Overview
REN-related autosomal dominant tubulointerstitial kidney disease (ADTKD-REN), also known as familial juvenile hyperuricemic nephropathy type 2 or renin-related kidney disease, is a rare inherited kidney disorder caused by mutations in the REN gene, which encodes renin — a key enzyme in the renin-angiotensin-aldosterone system that regulates blood pressure and fluid balance. The disease primarily affects the kidneys, leading to progressive tubulointerstitial fibrosis and gradual decline in kidney function, typically culminating in end-stage kidney disease (ESKD) in adulthood. Clinical features often manifest in childhood and include mild hyperuricemia (elevated uric acid levels), gout, anemia during early childhood, mild low blood pressure, and hyperkalemia (elevated potassium). Some affected children may present with polyuria and polydipsia. The reduced production of functional renin leads to decreased aldosterone levels, contributing to the electrolyte abnormalities. Kidney function progressively deteriorates over decades, with ESKD commonly occurring between the third and sixth decades of life, though the rate of progression varies among affected individuals and families. There is currently no disease-specific therapy that halts or reverses the underlying kidney damage. Management is supportive and includes treatment of hyperuricemia with xanthine oxidase inhibitors (such as allopurinol), correction of anemia, management of electrolyte imbalances, blood pressure monitoring, and standard nephroprotective measures. Fludrocortisone may be used to address aldosterone deficiency. Renal replacement therapy, including dialysis or kidney transplantation, is required once ESKD develops. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern.
Also known as:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
10 eventsMassachusetts General Hospital — NA
Recep Tayyip Erdogan University Training and Research Hospital
Vifor Fresenius Medical Care Renal Pharma — PHASE2
Venus Remedies Limited — PHASE1
Transplant Genomics, Inc.
Ankara Etlik City Hospital
Guowei Tu
University of Alberta
Centre Hospitalier Universitaire de Nīmes — PHASE1, PHASE2
Qilu Pharmaceutical Co., Ltd. — PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableElitek
Initial management of plasma uric acid levels in pediatric patients with leukemia,lymphoma, and solid tumor malignancies who are receiving anti-cancer therapy expected to result in tumor lysis and sub…
Initial management of plasma uric acid levels in pediatric patients with leukemia,lymphoma, and solid tumor malignancies who are receiving anti-cancer therapy expected to result in tumor lysis and subsequent elevation of plasma uric acid.
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
2 resourcesEXTRANEAL
Baxter
End-Stage Kidney Disease
Travel Grants
No travel grants are currently matched to REN-related autosomal dominant tubulointerstitial kidney disease.
Community
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Start the conversation →Latest news about REN-related autosomal dominant tubulointerstitial kidney disease
Disease timeline:
New recruiting trial: Effect of Modifying Magnesium Concentration in Citrate-enriched Dialysate on Hemodialysis-associated Thromboinflammation
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Prognostic Value of Novel Biomarkers on Adverse Renal Outcomes in High-Risk Cardiac Surgery Patients
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Safety and Tolerability of Difelikefalin in Adolescents on Haemodialysis With Moderate-to-Severe Pruritus
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Precision Medicine in Cardiovascular Surgery Associated Acute Kidney Injury
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Efficacy and Safety of Nalfurafine Hydrochloride ODT for Moderate-to-Severe Pruritus in Patients on Peritoneal Dialysis
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Clinical, Morphometric and Biochemical Effects on Adiposopathy Associated With the Use of GLP-1RA in CKD
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Nephrological Outcome and Associated Congenital Anomalies in Pediatric Patients with Horseshoe Kidney
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Peritoneal Dialysis Registration System (PERSIST)
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Prevent Cardiac Surgery Associated AKI Trial
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
New recruiting trial: APOL1 Genetic Testing in African Americans
A new clinical trial is recruiting patients for REN-related autosomal dominant tubulointerstitial kidney disease
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about REN-related autosomal dominant tubulointerstitial kidney disease
What is REN-related autosomal dominant tubulointerstitial kidney disease?
REN-related autosomal dominant tubulointerstitial kidney disease (ADTKD-REN), also known as familial juvenile hyperuricemic nephropathy type 2 or renin-related kidney disease, is a rare inherited kidney disorder caused by mutations in the REN gene, which encodes renin — a key enzyme in the renin-angiotensin-aldosterone system that regulates blood pressure and fluid balance. The disease primarily affects the kidneys, leading to progressive tubulointerstitial fibrosis and gradual decline in kidney function, typically culminating in end-stage kidney disease (ESKD) in adulthood. Clinical features
How is REN-related autosomal dominant tubulointerstitial kidney disease inherited?
REN-related autosomal dominant tubulointerstitial kidney disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does REN-related autosomal dominant tubulointerstitial kidney disease typically begin?
Typical onset of REN-related autosomal dominant tubulointerstitial kidney disease is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for REN-related autosomal dominant tubulointerstitial kidney disease?
Yes — 1 recruiting clinical trial is currently listed for REN-related autosomal dominant tubulointerstitial kidney disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat REN-related autosomal dominant tubulointerstitial kidney disease?
11 specialists and care centers treating REN-related autosomal dominant tubulointerstitial kidney disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for REN-related autosomal dominant tubulointerstitial kidney disease?
1 patient support program are currently tracked on UniteRare for REN-related autosomal dominant tubulointerstitial kidney disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.