Kidney diseases cause disorders with highly variable clinical implications. These usually occur spontaneously, but sometimes there is a family history or medical problems such as back or groin pain, hypertension, lack of appetite or presence of blood in urine, which can mean the presence of a genetic alteration affecting the kidney.

Genetic tests help detect these disorders on time and prevent kidney failure that ultimately occurs in these disorders, and the consequent kidney transplantation. Differential diagnosis of the pathology will allow optimizing the treatment and identifying other family members who may be affected.

Polycystic Kidney Disease (PKD) is one of the most common kidney disorders and more serious. It is characterized by enlarged kidneys due to the presence of multiple fluid-filled cysts, which in more than 50% of cases lead to kidney failure. The most frequent form is autosomal dominant polycystic kidney disease (ADPKD), usually diagnosed in adulthood. The genetic study can help to detect this genetic defect and to establish family planning measures that prevent the transmission of the disease to the offspring.

Types of genetic tests in nephrology


Genetic studies that analyze presence of mutations in specific genes that have been involved in the development of a kidney disease such as the study of PKD1 and PKD2 genes, involved in ADPKD.



Simultaneous study of several genes involved in kidney diseases helps to diagnose serious pathologies such as hemolytic-uremic syndrome, or difficult to treat such as Alport syndrome or steroid-resistant nephrotic syndrome.


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