Aurora magazine

Gaucher's disease is a lysosomal genetic disease. The cause lies in the deficiency or complete absence of an enzyme, glucocerebrosidase, usually present in lysosomes of macrophages. The enzyme's task is to transform waste fats into reusable sugars. Its deficiency causes the accumulation of lipids in the lysosomes of macrophages, which then become larger. This causes a gradual deterioration of the organs involved.

There are three types of Gaucher disease:

Gaucher Type I: affects adults and has no neurological involvement. It is the most widespread and less severe form.
Gaucher Type II: neuropathic form, affects children and infants. The prenatal form is always lethal.
Gaucher Type III: neuropathic, juvenile form.

Transmission of the disease occurs if both parents are healthy carriers. For this reason, doctors recommend genetic counseling to those who have already had cases in the family. Genetic tests could also be helpful for diagnosis, often difficult.

Type 1 has variable symptoms, even in the presence of the same genetic mutation. It usually manifests with anemia, thrombocytopenia, bone disease. These are the most worrying manifestations, because the abnormal cells infiltrate the bones until they reach the marrow. This causes the lack of platelets, which in turn causes bleeding and anemia. Spontaneous fractures are also frequent.

Type 2 and Type 3 of Gaucher's disease also have neurological consequences. Lipids also accumulate inside the central nervous system. This causes irreversible damage and makes it much more difficult to develop an effective treatment against the disease. In fact, the oral administration of the missing enzymes is only partially effective.

Source: osservatoriomalattierare.it

Hypokalemic periodic paralysis is an inherited genetic disease that causes episodes of muscle weakness. Those suffering from it are affected by temporary episodes of paralysis starting from adolescence. In some cases the attacks occur every day, in others once a year. They usually last a few hours and manifest from adolescence.

Most of the attacks of temporary paralysis hit the shoulders and hips. However, it also affects the arms and legs, the muscles of the eyes and those related to breathing. Attacks sculpt mainly upon awakening and are rare during exercise. Consumption of alcohol and carbohydrate foods seems to be a triggering factor.

Subjects suffering from periodic hypokalaemic paralysis do not show any symptoms between attacks. Some of them complain of stiff legs just before paralysis, but there are no other signs. During the attack, however, potassium levels collapse, muscle reflexes diminish or disappear. Electrocardiogram and electromyogram abnormalities are also visible. In some cases, the anomalies result in cardiac arrhythmias.

For the moment there is no effective treatment in 100% of cases. Taking potassium does not prevent episodes of paralysis, although administering it during the course can block an attack. Doctors recommend avoiding alcohol and cutting carbohydrate consumption, thus reducing triggering factors. Acetazolamide has proven effective in prevention, although it does not always work and reduces potassium levels. Alternatively, triamterene or spironolactone can be taken.

Source: medicinalive.com

Nephrotic syndrome is a disease that affects about 1 to 7 people per 100,000 each year. In those who suffer from it, the filtering units of the kidneys are damaged. This causes an escape of the proteins in the urine, with consequent deficit for the organism. The lack of proteins in the body also causes retention of salts and liquids, and therefore swelling. In addition, protein deficiency is linked to an increase in fat production by the liver.

Those suffering from nephrotic syndrome tend to have a swelling on the whole body, especially legs and stomach. Sick subjects urinate little and increase in weight apparently without reason. However, the manifestations can change based on whether you are dealing with primary or secondary nephrotic syndrome. The secondary is the result of other diseases, such as cancer or HIV. The most common types of the primary, however, are "glomerulonephritis with minimal lesions" and "segmental focal glomerulosclerosis".

Glomerulonephritis with minimal lesions is the most common type among children. 75% of those suffering from the disease suffer from it, compared to 20% of adults. This type is treatable with corticosteroid drugs, but rarely the effects are permanent. 60% of patients suffer from one or more recurrences of the disease. On the other hand, segmental focal glomerulosclerosis is difficult to treat and often leads to kidney loss.

The diagnosis of nephrotic syndrome occurs through:

• Urine analysis. A too high level of protein in the urine is one of the most important symptoms. The analyzes are done on the urine collected over 24 hours.
• Blood analysis. The levels of hypo-albuminemia and hyperlipidemia are measured.
• Renal biopsy. Doctors take a fragment of kidney and examine the filter units to see if they are damaged.

Source: nephceurope.eu/nc/it/

Severe combined immunodeficiency is a rare congenital disorder characterized by impaired immune responses. The disease is inherited mainly from the mother. The children who suffer from it are almost free of T and B lymphocytes, as well as other defense mechanisms of the organism.

Children who suffer from severe combined immunodeficiency are also called "bubble children". The name derives from the need to keep those who suffer in a bubble, almost literally. An emblematic case was that of David Vetter, who lived for 13 years in an isolated and germ-free room. Any contact with the outside would have killed him, David being completely devoid of natural defenses.

In this form of immunodeficiency, the body becomes ultra-sensitive to infections. Even the most trivial disorder can be lethal for those suffering from this disease. On the other hand, an early diagnosis followed by ad hoc treatment can save the lives of many children.

Although severe combined immunodeficiency is caused by various genetic abnormalities, the symptoms are always the same. The typical sign of the disease is an increase in vulnerability to serious infections, such as pneumonia, meningitis and sinusitis. Sick children also suffer from a chronic form of diarrhea and are less receptive to traditional treatments. In the presence of all these symptoms, diagnostic tests should be performed as soon as possible.

Diagnosis usually occurs through a blood test. Doctors verify the presence - or rather, the absence - of B and T lymphocytes and antibodies. Unfortunately, the early diagnosis of the disease is infrequent: the first clinical manifestations appear weeks after delivery. During this time, the baby has come in contact with numerous germs that may have compromised his organism.

In the event that parents know they are healthy carriers, it is possible to perform a fetal DNA test. This allows immediate intervention and guarantees a better future for the child.

Source: news-medical.net