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.
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.
These tests serve to determine the origin of the kidney disease. There are many causes that may be genetic or acquired via a bacterial or viral infection, or resulting from a metabolic disease (diabetes) or an autoimmune disease such as lupus.
In addition to blood and urine tests, a kidney biopsy and/or a genetic analysis, imaging tests can also be useful.
A kidney biopsy may produce minimal bleeding that almost always stops by itself. If it doesn't, it can be controlled using an interventional radiology procedure, whereby the kidney is catheterised to close the area of bleeding. Genetic testing is increasingly used to decrease the need for a kidney biopsy. However, kidney biopsy continues to be the main diagnostic method for kidney disease.
Blood tests are one of the most frequent medical tests. They involve taking a blood sample from the patient that is then analysed in a laboratory.
Taking the blood sample is simple, the healthcare professional just needs to puncture a patient’s vein with the right type of calibre needle, depending on the patient, and fill the prepared tubes, depending on what needs to be analysed.
The puncture is usually done on the inside of the elbow, and, before doing so, the nurse places a compressor on the arm, normally a rubber band, so that the blood vessels fill up and the blood can be taken more easily. Sometimes it is difficult to puncture this area and alternative locations are used, such as the back of the hand and, especially in children, feet and neck and groin veins.
Once the professional has decided where to make the puncture, it must be cleaned with antiseptic solution before the needle is inserted.
In some cases, patients need to remain still during the extraction, but this is not always necessary. It all depends on the type of analysis required.
Information about the composition of the patient’s blood can be used for many different purposes. For this reason, not all the components of the sample are ever analysed, but rather those components that the doctor decides are useful, depending on the signs and symptoms the patient presents or what they need to know about the patient’s state of health. Blood tests can be requested to:
The most commonly used parameters in blood tests offer an overall view of the patient’s health status using different indicators:
There are specific studies that should be carried out depending on each specific case, for example immunological studies, genetic analysis, etc.
Although complications are not usual, some may occasionally occur:
There are no alternatives for taking blood samples.
Kidney diseases affect how the kidneys function, as they are responsible for filtering blood and removing waste. Maintaining a balanced diet, proper hydration, and healthy habits is key to preserving kidney function and preventing complications.
The kidneys benefit from a healthy diet, from a relatively high intake of water and from avoiding tobacco. Regular bowel and bladder movements are also essential. Constipation and delaying urination are both damaging to kidney function.
Plain water without anything dissolved in it is necessary for good kidney function, apart from liquids such as milk and broth and drinks such as tea and coffee. The amount of urine a healthy person produces varies depending on how much water they drink, the air temperature, whether they are at rest or doing exercise, etc. A healthy adult would normally required 1 to 2 litres per day. Kidney function does not necessarily improve if excessive water is consumed.
Exercise and a diet rich in fibre encourage healthy bowel and bladder movements and improve kidney function. In terms of related conditions, often diabetes, good metabolic control of the diabetes is essential to preserve good kidney function. Controlling arterial pressure, which often has an unknown cause, is also vital to maintain good kidney function.
A urinary tract infection is the presence of bacteria in the urinary tract, which is normally sterile. It can affect the lower urinary tract (bladder or urethra) or the kidneys, known as pyelonephritis. Common symptoms include pain during urination, frequent urination, or fever. Treatment usually involves antibiotics.
Infections of the lower urinary tract are characterised by localised pain, which increases when urinating, and sometimes by cloudy or dark urine, usually without high temperatures.
Kidney infections (pyelonephritis) are characterised by high temperatures, acute local pain in the lower back, and pain or irritation when urinating.
Urinary tract infection is characterised by the presence of local pain (lower abdomen or lumbar region), which increases when urinating. The urine is often cloudy, or dark if it contains blood. There may be high fever, especially in the case of pyelonephritis (an infection of the upper urinary tract).
It can affect people at any age, from early childhood to old age. It is more frequent among women and there are factors that make people vulnerable to it (pregnancy for women and enlarged prostate for men) as well as urological anomalies (pre-existing malformation or presence of kidney stones).
Urinary infections are diagnosed by examining urine under the microscope (sediment) to see whether it contains white blood cells and/or bacteria, and by cultivating the bacteria in a microbiological culture to identify the strain and determine the most appropriate antibiotic for treatment (antibiotic susceptibility testing).
Urinary tract infections are usually treated with antibiotics. Treatment is oral in the case of lower-tract infection.
For upper-tract infections (pyelonephritis) it is usually intravenous, although in some cases outpatient oral treatment may be administered.
The standard tests are urine sediment and culture (urine culture with antibiotic susceptibility testing). An ultrasound scan may be indicated for examining the kidney and urinary tract and identifying obstructions or kidney stones that may have brought about the infection.
Ultrasounds are also used to assess the state of the kidneys. A general analysis may also be indicated to see how the urinary tract infection is affecting the rest of the body, and specifically the renal function.
Urinary tract infection can be prevented by frequent urination (every 2 to 3 hours) and, above all, by avoiding the habit of holding in urine, and by going to the toilet whenever the bladder feels full, without waiting too long.
Scleroderma is a rare autoimmune disease that causes excess collagen production and hardening of the skin. It can also affect organs such as the lungs, heart, kidneys, or digestive system. One of the most characteristic symptoms is Raynaud’s phenomenon, with color changes in the fingers triggered by cold. Treatment focuses on controlling symptoms and complications depending on the organs involved.
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.
Hyperthyroidism is a condition caused by an excess of thyroid hormones, which accelerate metabolism and affect body temperature and heart rate. It can occur at any age, but is more common in women. Diagnosis is made through hormone blood tests, and treatment includes medication, radioactive iodine, or other measures to control the effects of hormone excess.
The thyroid gland, which is located in the anterior part of the neck and is shaped like a butterfly, produces thyroid hormones, which regulate the metabolism of the entire human body. They therefore influence, for example, our temperature and heart rate. The main causes of hyperthyroidism are: Graves’ disease (when an antibody against the body’s own thyroids is produced), a toxic multinodular goiter (makes too much thyroid hormone), and thyroiditis (inflammation of the thyroid of unknown origin).
The most common symptoms are altered heart rate, feverish temperature, nervousness and sweating, dry skin and unexplained weight loss.
It can affect people of all ages, but particularly women from adolescence to menopause.
Hyperthyroidism is detected by finding thyroid hormones in the blood, as well as the pituitary hormones tasked with regulation of thyroid hormones.
Treatment is aimed at reducing the action of excess thyroid hormones. Drugs are used that antagonise the hormones, usually orally. Drugs are also prescribed to slow heart rate. In some cases, radioactive iodine is administered to partially deactivate the hormone-producing thyroid cells in a controlled manner.
The most common test is a blood test. Other additional tests include thyroid scintigraphy and thyroid ultrasound.
In order for the thyroid gland to function normally, moderate consumption of iodised salt is recommended, as iodine is an essential component of thyroid hormones.
Kidney diseases affect the ability of the kidneys to filter blood, regulate minerals and blood pressure, and produce red blood cells. Early detection, medical monitoring, and appropriate treatments can slow progression and prevent serious complications.
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.
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.
The treatment of kidney failure has four fundamental pillars: controlling high blood pressure when present, managing elevated urea levels, addressing mineral salt imbalances (sodium, potassium, calcium, phosphorus, magnesium), and controlling acidosis and anemia.
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 involving expert professionals from different medical specialties, personalized nursing management, psychological support, and social work, among other services.
At Vall d’Hebron, more than 200 specialist professionals care for over 40,000 patients with rare diseases. We are one of the hospitals in Spain that treats the highest number of rare conditions and one of the leading centers in Europe in this field. As of 2025, we are part of 20 European Reference Networks for rare diseases (ERN), 43 Spanish reference centers (CSUR), and the 12 expertise networks of the Department of Health (XUEC). This makes the hospital a highly specialized center for caring for these diseases throughout the entire life journey—from birth to adulthood—through a networked system that allows sharing resources and expertise with other hospitals and centers in the region.
