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.
Below we will list the departments and units that form part of Vall d’Hebron Hospital and the main diseases that we treat. We will also make recommendations based on advice backed up by scientific evidence that has been shown to be effective in guaranteeing well-being and quality of life.
Vols saber com serà la teva estada a l’Hospital Universitari Vall d’Hebron? Aquí trobaràs tota la informació.
Atopic dermatitis, also known as atopic eczema, is the most frequent chronic inflammatory cutaneous disease in children. It manifests with outbreaks of reddened skin with peeling –eczema– which are more or less extensive, with intense itchiness, causing the need to scratch. This causes wounds on the eczema which often become superinfected. It is a disease which affects the quality of life of patients and those around them.
Atopic dermatitis is a chronic inflammatory cutaneous disease. It is known for manifesting in outbreaks, being reversible and for unpredictable progression during the patient’s life. The most frequent cutaneous disease in children. Patients have very itchy, dry skin, as well as a hyperactive immune response to environmental factors. Intense itchiness leads to uncontrolled scratching, which causes wounds on the eczema. These can be complicated by infection and can cause great anxiety in patients and their families.
Atopic dermatitis is a multifaceted disease caused by a combination of many factors, including:
Common symptoms of atopic dermatitis are:
Clinical presentation, characteristics of symptoms and initial signs depend on the patient’s age but, in all cases, axillary and inguinal folds are usually unaffected.
The most frequent cutaneous disease in children. Usually begins during childhood and most cases are resolved during adolescence. Although some paediatric patients are affected by the disease until adulthood. Atopic dermatitis can also sometimes begin in adults, young adults or even at an advanced age.
Atopic dermatitis is always diagnosed according to clinical criteria and generally does not require complementary tests. Currently, diagnosis and assessment of the severity of the disease are clinical with the doctor examining the patient.
A skin biopsy should be considered to exclude other conditions, including early stage T-cell cutaneous lymphoma, psoriasis or dermatitis herpetiformis.
Atopic dermatitis is not an allergic condition but children with the disease may suffer:
If rhinitis, allergic conjunctivitis or any food allergy is associated or suspected, the patent will be referred to the Allergology Department.
The main goal of treatment is to maintain the skin free from eczema outbreaks. Therefore, hygiene measures will be prescribed to keep the skin moisturised and less susceptible to inflammation. External factors that can trigger skin inflammation should also be avoided.
Topical corticosteroids, topical immunomodulators and oral antihistamines are used to control minor to moderate outbreaks of atopic dermatitis in order to reduce inflammation and itchiness. Topical or oral antibiotics may be necessary in case of eczema superinfection.
Controlling severe outbreaks may require systemic treatment, such as:
Prevention is essential to avoid the inflammatory response associated with eczema:
Cancer is characterised by excessive and uncontrolled cell growth that invades and damages tissues and organs. It is a multi-factor illness that is caused by a combination of genetic and environmental factors. Most cancers are sporadic, but some 5 to 10% of cancer diagnoses involve a hereditary genetic origin. This means that specific genes, called cancer susceptibility genes, present germ cell abnormalities (found throughout the body) that increase the risk of developing cancer. It's important to point out that cancer is NOT hereditary, but the predisposition to developing it is. Having genes that are associated with cancer susceptibility simply means you have a higher risk of having the disease, not that you will have cancer for sure. This genetic predisposition can be transmitted from parents to offspring, normally following an autosomal dominant inheritance pattern, meaning that there is a 50% chance of passing the gene to descendants. In some cases, the genetic susceptibility is individual and caused by a combination of multiple genetic differences (a combination of low-risk polymorphisms or allele variants). Identifying a genetic abnormality known to increase the risk of developing cancer in a family allows its members to benefit from early cancer detection and prevention measures, as well as to seek specific, targeted treatments against that type of cancer.
There are different genes associated with an increased risk of falling ill with cancer. Among the most frequent and well known are the genes:
The genes APC and MUTYH, linked with familial adenomatous polyposis –the formation of a large number of adenomatous polyps (non-malignant tumours) in the colon– and colon cancer.
There are different clinical criteria that may arouse the suspicion that an individual has a hereditary genetic abnormality that predisposes them to certain kinds of cancer, such as:
When these criteria are detected, they are referred to the genetic assessment unit specialising in cancer, where the need to perform a genetic study to rule out the possibility of a hereditary predisposition to cancer will be determined. This multi-disciplinary unit is staffed by physicians who are specialists in hereditary cancer and genetic counsellors. Here, an individual risk assessment, genetic tests, and follow-up for the carriers of the gene are carried out.
There are different syndromes that involve a genetic predisposition to developing cancer. For example, there are different genes that can make someone have a genetic predisposition to breast cancer.The most common are:
The genetic predisposition to developing colon cancer can be divided into two types: polyposic and non-polyposic.
There are different types of polyposic colon cancer. Familial adenomatous polyposis (FAP) presents the highest risk for developing colon cancer. It is characterised by hundreds or thousands of polyps in the colon, and sometimes also throughout the entire digestive tract. These polyps are not malignant lesions, but they can degenerate and develop into cancer.Thus, individuals with FAP end up developing colon cancer if these polyps are not removed. Pathogenic alterations in the APC gene are responsible for this condition. In addition, carriers of APC gene mutations are also at risk for other tumours or conditions (hepatoblastoma, thyroid tumours, and desmoid tumours).
The main syndrome entailing a predisposition to non-polyposic colon cancer is Lynch syndrome. This syndrome entails a high risk of developing colon and endometrial cancer, along with a risk of developing ovarian, bile duct, urinary tract, and gastric cancer. It is caused by mutations in the genes that are in charge of DNA repair, specifically, those tasked with mismatch repair, namely MLH1, MSH2, MSH6, PMS2, and EPCAM.
We can also find a genetic predisposition to endocrine tumours. Pheochromocytomas and paragangliomas are rare tumours that are caused by a hereditary genetic abnormality in 40% of cases. These can be caused by abnormalities in the succinate-dehydrogenase-encoding genes (SDHx), RET gene (MEN2 syndrome), MEN1 gene, NF1 gene (neurofibromatosis type 1) or FH gene, among others.
A genetic diagnosis is usually done with a blood sample, but a saliva sample or skin biopsy can also be used. DNA (present in the nucleus of our cells) is extracted from this sample for analysis.
There are different techniques for carrying out genetic studies. Currently, at our centre, we perform gene panel studies. This entails analysing different genes linked with the genetic predisposition to cancer to rule out any abnormality in them; this is also called gene sequencing.
When a genetic abnormality is found in a family, a predictive study is carried out. This kind of study determines if an individual also presents the genetic abnormality detected in the family.
Depending on the genetic change found, different measures for early detection and prevention can be recommended. For example, individuals with a mutated BRCA1/2 gene should begin to undergo an annual breast check-up, with a breast MRI and a mammogram, from the time they are 25-30 years old. Individuals with Lynch syndrome should get annual colonoscopies from the age of 25 onward.
Depending on the type of genetic disorder, risk reduction surgeries can also be an option. For example, in individuals diagnosed with FAP, depending on the number of polyps they have, a prophylactic colectomy (removal of the colon) can be performed to reduce their risk of developing colon cancer.
Follow-up and prevention measures are determined on an individual basis in the corresponding specialist's medical consultation. Additionally, at the medical office in charge of hereditary cancer, a reproductive genetic assessment is offered, depending on the genetic abnormality.
Dystonia is a neurological disorder characterised by involuntary muscle contractions that cause repetitive movements and tortuous and painful stances every time the patient makes a learned movement, such as walking or speaking.
Dystonia that is detected in childhood can progress rapidly and interfere in the development of the child's language and mobility, causing a physical disability that will affect them throughout life.
Dystonia is a very heterogeneous disease, which can occur for a variety of reasons:
Due to its incidence, dystonia is considered a rare disease.
Dystonia in childhood can occur in isolation or associated with other neurological and development problems. It can cause difficulty in everyday tasks such as walking, speaking, feeding oneself and taking care of personal hygiene.
When presented in isolation it is called primary dystonia and often has a genetic origin. Children who suffer from it do not usually have other health problems and their neurological development is normal. At first it manifests itself in actions such as walking, running, or writing and, later, can spread to other parts of the body and cause widespread dystonia.
Myoclonic dystonia is one of the most frequent hereditary forms of dystonia in childhood. It is characterised by the presence of sustained (dystonic) and abrupt (myoclonic) muscle contractions and psychiatric disorders such as anxiety, depression and obsessive-compulsive features. The first symptoms appear in childhood and affect the lower limbs of children, who have difficulties walking, running and with sports. This disease also affects the social relationships of these children, who have problems speaking in public or eating and drinking with friends.
