Kidney Week

Abstract: FR-PO0101

A Rare Concurrent Diagnosis of Autosomal Dominant Alport Syndrome in a Patient with DiGeorge Syndrome

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

• Nguyen, Tam-Dan Claire, University of California Irvine, Irvine, California, United States

Tam-Dan Claire Nguyen

• Gee, Caroline A., University of California Irvine, Irvine, California, United States

Caroline A. Gee

• Hanna, Ramy Magdy, University of California Irvine, Irvine, California, United States

Ramy Magdy Hanna, MD, FASN

Introduction

Renal dysfunction in patients with DiGeorge Syndrome is often attributed to congenital or structural anomalies. However, progressive decline may indicate alternative or concurrent pathology. Alport Syndrome is a hereditary glomerular disease characterized by hematuria, proteinuria, and progressive renal dysfunction. We present a case of progressive renal decline in a patient with DiGeorge Syndrome, who was found to have autosomal dominant (AD) Alport Syndrome.

Case Description

A 29-year-old Hispanic female with DiGeorge Syndrome and maternal family history of ESRD presented after one year of renal decline, with creatinine increasing from 1.7 to 2.6 mg/dL. Workup showed BUN 24 mg/dL, eGFR 28 mL/min/1.73 m², urine 4–10 RBC/HPF, and nephrotic-range proteinuria of 5.27 g/day. Renal ultrasound showed small echogenic kidneys (7.2-8.5 cm) without hydronephrosis, consistent with chronic parenchymal disease but not explaining the significant proteinuria. Concern for additional glomerular processes prompted evaluation for secondary focal segmental glomerulosclerosis and hereditary nephropathy. Genetic testing identified a heterozygous COL4A mutation consistent with AD Alport disease. Biopsy was deferred due to small kidney size and limited yield. The patient was managed with amlodipine for blood pressure control, Bicitra for metabolic acidosis, and anticipatory transplant referral planning. Audiology and ophthalmology evaluations were recommended.

Discussion

Although both DiGeorge and Alport Syndromes may have renal manifestations, their association is not well established, suggesting this case represents a rare concurrent diagnosis. DiGeorge syndrome is associated with congenital renal or urinary tract anomalies. Meanwhile, Alport
syndrome is caused by COL4A gene mutations that impair collagen IV basement membrane integrity in the kidney, eye, and cochlea, leading to glomerular injury and potential ocular or auditory effects. AD Alport syndrome accounts for approximately 5% of Alport syndrome cases and is associated with variable, often slower progression than X-linked disease; however, ESRD still occurs in 14–30% of AD cases. This case highlights the risk of diagnostic anchoring in patients with established genetic conditions and emphasizes the importance of early genetic testing when renal decline is not fully explained by known structural disease.