Abstract: FR-PO0145
Uromodulin-Related Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-UMOD): A Case Report
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
- Alzghoul, Husam Mohammad, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States
- Charles, River, Arkana Laboratories, Little Rock, Arkansas, United States
Introduction
ADTKD-UMOD is one of the autosomal dominant tubulointerstitial kidney disease, characterized by progressive tubulointerstitial fibrosis and decline in kidney function, which may ultimately lead to end-stage kidney disease. The disease is caused by mutations in the UMOD gene. UMOD is a kidney-specific protein that is synthesized by the thick ascending limb (TAL) of the loop of Henle and secreted into the urine.
Case Description
A 64-year-old man with a history of smoking, hypertension, gout, and hypercalcemia presented with chronic kidney disease stage 3b (serum creatinine 4.29 mg/dL). His family history is significant for end-stage kidney disease in his father, who died while receiving hemodialysis. Kidney biopsy showed severe interstitial fibrosis and tubular atrophy with the TALs of the loop of Henle showing multiple fuchsinophilic intracytoplasmic inclusions on trichrome stain. Immunostaining for UMOD highlighted these tubular segments, supporting intracellular UMOD accumulation. A heterozygous likely pathogenic / pathogenic missense variant in the UMOD gene was identified by Natera study.
Discussion
ADTKD-UMOD is an underdiagnosed hereditary cause of progressive chronic kidney disease, and few physicians are aware of this disease entity. Mutation resulting in protein misfolding, with subsequent retention of protein in the endoplasmic reticulum and mistargeting of UMOD in the TAL of the loop of Henle which can be noted as intracytoplasmic inclusions. This case emphasizes the importance of integrating clinical history, as this disease is commonly associated with hyperuricemia and gout, family history and kidney biopsy findings -intracytoplasmic inclusions. Finally, although genetic study considers the gold-standard diagnostic test, serum and urinary UMOD can serve as simple screening tests.
Trichrome stain at low and high power (inset). Image demonstrates severe IFTA involving approximately 50% of the cortical sample. Inset shows intracytoplasmic inclusions within the TALs of the loop of Henle.