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Paediatric Nephrology, Children's Hospital and Woman's Hospital
Paediatric age onset systemic autoimmune diseases are infrequent, complex entities that require a multi-disciplinary approach. The most frequent include juvenile onset systemic lupus erythematosus, mixed connective tissue disease, juvenile onset Sjögren’s syndrome, juvenile dermatomyositis, juvenile scleroderma, and paediatric age onset vasculitis, such as Kawasaki disease, IgA vasculitis (also known as Schönlein-Henoch purpura), polyarthritis nodosa and Takayasu disease.
The clinical manifestations of these diseases are highly varied. Juvenile systemic lupus erythematosus may affect several organs in the body, particularly the skin, joints, blood, kidneys and the central nervous system. In children, it is common for fever to appear without an infectious cause or an increase in the size of the lymph nodes.
Juvenile dermatitis is characterised by the presence of fatigue, muscle pain, weakness and the appearance of rashes that may affect the face, with inflammation around the eyes (periorbital oedema) There may also be reddening of the cheeks (malar rash) and other parts of the body (top part of the knuckles, knees and elbows), where the skin may become thicker (Gottron’s papules). Juvenile scleroderma, whose name comes from the Greek and means “hard skin”, is characterised by the presence of lesions on the skin and affects various organs. Two types can mainly be identified: localised scleroderma and systemic scleroderma.
Kawasaki disease is characterised by the presence of a high fever of unknown origin, irritability, reddening of the eyes and various skin lesions, such as a rash on the torso, flaking fingers and reddening of the tongue (normally called “strawberry tongue”). The involvement of the heart is the most serious manifestation of Kawasaki disease, due to the possibility of long-term complications.
Schönlein-Henoch purpura is characterised by a rash on the legs called “palpable purple” because the skin lesions can be touched, and painful and swollen joints, abdominal pain and kidney problems may appear.
All the conditions within the group are infrequent and have an incidence of less than 5 cases per 10,000 inhabitants, for which reason they are considered to be rare conditions. The spread is different depending on the disease. For example juvenile systemic lupus erythematosus, along with juvenile dermatomyositis and scleroderma, are more common in girls, while Schönlein-Henoch purpura is more common in boys.
Diagnosis of paediatric systemic autoimmune diseases is eminently clinical and we are guided by classification and diagnostics criteria in many of them. Blood tests are important for diagnosing the different systemic autoimmune diseases, as various autoantibodies can be identified that can help with the diagnosis and monitoring of these diseases. Supplementary tests, such as a capillaroscopy, chest X-ray, respiratory function tests, nuclear magnetic resonance and echocardiogram, amongst others, can be helpful when we come to approaching a paediatric patient with a suspected systemic disease.
Treatment fundamentally depends on the type of condition and the response to the therapy chosen. There is not currently any specific curative treatment for each one of the diseases, but the treatments available will help to control the signs and symptoms of the disease and prevent complications, including permanent damage to organs and tissue.
Autism spectrum disorder is a neurodevelopmental condition with an estimated lifetime prevalence of 1%. Basic symptoms include a lack of social communication, restricted or repetitive interests and activities, and sensorial anomalies starting during early childhood.
Autism was described for the first time in 1943 by the child psychiatrist Leo Kanner. Currently, according to the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V), the term Autism Spectrum Disorders refers to all those conditions that involve a lack of social communication, restricted or repetitive interests and activities, and sensorial anomalies starting during early childhood. All these conditions start to appear in early childhood even if they do not fully manifest until the person’s limited capacities stop them from responding to social needs.
Depending on the severity of the symptoms and the level of assistance required by the person, three different levels of intensity have been described (Level 1: requires help, Level 2: requires significant help, Level 3: requires large amount of help). It is important to determine whether the person also has an intellectual disability or language difficulties, if they are linked to a known medical or genetic pathology or environmental factor, if they are associated with another mental or behavioural neurological development condition, and if they are associated with autistic catatonia.
Genetics plays a fundamental role in the aetiology of autism spectrum disorders, together with pre-labour and neo-natal risk factors.
The common symptoms of all autistic spectrum disorders are:
Issues with socio-emotional reciprocity, non-verbal communication, and the development, maintenance and understanding of social relationships. And then, at least two of the following:
a) stereotyped or repetitive movements, use of objects, or speech.
b) cognitive rigidity
c) restricted interests and
d) hyper- or hypo-reactivity to sensorial stimulus or an unusual interest in the sensorial aspects of their surroundings
Autism spectrum disorders can be observed in people from around the world from all types of racial, ethnic and socio-economic groups. This disorder occurs 4 times more frequently in boys than in girls.
Diagnosis is based on observation by a child psychiatrist and paediatric neurologist.
An evaluation by a multidisciplinary team is also recommended. It is necessary to include an evaluation of the individual, an interview with his or her carers or other informants, information from the school or workplace, and to perform a cognitive and linguistic evaluation. Furthermore, a medical examination (blood and genetic tests and CAT scan) should be carried out in cases where a specific aetiology is suspected. Genetic tests can detect an aetiological cause in up to approximately 10% of cases.
At this stage, there is not enough scientific evidence to routinely recommend a specific pharmaceutical drug to address the symptoms of ASD. However, there are effective pharmaceutical drugs to treat the medical or psychiatric comorbidities that commonly occur with these disorders.
It is important to begin psychotherapeutic treatment as soon as possible, as well as to adopt educational strategies in the classroom in line with the seriousness of the psychiatric disorder.
Early detection, psychotherapeutic treatment and various educational approaches substantially improve the learning and social behaviour of the person affected, helping them to have an everyday quality of life with a certain degree of autonomy and independence.
Research into the brain’s structure and connectivity in parallel with genetic studies is paving the way towards being about to think more about effective treatments for this disorder. In fact, there are currently various clinical trials under way whose therapeutic target is the basic symptoms of ASD.
There is a series of clinical trials that can help rule out other associated presentations or a specific aetiology such as electroencephalography and CAT scans, as well as analytic tests to rule out metabolic illnesses. A genetic test is required if there are suspicions of a specific genetic alteration.
Visits to the paediatrician to monitor the evolution of a healthy child are fundamental for early detection.
Les persones amb insuficiència renal que entren en programa d'hemodiàlisi tenen una funció inferior al 10% de la funció normal. Amb xifres superiors de funció, generalment no és necessària l'hemodiàlisi.Cal practicar l'hemodiàlisi de forma periòdica, en sessions d'unes quatre hores i generalment tres cops per setmana, tot i que la durada i la freqüència depenen de cada pacient i de cada circumstància.El fonament de l'hemodiàlisi és biofísic, en el sentit que la sang quan passa per un filtre, intercanvia substàncies amb el líquid que hi ha present a l'altra banda del filtre i que és mogut en circulació per una màquina. Per a l'intercanvi, la sang s'allibera de la urea, del potassi, del fòsfor, i de diferents substàncies que s'acumulen pel dèficit del funcionament renal. El pas de les substàncies a través de la membrana es fa en part espontàniament, per què hi ha diferents concentracions de les diferents substàncies i la tendència és a igualar-se, i també per mitjà de canvis en la pressió que exerceix la màquina d'hemodiàlisi.Possibles complicacions de l'hemodiàlisi, són la infecció del catèter o l'esgotament dels accessos vasculars en pacients que estan durant anys amb hemodiàlisi.Tot que l'hemodiàlisi pot durar anys, generalment és un pas intermedi entre la insuficiència renal i el trasplantament.
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.
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