What Is Genetic Kidney Disease?

 

Our kidneys are complex organs that filter blood and keep our body’s balance of salts and fluids.

In many people, kidney disease develops because of conditions like diabetes or high blood pressure.

However, research has shown that in many children and some adults, kidney problems can also be caused by changes (variants) in our genes—the body’s biological “instruction manual.”

 

Genetic kidney diseases are not rare. They are estimated to explain:

 

• 30–50% of chronic kidney disease (CKD) in children

• 10–20% of CKD in adults

 

These conditions may appear in a single person, run in families, or sometimes arise even when no one else in the family is affected.



 

Why Is Genetic Testing Important?

 

Traditional tests—such as blood, urine, ultrasound, or even kidney biopsy—cannot always reveal the exact cause of kidney disease.

Genetic testing can identify the precise reason by analyzing DNA from a blood or saliva sample.

 

Knowing the genetic cause can:

 

• Provide a clear diagnosis after years of uncertainty

• Guide treatment and follow-up, sometimes allowing therapies tailored to the specific gene involved

• Avoid unnecessary procedures, such as repeated biopsies or medications unlikely to help

• Help with family planning and detect early signs in relatives who might benefit from monitoring or prevention

• Identify eligibility for new treatments or clinical trials focused on gene-specific kidney disorders

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Who Might Benefit from Genetic Testing?

 

Genetic consultation is especially recommended when one or more of the following apply:

 

• Kidney disease in multiple family members

• Kidney failure at a young age (before 50)

• Cysts, stones, or protein in the urine without a clear cause

• Syndromic findings, such as hearing loss, eye problems, or developmental changes

• Unexplained kidney disease after standard evaluation

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How Testing Helps Future Care

 

A genetic diagnosis can:

 

• Enable personalized monitoring (for example, screening for aneurysms in polcystic kidney disease or uric-acid levels in autosomal dominant tubulointerstitial kidney disease)

• Allow participation in emerging gene-targeted therapies, such as RNA-based or small-molecule drugs

• Clarify kidney-donor safety in families

• Improve understanding of why kidney disease develops and how to slow its progression

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Looking Ahead

 

Genetic discoveries are transforming nephrology.

New treatments that target the root molecular cause—rather than only the symptoms—are becoming a reality.

Even if no variant is found today, re-analysis in the future may uncover answers as knowledge grows and tests improve.

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💡 For Patients and Families

 

• Ask your nephrologist or genetic counselor whether a genetic test may be appropriate for you or your child.

• Bring any family medical history or previous test results to your appointment.

• Remember: discovering a genetic cause is not about blame—it’s about understanding, prevention, and empowerment.

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📍 Contact the Nephro-Genetics Clinic, Sheba Medical Center

 

Email: Nephron.gene@sheba.health.gov.il

Clinic Hours: Wednesdays, twice a month, 09:00–12:00

Location: Safra Children’s Hospital, 9th floor, Pediatric Department B

Phone: 03-530-4430