred to the nephrology ward and will remain there for a few days before progressively resuming their normal life.
It is very important to consider that people who receive a kidney transplant will have to take medication for the rest of their lives to ensure the body does not reject the transplanted organ. Regular appointments to monitor the functioning of the transplanted kidney and the levels in the blood of medication used to control rejection are also necessary. The medication used partly reduces the body’s defences and can allow opportunistic infections and neoplastic diseases to occur. Strict monitoring of immunosuppression levels must therefore be carried out at all times. A kidney biopsy may be necessary at different stages of the kidney transplant’s evolution in order to determine the condition of the organ, as blood tests only give an indirect indication. The life expectancy of patients who have had a kidney transplant may be similar to that of the general population, but other factors mentioned must be taken into account in addition to cardiovascular health such as weight, blood sugar levels and lipids in the blood in addition to arterial pressure.
Performing a kidney transplant requires careful preparation once the patient is experiencing kidney failure. A kidney donor must be found. This may be a living donor or a kidney from a deceased person. Outcomes are very good in both instances, and the choice of which to use depends on the personal situation of each patient. For example, a kidney from a living donor would be chosen if someone volunteers to donate and if compatibility tests carried out before the transplant are positive. If there is no donor, a kidney from a deceased donor will be considered, providing the compatibility tests are positive.
Diagnostic tests related to kidney transplant include the assessment performed before it is carried out. These are general assessments of the recipient's health to ensure they will be able to recovery from the surgery without any issues and also immunology tests to minimise the risk of organ rejection. Tests to prepare for the transplant include imaging tests (ultrasound and CT scan) to determine the implantation area, compatibility tests, and subsequent follow-up tests for monitoring (ultrasounds and blood tests).
To ensure the success of a transplant, in other words, good initial function that lasts over time:
Over 500 transplants are carried out in Catalonia every year, with very good transplanted kidney survival rates. However, this is variable and cannot be predicted in each case. As advances in knowledge and technology are made, we are increasingly able to accurately monitor and control transplanted kidneys to lengthen their lifespan.
Biotechnology and translational research (which creates a network of different biomedical specialisations) will be able to make important advances over the coming years. The success of kidney transplants nowadays is largely down to the precise nature of the medication used to prevent rejection.
There are four basic parts to treating renal insufficiency.
Controlling arterial pressure, if it is high; levels of urea; the balance of mineral salts (sodium, potassium, calcium, phosphorus, magnesium); acidity and anaemia. Analytical testing provides a lot of information which enables the origin and severity of the kidney disease to be established.
A kidney biopsy allows a microscopic study that is often essential. Genetic testing also provides very important information.
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.
The Urology Teaching Unit is led by the Vall d’Hebron Urology Department, with participation from other specialisations such as General Surgery, Nephrology, Intensive Care Medicine, and Paediatric Urology.
Urology training itinerary
Urology deals with the study, diagnosis and treatment of medical-surgical conditions associated with the urinary and retroperitoneal system of both sexes. It also includes the male reproductive system of any age group, that may have congenital, metabolic, obstructive or oncological disorders, or injuries due to trauma.
The Nephrology Teaching Unit is led by the Nephrology Department, with participation from the Digestive System, Cardiology, Internal Medicine, Intensive Care Medicine, Infectious Diseases and A&E Departments.
Nephrology training itinerary
The Nephrology Teaching Unit has a resident training programme with the following key tracks: extensive training in internal medicine, specific training in nephrology, in-depth knowledge of treatment techniques for renal failure, practical knowledge on diagnosis and therapies in nephrology, and practical knowledge of the role of the nephrologist in community healthcare.
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