This page is dedicated to the Urinary Tract Stone Disease research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Urinary Tract Stone Disease research study, established at Boston Children’s in 2021 and led by Dr. Amar Majmundar, has enrolled 19 patients and their families.
Disease Information
Urinary tract stones (kidney stones or nephrolithiasis) are small, hard deposits of mineral and acid salts formed within the urinary tract that can obstruct the drainage of urine and may cause intense pain.
It is estimated that about 50% of the risk for developing urinary tract stone disease comes from genetics. Learn more about urinary tract stone disease at Boston Children’s.
Key Outcomes
To date, 17% of patients have diagnostic results leading to change in treatment plans and an additional 33% have candidate findings that are being further researched. Two candidate genes have been identified and an international collaboration was established to study additional families.
Genes of Interest
There are at least 46 genes associated with urinary tract stone disease. These include:
AGXT ALPL CASR CLDN14 CLCN5 CYP24A1 GRHPR HOGA1 SLC26A1 SLC26A6 SLC34A1 SLC34A3 SLC7A9 TRPV5 TRPV6 UMOD VDR
Participate in Research
Physicians may refer their patients with urinary tract stone disease to Dr. Majmundar. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Majmundar’s research on the Majmundar lab website.
Patient Care
Patients and their families with urinary tract stone disease can be seen by an expert multidisciplinary team in the Kidney Genetics Clinic and Kidney Stone Program at Boston Children’s.
Investigator
Divisions
Notable Publications by Investigators
- Mechanisms of podocyte injury in genetic kidney disease.
- Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
- Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.
- Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
- Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
- OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
- Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Disease Support Organizations
American Kidney Fund
The American Kidney Fund (AKF) fights kidney disease on all fronts as the nation's leading kidney nonprofit. AKF works on behalf of the 37 million Americans living with kidney disease, and the millions more at risk, with an unmatched scope of programs that support people wherever they are in their fight against kidney disease — from prevention through post-transplant living.
National Kidney Foundation
The National Kidney Foundation (NKF) is revolutionizing the fight to save lives by eliminating preventable kidney disease, accelerating innovation for the dignity of the patient experience, and dismantling structural inequities in kidney care, dialysis, and transplantation.