Abstract: FR-PO0146
Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Variant Presenting as Familial CKD Initially Suspected to Represent ADPKD
Session Information
- Hereditary Glomerular and Tubulointerstitial Kidney Diseases
October 23, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic (Complex and Non-Cystic Monogenic)
Authors
- Oh, Jaha, Weill Cornell Medicine, New York, New York, United States
- Chevalier, James, Rogosin Institute, New York, New York, United States
- Salvatore, Steven, Weill Cornell Medicine, New York, New York, United States
Introduction
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation (ADTKD-UMOD) is an inherited tubulointerstitial nephropathy characterized by autosomal dominant CKD progression, bland urinary findings, and progressive tubulointerstitial fibrosis resulting from abnormal uromodulin accumulation within tubular cells.
Case Description
A 57-year-old woman with hypothyroidism, migraines, and CKD presented for worsening renal dysfunction. Given an extensive family history of CKD, ESRD, and kidney transplantation, she was initially referred with concern for autosomal dominant polycystic kidney disease (ADPKD). However, renal imaging demonstrated only a solitary renal cyst without enlarged polycystic kidneys, making ADPKD less likely. In addition, kidney biopsy showed glomerulomegaly, global glomerulosclerosis, extensive tubular atrophy with thyroidization, interstitial fibrosis, and severe arterio- and arteriolosclerosis without immune complex-mediated disease, leaving the etiology unclear. Review of a deceased relative’s records later revealed genetically confirmed uromodulin-associated kidney disease. Subsequent genetic testing identified a pathogenic UMOD mutation, confirming ADTKD-UMOD. The patient was started on febuxostat for hyperuricemia.
Discussion
This case highlights the diagnostic challenge of ADTKD-UMOD in patients with familial CKD and nonspecific imaging findings. The combination of autosomal dominant family history, bland urinary findings, and chronic tubulointerstitial pathology should prompt consideration of ADTKD-UMOD and genetic testing, particularly when suspected ADPKD lacks characteristic radiologic features. Recognition of this entity is important for prognosis, family counseling, kidney donor screening, and transplant planning.