Recent basic research published in the Journal of the American Society of Nephrology and presented at the Homer W. Smith Award address at the annual meeting of the American Society of Nephrology, shows that many pediatric kidney diseases are single-gene disorders.

Whole-exome sequencing identifies a genetic cause of chronic kidney disease in many patients and helps nephrologists better understand disease mechanisms and more easily categorize children for therapeutic trials.

What does this mean for your patients?

•  In some cases, knowing the cause of chronic kidney disease enables clinicians to identify the treatment. For example, children with nephrotic syndrome who have a specific rare gene mutation can be treated with coenzyme Q10.
•  Knowing the cause also relieves families from the stress and expense of pursuing a second or third medical opinion regarding their child’s condition.

Specialists in Boston Children’s Division of Nephrology can offer research-based diagnostics to patients with selected monogenic renal disorders. We offer (experimental) mutation analysis panels for children with proteinuria, renal cysts/echogenicity, renal stones/nephrocalcinosis, and congenital anomalies (CAKUT). Please contact Friedhelm Hildebrandt, MD to learn more about this service.

For a complimentary copy of the study, “A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome,” please complete this form.  

To discuss a patient's care with, or refer a patient to, a Boston Children's nephrologist, contact us at 617-355-6129.

We look forward to partnering with you to help you deliver superior care for your patients.

Inside the Division of Nephrology

Specialists in Boston Children's Hospital’s Division of Nephrology care for infants, children and adolescents with congenital and acquired kidney disease. U.S. News & World Report recently ranked Boston Children’s Nephrology Division #1 in the United States for the fifth consecutive year. We are also the largest pediatric nephrology service in the United States.

Our programs and services are:US News Best Children's Hospital Nephrology

•  end-stage renal disease
•  general renal
•  genetic kidney diseases
•  hypertension
•  kidney stone
•  kidney transplant

Learn more

Download a copy of the JASN study, “A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome."