Aurora magazine

Amyloidosis is a group of diseases characterized by protein alterations. This brings the proteins in question to aggregate and form deposits, which affect the functions of the organs. There are also genetic and hereditary forms, with different clinical pictures depending on the gene involved.

The most common inherited form is transthyretin accumulation amyloidosis. Among the first symptoms is carpal tunnel syndrome, which is followed by an alteration in the sensitivity of the lower limbs. This causes difficulty in performing movements with hands and moving. In some cases, the disease also manifests itself with intestinal problems, deficit of strength, pains in the extremities.

Amyloidosis from gelsolin has two forms:

• Systemic. Protein deposits affect different organs and tissues, leading to corneal dystrophy and dysfunction of the nervous system.
• Not systemic. It is a form that is still poorly characterized, which only causes renal dysfunction.

Those described above are just the most common forms of amyloidosis. There are many other forms of familial and some sporadic amyloidosis. The former are caused by mutations in the genes that code for plasma proteins. In order for them to occur, it is enough to inherit only one mutated copy of the gene.

Diagnosis of various forms of amyloidosis usually starts with clinical observation. Specific genetic tests follow, so as to identify the mutated gene. Unfortunately, there are no definitive therapies at the moment. One can only act on symptoms in an attempt to improve the quality of life of patients. In some cases, liver transplantation blocks the synthesis of the amyloidogenic precursor.

Source: telethon.it

The primary hyperoxaluria of type 1 is a genetic disease that affects the functions of metabolism. It causes the accumulation of calcium oxalate in the tissues, causing dysfunctions in different organs. Among the possible consequences there are optic atrophy, arrhythmias, neuropathy, fractures. Diagnosis usually occurs by means of urinalysis, which show high levels of calcium oxalate.

The oxalate deposition in the kidneys causes the formation of very painful kidney stones. The calculations are recurrent and cause urinary tract infections, as well as permanent damage. They are one of the first symptoms that manifests itself, usually before age 5. If not taken in time, it can lead to renal failure and affect the functionality of the kidneys in a definitive way. The most severe forms of hyperoxaluria affect not only the kidneys, but also the bones and the retina.

The risks for renal function make primary hyperoxaluria a disease with a high mortality rate. 50% of patients are likely to have a renal failure before age 15, 80% before 30. In addition, those who suffer often manifest crystallization in the bones, eyes and heart. This is why heart disease and related deaths are common.
The diagnosis of primary hyperoxaluria occurs by measuring calcium oxalate levels in the urine and blood. Genetic tests are also performed and, in the case of healthy carriers, prenatal diagnosis.

The only therapies available today include the administration of calcium salts and constant hydration. In this way the accumulation of oxalate in the tissues is reduced. In some cases, there is a combination of liver and kidney transplantation, especially in children. Unfortunately, only kidney transplantation is not able to correct the disease, which then reoccurs.

Source: corriere.it

Myelodysplastic syndromes are genetic diseases that affect the bone marrow. Those suffering from these diseases have dysfunctional stem cells, unable to produce the right number of blood cells. This causes deficiency of red blood cells, white cells and platelets. In some cases it even leads to the development of acute myeloid leukemia.

Myelodysplastic syndromes affect about 1 person every 12,500 in Europe. The most affected are the elderly over 70 years, among which the rate rises to 1 person every 3,000. They are therefore caused by anomalies present in the DNA, which trigger the mutations within the stem cells. However, the precise mechanism is still unclear and largely unknown. It is thought that mutations may be related both to exposure to toxic substances and to congenital factors.

Diseases usually start from a few damaged haematopoietic stem cells. These multiply and produce new abnormal cells. Sick cells can not produce specialized mature cells. This leads to a progressive decrease of the blood cells and an impoverishment of the organism.

It happens that the diagnosis takes place before the onset of symptoms, thanks to random blood tests. However, most patients perform analyzes when they start to feel that something is wrong. Symptoms are usually linked to the lack of a particular group of cells.

Many patients complain of weakness and difficulty breathing, related to the low number of red blood cells. Others are affected by recurrent bacterial infections caused by white blood cell deficiency. Lack of platelets, on the other hand, causes bruises, blood loss and bleeding gums. In about 15% of cases there is also an enlarged liver, spleen and lymph nodes.

Source: hematology-pavia.it

The US Food and Drug Administration (FDA) has approved the sale of the Galafold drug. It is the first drug taken orally against Fabry disease. Galafold is specifically indicated for adults with a specific genetic abnormality. The drug replaces the missing enzyme, but acts differently from normal replacement therapies.

Until now, treatments for Fabry's Disease included the replacement of the enzyme alpha-galactosidase A. The new drug, on the other hand, binds to the unstable forms of the enzyme and stabilizes them. The process ensures that the recovered enzyme can be transported where it is needed. The tests confirmed the effectiveness of this approach.

The researchers performed a total of 4 clinical trials, analyzing the responses to Galafold of 139 patients. The last clinical trial was used to test the efficacy of the drug and involved 45 adults with Fabry disease. Half of the patients received the drug for 6 months, the others received a placebo.

The first group showed a clear reduction of globotriaosylceramide in the blood vessels of the kidneys. The most significant side effects were headache, nausea, urinary tract infections and above-average body temperature. However, being much less incisive than the benefits, the drug has been approved for human use.
For Galafold, the rapid approval procedure was used, which was used for the most serious diseases. Nevertheless, further studies will be needed to identify any long-term side effects.

Source: raredr.com