Dystonia can also be associated with other neurological problems, such as spasticity, ataxia, weakness, delay in neurological development and intellectual disability. In this case we call it secondary dystonia and it is necessary to rule out neurometabolic and neurodegenerative causes.
It affects children, adolescents, and adults of all ages.
First of all, patients are subjected to a series of clinical, metabolic, neurophysiological and neuroimaging studies to classify the type of dystonia, before carrying out genetic studies. In patients with myoclonic dystonia, first of all, a Sanger sequencing study is carried out to determine the gene that causes it, and in the other patients, a complete family exome sequencing(parents and patient) is carried out or the index case (patient) based on the DNA samples available.
Being a rare and very heterogeneous disease it is difficult to reach a correct diagnosis and treatment plan. It is important to distinguish hereditary dystonia from childhood cerebral palsy, caused by brain damage at birth, since its diagnosis has very important consequences for treating the disease later.
A diagnosis in time decreases the need to carry out more diagnostic tests, making it possible to form a prognosis and to advise families on avoiding future diseases. It also has a very positive psychosocial impact on the patient and family. And most importantly, an exact diagnosis of the cause that generates the dystonia makes it possible to guide the best possible treatment for each patient, in what we call personalised medicine.
Dystonia in childhood is progressive and debilitating, but can be prevented with early diagnosis and the use of specific therapies depending on the identified genetic defect.
Levodopa is the treatment of choice in dopa-sensitive dystonia, caused by a defect in the synthesis of dopamine. Botulinum toxin is used to control focal dystonia. In the case of widespread dystonia, different drugs are used to decrease tremors, muscle tone, and painful spasms. And in some cases of paroxysmal dystonia, which is characterised by brief and repetitive involuntary movements during the night, antiepileptic drugs are used.
An intrathecal baclofen pump administers liquid medication through a device that is placed under the skin, and is used to treat generalised secondary forms of dystonia. It reduces pain, decreases muscle tone and spasms. It is a treatment we call symptomatic and palliative, since it does not improve the motor function of the patient.
Deep brain stimulation or globus pallidus stimulation, two electrodes are placed in the globus pallidus using a stereotaxic technique, it is the treatment of choice in primary dystonia, especially if they are widespread and do not respond to conventional medication. In these cases children can recover the function of the area affected by dystonia and improve their quality of life. It can also be useful in patients with secondary forms of dystonia, although its effectiveness is less than in primary forms of dystonia.
Performing genetic testing is the best prevention to avoid having more children affected by this disease in the same family.
Campanya MoutePerLaDistonia
Associació de Lluita contra la Distonia Mioclònica a Espanya
Associació de Malalties Neurodegeneratives amb Acumulació Cerebral de Ferro
Associació GNAO Espanya
Cerebral palsy is a group of disorders affecting movement, posture and muscle tightness, caused by damage to the developing brain (in children up to approximately three years old). The severity of the symptoms varies widely: some patients can walk and lead independent lives, while others are more severely disabled. There may also be associated intellectual disabilities, problems with vision or hearing, problems when eating, seizures, etc.
These can be categorised according to the moment when the brain damage occurs: prenatal, perinatal and postnatal. Currently, the most frequent causes are: extremely premature birth, hypoxia of the brain during birth, and paediatric stroke.
In babies, we see slower psychomotor development, with difficulties in movements or activities. We usually see spasticity, which could be defined as increased tightness in a certain group of muscles. There are major musculoskeletal abnormalities, including spinal deformity, hip dislocation and ankle equinus.
Fundamentally clinical diagnosis, depending on the patient's history. But confirmation is needed by additional imaging tests such as cranial ultrasound and magnetic resonance imaging. However, these can be normal.
Unfortunately, there is no cure for cerebral palsy. However, we can deal with the pathology in different ways, both in prevention and in treatment:
No specific prevention is possible.
Apart from the physiotherapy and/or occupational therapy which can be offered or recommended to these patients, physical exercise can always be suggested, depending on the abilities of each person. We also recommend stretching certain muscle groups and trying to correct posture.
The Child Rehabilitation and Cerebral Palsy Unit is staffed by doctors specialising in caring for these patients, physiotherapists and occupational therapists.
We work with other specialist units, such as Neuropaediatrics, Paediatric Neurosurgery, Orthopaedic Surgery, and Paediatric Traumatology. We are in direct contact with all the paediatric services: Neonatology, Oncohaematology, Nutritional Support, etc.
There are two very different types of otitis, both of which children can suffer from: external otitis and middle ear infection.
External otitis affects the auditory canal and is above all related to exposure to swimming pool, bath and fresh water in general. It is most common in summer.
Middle ear infection is related to infections in the upper respiratory tracts, and can be self-limiting (it resolves itself in most cases) or purulent requiring antibiotic treatment It is most common in winter.
b) Middle ear infection: there is usually a history of catarrh in the respiratory tract, suddenly accompanied by pain (in small children this can manifest as intense crying), with or without fever. It does not hurt when the external ear is touched or moved. Sometimes the ear drum may be perforated due to inflammation and pressure, which may result in a purulent secretion, generally associated with the pain (and crying) disappearing.
In both cases, diagnosis is clinical: medical history, assessing symptomatology and exploration using an otoscope.
Otoscope exam. Occasionally, if there is suppuration, cultivation of the pus.
Kawasaki disease is a rare condition that causes blood vessel inflammation. It mainly affects breastfeeding babies and children under the age of five.
Diagnosis is based on clinical examination. Treatment consists of administering aspirin and immune globulin intravenous (IGIV).
To avoid possible heart sequelae, early diagnosis and correct treatment are essential.
Kawasaki disease is a form of systemic vasculitis that affects small and medium-sized blood vessels. The main complication of the condition is the formation of aneurysms in the coronary arteries. It is an acute and self-limiting inflammatory process.
1. Avoid using soap as this may cause the skin to dry further. Wear soft, flannel or cotton clothing.
2. Massage the skin with neutral hydrating cream.
3. Stop the child rubbing their eyes and protect them from light due to light sensitivity.
4. Ensure the child gets plenty of rest as it reduces irritability.
5. Apply passive exercises with soft toys and calm games.
Kawasaki disease is the main cause of acquired heart disease in children in developing countries. Greater incidence of the disease is observed in Asian countries, but distribution is currently universal and it is found in all races. It is more common in middle and upper socio-economic classes and in winter and spring.
Diagnosis of Kawasaki disease requires the presence of a fever for five days along with four criteria, or the presence of fever with three criteria if there is no other cause. The criteria are: bilateral conjunctival injection; alteration of labial mucosa and/or pharynx or “strawberry” tongue; alterations in hands and feet; skin rash; lymph nodes in the neck greater than 1.5 cm.
There is no specific laboratory test to diagnose this disorder.
Given that the symptoms of Kawasaki disease are non-specific and common to other conditions, a differential diagnosis must be conducted to correctly assess the treatment required.
The aim of treatment is to reduce inflammation in the myocardial coronary arteries, alleviate the symptoms and prevent clotting by inhibiting platelet aggregation. Immune globulin intravenous allows the disease to be cured in most cases and avoids heart sequelae. Treatment with acetylsalicylic acid (aspirin) is also used due to its anti-clotting properties.
Treatment with immune globulin is effective in reducing symptoms and avoiding coronary aneurysms. It is essential to start treatment between the fifth and tenth day of the disease.
Bronchiolitis is an infection that causes the small respiratory passages in the lungs (bronchioles) to become inflamed and mucus to build up in them. This blocks the flow of air, making it difficult to breathe.
It happens more often in babies because their airways are smaller and more easily blocked than in older children.
Bronchiolitis is not the same as bronchitis, which is an infection in the larger and more central airways that typically causes problems in adults.
Human respiratory syncytial virus (HRSV) is the most common cause of lower respiratory tract infection in babies and small children and it is one of the viruses that causes fever in children.
When it infects the lungs and airways, it is often responsible for bronchiolitis and lung disease or pneumonia in children less than one year old. In fact, the highest incidence of HRSV occurs in babies from two to eight months old.
It occurs more often between the months of October and March.
Human respiratory syncytial virus (HRSV) is also the most common cause of hospital admission in babies under one.
Bronchiolitis often begins with the same signs as catarrh. Infection can stay in the nose or extend to the ears and lower respiratory tracts.
