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Many kidney diseases have an underlying genetic cause. The Kidney Genetics Clinic, part of Boston Children’s Division of Nephrology, guides families and clinicians who are interested in seeking a genetic explanation for kidney disorders in infants, children, or young adults. In many cases, the identification of a genetic cause for a child’s kidney disease can lead to changes in treatment strategies, or could end a lengthy diagnostic journey.

Our team works closely with families to provide genetic testing, interpret results, and develop comprehensive care plans for every child. Our physicians and certified genetic counselors all have expertise in kidney disease and can bring in other specialists as needed to provide long-term care, or partner with your child’s existing care team.

We treat children and young adults with any form of suspected hereditary kidney disease, including, but not limited to:

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Two rising stars in kidney genetics

Nina Mann, MD, and Amar Majmundar, MD, PhD, co-direct Boston Children's Hospital's new Kidney Genetics Clinic.

Services offered in the Kidney Genetics Clinic

The Kidney Genetics clinic provides comprehensive, one-stop services for children and young adults with kidney disease.

Consultations and kidney genetic counseling

Your family will be seen by an expert in kidney genetics who is familiar with your child’s form of kidney disease, as well as a licensed genetic counselor. We will perform a comprehensive evaluation, including a detailed family and medical history, review of available test results, and physical examination. Based on this evaluation, we will determine whether or not genetic testing is needed.

If genetic testing is recommended, our genetic counselor will explain the available testing options, discuss implications for insurance coverage, and offer guidance around the testing process. The counselor may also suggest testing for parents and other family members, based on your child’s results.

Full-service kidney genetic testing

We select the most appropriate tests based on the child's medical history. These range from single-gene testing to broader gene panels or examination for copy number variants and structural rearrangements.

Once genetic test results are in, the physician and genetic counselor will meet again with your family to review the findings and what they mean. We work closely with your child’s primary nephrology team to determine the next steps in their care. This includes implications for your child’s prognosis or treatment, as well as the availability of diagnosis-specific clinical trials.

The genetic counselor can also discuss the implications of the test results for the rest of your family. Families often use these results in planning future pregnancies. Sometimes, there are implications for family members’ own care if they are discovered to have the same genetic mutation. Our team is available to work with all family members as needed.

Coordinated care for complex kidney disorders

Some genetic disorders not only involve the kidneys, but can affect other organs. Depending on the genetic diagnosis, we can arrange for your child to be seen by specialists in other fields to address the different aspects of their condition.

Family support

Because we see so many children and young adults with genetic forms of kidney disease, we can often help families with rare conditions connect with one another and can help form support groups. We also connect families with existing foundations for genetic kidney disorders.

Our Kidney Genetics expertise

Our clinic involves pediatric nephrologists who specialize in the evaluation, diagnosis, and treatment of genetic kidney diseases. Furthermore, our providers conduct NIH-funded research aimed at gaining a better understanding of the genetic determinants of kidney dysfunction. When existing genetic tests come back negative or inconclusive, they conduct a deeper investigation through their own research or collaborations with research partners both locally and around the world.