The professionals across the various units and centers aim to improve patient access to diagnosis, information, and personalized care, as well as support research through:
The Rare Diseases Committee aims to establish a common framework for rare disease care at the hospital, identify and align the different initiatives (clinical, training, and research), deploy prioritized action lines, and monitor and evaluate outcomes in order to propose and implement improvements.
The concentration of patients with rare diseases increases knowledge and promotes research. Our Research Institute (VHIR) is a leader in both basic and clinical research. More than 14 basic research groups focus on studying rare diseases to improve diagnosis and develop new therapeutic approaches. We are the center in Spain with the highest number of clinical trials involving orphan drugs, including gene therapies, and we have a leading unit dedicated to the development of advanced therapies.
For more information, you can contact the rare disease team at: minoritaries@vallhebron.cat
Haemophilia is a very rare congenital disorder resulting from a lack of clotting factor VIII (haemophilia A) or IX (haemophilia B). Type A affects 1 in 5,000 children and type B affects 1 in 30,000. The gene whose code carries instructions for building the proteins for these factors is located on the X chromosome. For this reason, women carry this genetic mutation but it affects men. Despite this, in most cases there is no family history of haemophilia.
Plasma levels of clotting factor VIII or IX determine the severity of this disorder and classify it as severe, moderate or mild depending on whether levels are below 1%, between 1 and 5%, or over 5%, respectively. Spontaneous haematoma during the first few months of life or caused by minor trauma are the key sign of the severe condition.
Although bleeding can be found in any part of the body, it typically occurs within a joint (haemarthrosis), mainly in the ankles, knees and elbows. It generally appears before two years of age and represents 70-80% of all haemorrhages. Repeated bleeding in the same joint ends up causing irreversible damage that affects function (haemophiliac arthropathy). Intramuscular haemorrhaging is the second most common after haemarthrosis, and intracranial bleeding the most serious.
In moderate cases, clinical signs are similar to those of the severe disorder, apart from spontaneous haemorrhaging; and in mild cases diagnosis is reached by spotting an anomaly in blood clotting tests, by bleeding after a tooth extraction or surgery, or following a familial study.
A suspected diagnosis begins by asking about a patient's personal and family history of bleeding. Basic blood clotting tests show increased time for the blood to clot (activated partial thromboplastin time) and it is confirmed by verifying low levels of clotting factors VIII or IX. Genetic testing refines the diagnosis by identifying the mutation causing the disorder. This procedure can also identify potential carriers and may be used for prenatal diagnosis.
Treatment is replacement therapy, which is the intravenous administration of the deficient factor in the case of acute bleeding, before any aggressive exploratory or surgical procedures take place. Factor VIII and IX concentrates may be human plasma or recombinant engineered using biotechnology. In mild cases, other drugs may be used such as desmopressin, a synthetic derivative of vasopressin.
For cases of severe haemophilia, preventative treatment should be started before two years of age or after the first haemarthrosis in order to avoid serious complications in the joints producing repeated haemorrhaging, and also to act as a preventative treatment against brain haemorrhaging. For haemophilia A, factor VIII must be administered three times a week, and twice in the case of haemophilia B. New treatments being developed will allow infusion therapy to be more spread out in the future.
Plasma and recombinant factors currently effectively and safely control and prevent bleeding. The most serious complication of treatment is the possible appearance of an inhibitor. This appears in 30% of severe haemophilia A and in 2-4% of haemophilia B cases.
Because this is a complex and chronic condition, it is advisable to have a multidisciplinary team that includes specialists in haematology, hepatology, infectious diseases, orthopaedic surgery, physiotherapy and rehabilitation, odontology, obstetrics, genetics, psychology and nursing. Educational programmes to show family members how to administer intravenous treatment at home, prenatal diagnosis and genetic counselling are essential.
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.
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