Babies and small children affected by HRSV may show signs of:
Treatment for bronchiolitis due to HRSV basically consists of alleviating the symptoms. Antibiotics, which treat bacteria, are useless because, as we mentioned above, it is caused by a virus.
It is therefore advisable to:
Severe cases are treated in the hospital to give humidified oxygen and medication to help the child breathe more easily. In total, the condition usually lasts between one week and ten days, although a residual cough may persist for weeks. Bear in mind that the virus does not give the child immunity; they can become infected twice in the same season and reinfected in subsequent years.
Human respiratory syncytial virus (HRSV) is very contagious. It is spread if you come into direct contact with the nasal and throat secretions of someone who has the disease. This can happen when another child or adult coughs or sneezes nearby and the tiny droplets are inhaled by the baby. Also through hands or objects that have come into contact with infected people and then come into contact with the baby.
The virus can live for half an hour or more on your hands. It can also live for up to five hours on clothing, tissues, toys or furniture.
Infection can be prevented using several measures:
The prostate is a glandular organ present in men and is crossed by the urethra. It is involved in semen formation (80% of its content) and is therefore a sexual organ. When it grows, especially after the age of 50, it results in benign hyperplasia, but there are some symptoms, as the prostatic urethra consequently becomes narrower and thus obstructs the normal passage of urine.
The urethra is the urinary passage that goes from the bladder to the outside. In men, it has two branches; the prostatic urethra (passing through the prostate) and the spongy urethra, which crosses the entire penis to the outside.
When the prostate grows in size (benign prostatic hyperplasia or BPH), the diameter of the urethra decreases and symptoms occur. The obstruction of the urethra by the prostate is progressive and causes repercussions in the bladder, which requires more effort to drain the urine. It can also lead to urinary infections and the formation of lithiasis (stony concretions or calculi) from the salts contained in urine because it is not emptied easily and thus sedimentation of salts takes place.
If the obstruction is very large, the difficulty in removing the urine can cause the kidneys to be damaged because the bladder cannot be emptied properly.
More frequently urinating than normal, urinating at night, loss of force in urine stream, urinary urgency (the patient feels an intense urge to urinate) and also episodes in which urine escapes.
Men over the age of 50, with an increase in incidence as they get older.
Diagnosis is reached through clinical history, where the patient’s symptoms are ascertained, and a rectal touch, where the doctor accesses the prostate to assess the size and any abnormalities. An ultrasound will give information on the kidneys, the size of the prostate and the degree of drainage of the bladder.
A PSA test allows us to investigate suspected prostate cancer.
It is initially based on oral medications that relax the prostate muscles and facilitate the passage and normal evacuation of urine, or others that reduce its volume. In more advanced stages, drainage of the central part of the prostate should be done through a transurethral resection or laser enucleation.
Physical examination, ultrasound, PSA test. Urine flow test and assessment of post-void residual urine
Not applicable. Periodic checks for the onset of symptoms are the key to early diagnosis.
Chronic pelvic pain is defined as "chronic or persistent pain in the structures related to the pelvis in both men and women". It commonly impacts on cognitive, sexual and emotional behaviour. It often manifests as gynaecological, sexual, intestinal or pelvic floor dysfunction. A MULTIDISCIPLINARY approach must therefore be taken to treatment.
Chronic pelvic pain lasts for six months or more and affects the pelvic area, the abdominal wall of the bellybutton and below, the lumbosacral area of the back and/or buttocks and is of sufficient intensity to cause disability in the patient and/or require medical attention.
This has a clear effect on the quality of life of people suffering from the condition.
Its origin is unknown, but we do know that it is exploited by multiple biological/organic, psychological and environmental conditions, which interact in a non-linear way and predispose the patient to present with the condition. There is a clear trend for patients to attend multiple specialists, with requests for complementary testing, which can become iatrogenic, with the patient often feeling misunderstood and ill-treated by the healthcare system.
As it is more of a clinical condition rather than a diagnosis as such, the symptoms can vary a lot, but they always centre around persistent pain. It has a major impact on women of reproductive age and its impact on quality of life varies depending on the causes. It is worth remembering that it gravely impacts on patients’ sex lives and this can cause very significant psychological issues.
According to research, the prevalence of pelvic pain in epidemiology is vary variable. This almost certainly has to do with sociocultural aspects. According to the latest studies, it could be as much as 6.4-25.4% in women and lower in men, at around 2-17%. It is very likely that in the case of men there is an underestimation of this prevalence as there is less willingness to look at problems that also affect the sexual sphere.
