Aurora magazine

The surfactant protein deficiency is a group of rare genetic diseases, affecting the genes that code for vitamins C, B and ABCA 3. When one of these three surfactant proteins is missing, breathing problems occur that can lead to death. In some cases, the child who suffers from the deficit does not even survive childbirth. Unfortunately, to date there are no conclusive therapies for any of the three forms.

The surfactant protein C deficiency is transmitted in an autosomal dominant manner, so only one mutated allele is sufficient. Among the three forms it is the least predictable: it occurs also in old age, with very different clinical pictures. In some patients it leads to death, in others it causes barely perceptible disorders that do not hinder everyday life. B deficiency is the rarest form and generally affects newborns. It manifests itself almost immediately and leads to increasing breathing difficulties. Children usually die in the first months of life, without doctors being able to do anything.

Finally, there is the deficiency of the ABCA3 surfactant protein, the relatively more frequent one. There are more than 100 mutations linked to the gene that codes for the protein. Transmission is autosomal recessive and occurs in both prenatal and later life. Usually the neonatal picture is more severe than the pediatric one, which tends to have a chronic course. For the time being, prenatal diagnosis is available only in well-defined cases. If there have been cases of these diseases in the family, then it is possible to detect any signs of the deficit. Otherwise, the picture tends to be too confusing to give reliable results, at least for the moment.

Source: osservatoriomalattierare.it

The adult polycystic kidney (ADPKD) is a genetic disease with an incidence of 1 in 1000 people. As per name, it causes the formation of cysts on both kidneys, compromising organ function. This makes it the leading genetic cause of kidney failure in adult individuals.

The disease is known above all for its devastating effects on the kidneys, which force many patients to have dialysis. Nevertheless, it is actually a systemic disease that also affects other organs. Cysts can affect the liver and pancreas, while the effects can be pushed up to the onset of hypertension and aneurysms.

The adult polycystic kidney usually occurs between 40 and 50 years of age, so it is a late-onset disease. However, the age of onset can be very variable. The first obvious symptoms include lower back pain, blood in the urine, hypertension. Their severity varies from individual to individual, based on genetic and environmental factors. The degeneration of the kidneys may be more or less rapid, but remains inevitable.

The researchers think that there are two possible genetic causes for the polycystic kidney of the adult: mutations in PKD1 and in PKD2. Mutations cause different forms of the disease, which cannot be distinguished on an exclusively clinical level.

Some hypothesize that the anomalies in the first gene are linked to more aggressive forms of the pathology. For the moment, the available therapies are few. Drugs are used to treat chronic pain and hypertension. In severe cases, the kidneys stop working completely and dialysis is needed.

Source: renepolicistico.it

Von Willebrand's disease is an inherited genetic disorder that causes problems related to blood clotting. In many ways it is similar to haemophilia: patients may experience post-operative bleeding and bleeding. The severity varies from case to case, based on the lack of the Willebrand factor, which is necessary for coagulation.

Depending on the factor level, you have the following types:

• type 1, partial;
• type 2 variants, with defects of different types in the factor;
• type 3, total absence of the factor.

The cause is a mutation of the VWF gene, on chromosome 12, which codes for the factor. However, according to the scientists, other genes not yet identified could also be involved. In type 1 and type 2 disease, transmission is autosomal dominant: an altered copy is sufficient for the disease to manifest. In type 3 and in some type 2, the mode is autosomal recessive. Diagnosis is made by analyzing the patient's clinical and family history.

Subsequently, the dosage of Willebrand factor and others involved in coagulation is passed. In many cases it remains rather difficult to pose. Unfortunately, to date there are no solution therapies. Replacement Willebrand factor can help in severe cases, at least to stop bleeding. In milder cases, on the other hand, just dab the bleeding and apply pressure. Furthermore, those suffering from the disease should avoid the use of anti-aggregating and anticoagulant drugs such as aspirin.

Source: telethon.it

Motor neuron disease is actually a set of pathologies that affects motion neurons. All these diseases are characterized by damage to the motor neurons, which determine the communication between brain and muscles. Information no longer passes and muscle mass is reduced, making movements impossible.

The most famous motor neuron disease is Amyotrophic Lateral Sclerosis (ALS), but the group is heterogeneous. Almost all diseases have a lack of strength in one hand or leg as their first symptom. In some cases, the subject struggles to speak and swallow, as well as to move. Muscle cramps begin to appear, especially at night, and fasciculations. Almost none of the motor neuron diseases cause decay of intellectual functions. Sensitivity also remains intact, as well as urinary functions. However, the evolution of the disease largely depends on the individual patient and the type of pathology.

To date it is impossible to understand in advance how the disease will evolve and what the future degree of motor autonomy will be. The diagnosis of a motor neuron disease involves a neurological examination and instrumental tests. These include a nuclear magnetic resonance, which serves to carry out a neuroradiological study of the brain and spinal cord.

This way it is possible to determine if it is ALS or another disease. For the moment there are no resolutive therapies for this type of disease. Current treatments are mainly used to slow down the evolution of the disease.

Source: hsr.it