Hereditary Kidney Diseases Specialty Clinic

Hereditary kidney diseases are a group of disorders that affect the structure and function of the kidneys, caused by changes in genes (mutations), many of which can be inherited. These include autosomal dominant polycystic kidney disease (the most common hereditary kidney disease), as well as other conditions such as type IV collagen disorders (Alport syndrome), CAKUT (congenital anomalies of the kidney, urinary tract, and bladder), nephronophthisis, and familial hypomagnesemia, among others. Today, more than 500 genes are known to cause kidney diseases, making a precise diagnosis increasingly feasible.

In this clinic, we offer a comprehensive evaluation that begins—just as in any nephrology workup—by analyzing how the kidneys function and how they look, using blood tests, urine tests, and imaging. We devote special time to reconstructing the family history and the patient’s development, because that information guides a truly targeted and useful genetic study.

Genetic counseling is the cornerstone of our approach. It is not only about selecting which genes to analyze, but also about clearly explaining the pattern of inheritance, possibilities for early detection in relatives, and the short- and long-term health implications. We answer questions, provide support, and design a personalized follow-up and treatment plan.

We work in close coordination with the Genomic Medicine Unit, since some of these diseases can also affect other organs, such as hearing, vision, or the endocrine and reproductive systems. From Nephrology, we address associated complications—such as high blood pressure, pain, or progressive loss of kidney function—with the goal of improving quality of life, slowing disease progression, and providing truly comprehensive care for patients and their families.

The physicians responsible for this clinic are members of the Spanish Group for Hereditary Kidney Diseases of the Spanish Society of Nephrology, ensuring continuous updating and the application of best evidence-based practices.

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