Diagnosis is clinical. An appropriate clinical history needs to be conducted with the patient and/or relatives by a specialised healthcare professional. There are different scales to assess the severity of symptoms or associated comorbid disorders, and neuropsychological tests that evaluate cognitive difficulties in terms of attention and concentration. There are also some useful complementary tests to rule out organic causes and make a good diagnosis.
A multi-modal approach is required: psychoeducation, psychological treatment and pharmacological treatment. If the condition is also affecting the patient’s sexuality, we must consider tackling the issue with the patient’s partner as a priority. Several drugs have been shown to help control the symptoms. It very important for treatment to create a good doctor/patient relationship, avoiding unnecessary and iatrogenic complementary testing.
Clinical history. Psychological interview. Neuropsychological examination. Blood test, vital signs, weight and height. Neuroimaging. Scans.
Work with healthcare professionals from the different specialisms that treat chronic pelvic pain. Schedule regular appointments and manage requests for complementary tests and medical interventions to prevent iatrogenic illness. Do regular physical exercise, try to rest well at night, stay active and take part in employment and/or leisure activities, practise relaxation therapies such as mindfulness and avoid consuming toxic substances. Rehabilitation physiotherapy.
Psiquiatría: Dr. J A Navarro Sanchis
Cystic fibrosis is a genetic disorder that affects the lungs, the digestive system and other organs in the body.
Cystic fibrosis affects the cells that produce mucus, sweat and digestive enzymes. Bodily secretions that are usually fluid and not viscous become more viscous. Instead of acting as a lubricant, the viscous secretions form layers, especially in the lung and pancreas.
Patients with cystic fibrosis have a much higher level of salt in their sweat than normal.
The age at which symptoms appear varies, depending on the intensity of the disease in each person. Currently screening for cystic fibrosis is conducted in the first few days of a baby’s life, allowing a diagnosis to be made within a month of birth, much earlier than symptoms are likely to develop. Normally, symptoms appear within the first few months or years of life, although in some patients they may appear during adolescence or in adulthood. There has been an improvement in the quality of life of patients with cystic fibrosis compared to previous decades. Although cystic fibrosis requires daily treatment measures to control it, patients can still go to school and work.
The most common symptoms in small children are fatty deposits, delay in gaining weight, and repeated bronchitis and respiratory infections. Older children and adults may suffer from sinusitis, diabetes, pancreatitis or fertility problems.
It affects children and adults more or less severely depending on whether the illness has a mild or severe form of manifestation.
All new-borns are screened using a blood test to detect immunoreactive trypsinogen.
The sweat test (amount of salt in the sweat) is an important diagnostic test. It is done by stimulating the skin to increase sweat and measuring the amount of chloride secreted. In cystic fibrosis there is an increased amount of chloride and sodium.
Diagnosis is confirmed using genetic testing to look for mutations of the CFTR gene (Cystic Fibrosis Transmembrane conductance Regulator). This gene is involved in the passage of salt through the membranes of the body.
It is very important that patients be attended in a specialised multidisciplinary Unit.
There is currently no definitive cure, although there is a lot of research in this field and in the future it is probable that we will be able to change the natural course of this illness with new drugs that come onto the market.
Treatment is aimed at maintaining lung function, avoiding respiratory infections and improving the absorption of foods and nutrition. Breathing exercises are essential. These breathing exercises maintain adequate ventilation of the lungs and in some cases are accompanied by inhalation of a solution of sodium chloride, other fluidifying substances or antibiotics.
The relevant preventive vaccinations should be administered (flu, pneumococcal, etc.). The Cystic Fibrosis Unit designs a treatment plan for each patient, which varies over time and according to the evolution of the condition.
From a digestive point of view, pancreatic function can be helped by taking pancreatic enzymes orally and promoting the absorption of foods.
In some cases, if the disease is very advanced, a lung transplant may be needed. Treatments are improving all the time and need to be administered less and less frequently.
Screening for immunoreactive trypsinogen in the blood, the sweat test, genetic analysis.
Complementary tests that may be useful include blood tests to look at vitamin levels, among other things, chest x-ray, chest CAT scan, functional respiratory tests (spirometry) and stool analysis.
Early detection is currently a reality and allows early treatment as symptoms develop.
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