Abstract: PUB174
At Last, the Culprit Is Found: Autosomal Dominant Tubulointerstitial Kidney Disease
Session Information
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases
Authors
- Cardenas Esprit, Ivette, North Florida Regional Medical Center Inc, Gainesville, Florida, United States
- Esprit, Don Henry, HCA Florida Lake City Hospital, Lake City, Florida, United States
Group or Team Name
- North Florida Kidney Care.
Introduction
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is an uncommon inherited disorder characterized by progressive loss of kidney function, nonsignificant urinalysis and tubulointerstitial fibrosis in the absence of glomerular lesions. Chronic Kidney Disease progresses slowly, and End Stage Renal Disease (ESRD) is almost inevitable with the onset between the ages of 20-70 years.
It is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). UMOD mutation is the most common subtype which accounts for approximately 60% of Cases. In addition to CKD, hyperuricemia and gout are common. Genetic testing is preferred over renal biopsy when suspected. There is no specific therapy to this date for patients diagnosed with ADTKD. We present a case of a caucasian male who genetically tested positive for UMOD-ADTKD.
Case Description
The patient is a 65-year-old male with a PMH notable for ESRD with an unknown etiology who received a deceased donor kidney transplant (DDKT) on 2/17/1994. He is receiving immunosuppressive medications, including Belatacept, mycophenolate, and prednisone.
Of note he has a significant family history of CKD, namely deceased maternal grandfather and mother who were all ESRD. He has two younger brothers with chronic kidney disease, possibly due to diabetic nephropathy. After 20 years of post-renal transplant, kidney gene panel revealed UMOD-ADTKD.
Discussion
Many CKD patients who progress to ESRD on renal replacement therapy or receive kidney transplants are often diagnosed as idiopathic. Poor diagnostic methods may overlook diseases with higher prevalence that are traditionally considered rare. ADTKD is no stranger to the aforementioned. To improve the comprehension and management of these rare diseases, it is essential to perform randomized controlled trials, which necessitate large cohorts to ensure sufficient statistical power. Nephrologists should conduct more kidney biopsies and genetic tests to better understand these potentially common but underdiagnosed diseases.