Chronic kidney disease (CKD) is a progressive deterioration of kidney function. In recent decades, this pathology has not ceased to grow and It is one of the top ten causes of death in Spain.And, as experts warn, in a few years this will become the second cause of death.
The most alarming thing about this disease is that it does not cause any discomfort. In fact, a person can lose up to 90% of kidney function before experiencing any discomfort or symptoms. However, it is clear what the causes of this pathology, which affects more than seven million Spaniards, are:
What was not known until now is that Causes of Idiopathic Chronic Kidney Disease or of unknown origin, which is becoming increasingly common. The GENSEN study, which has just been published in the prestigious American Journal of Kidney Diseases, identifies the main reason for improving the treatment and approach to this pathology.
A study conducted by the Spanish Society of Nephrology (SEN) in collaboration with 53 Spanish hospitals concluded that 28% of patients with CKD of unknown cause had hereditary factors. In addition, another 21% had potentially significant genetic data confirming hereditary factor as a sure cause of chronic kidney disease.
Currently, the cause of kidney disease is unknown in two out of every ten patients who start renal replacement therapy (RRT) in Spain, whether dialysis or transplant, to be able to continue living.
It is worrying that we do not know the cause of kidney disease in 18% of patients who start dialysis or transplant in Spain.
President of the Spanish Society of Nephrology
The study analyzed a large sample of 840 patients with advanced CKD (stage 5) and under 45 years of age in our country, of which 233 patients (28%) had an obvious genetic cause explaining the disease by pathogenic variants.
This discovery will benefit patients and their families through genetic counseling and more precise treatment of the disease, avoiding possible mistreatments and facilitating prognosis.
Dr. Sanchez notes that “this discovery becomes a before and after in Approach to CKD in Spain and the worldThis is a major milestone for nephrology, which will mean a change in clinical practice and diagnosis of the disease, so that genetics will become an effective tool in its approach and will facilitate interdisciplinary work between nephrologists and genetics.”
A simple test to detect deteriorating kidney function
Fortunately, experts have a very simple test that can measure a person’s kidney function. This test consists of a capillary blood test (a fingertip prick) that quantifies the creatinine level in the peripheral blood and estimates the glomerular filtration rate (GFR).
This test allows for an initial assessment of kidney function, which must then be confirmed by another series of tests.
The GENSEN project also hoped that 20% of cases of unknown origin would no longer be mysterious.
Chronic kidney disease is called a “silent epidemic” because its symptoms are poorly recognized in the early stages and the underdiagnosis rate is high, estimated at 40%. The GENSEN project also assumed that the 20% of cases of unknown origin would no longer be mysterious.
The incidence of this pathology has increased by 30% in recent years, as has its mortality: in 2022, 5,791 people will die on dialysis or with a transplant. Therefore, they say that in a few years it will overtake diseases such as cancer in terms of the number of deaths and is second only to others, such as Alzheimer’s.
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