Kidney Week

Abstract: FR-PO0102

Autosomal Dominant Alport Syndrome in Women: A Three-Patient Case Series

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

• Imtiaz, Rabel Gul, LSU Health Shreveport, Shreveport, Louisiana, United States

Rabel Gul Imtiaz, MD

• Ahmed, Mohamed Mohyedin, LSU Health Shreveport, Shreveport, Louisiana, United States

Mohamed Mohyedin Ahmed, MBChB

• Zubair, Maha, LSU Health Shreveport, Shreveport, Louisiana, United States

Maha Zubair, MD, MBBS

• Sachdeva, Bharat, LSU Health Shreveport, Shreveport, Louisiana, United States

Bharat Sachdeva, MD

• Morisetti, Phani Purushotham, LSU Health Shreveport, Shreveport, Louisiana, United States

Phani Purushotham Morisetti, MD, FASN

Introduction

Autosomal Dominant Alport Syndrome (ADAS), caused by heterozygous COL4A3/COL4A4 variants, is an underrecognized cause of Chronic Kidney Disease (CKD). ADAS often lacks classic extrarenal features and can mimic other glomerular diseases.

Case Description

We present 3 women with genetically confirmed ADAS and no extrarenal symptoms. Case 1: A 45-year-old with SLE was referred in 2018 for eGFR loss without proteinuria. Kidney biopsy showed interstitial fibrosis and acute tubular injury; it was classified as "LN Class II." She received rituximab and belimumab. In 2025, she developed new-onset proteinuria (2-3 g/g). A repeat biopsy with electron microscopy (EM) revealed glomerular basement membrane (GBM) thinning and irregular alterations. Genetic testing identified a COL4A3 c.785G>A variant (figure1). Case 2: A 62-year-old diagnosed with minimal change disease at age 47 had steroid-resistant proteinuria and progressive CKD. Genetic testing, prompted by her son’s unexplained hematuria, identified a COL4A3 c.2323_2324del frameshift variant. Case 3: A 27-year-old with no family history of kidney disease developed massive proteinuria (10 g/day) during her fourth pregnancy without hypertension. Postpartum biopsy EM showed GBM multilamination, variable thickness, and "basket-weave" patterns. Genetic testing identified 2 different variants; COL4A4 c.4684del & c.2092G>A.

Discussion

These cases illustrate the phenotypic variability of ADAS and common diagnostic pitfalls. Case 1 highlights how ADAS can present even in patients with autoimmune diseases, leading to unnecessary extensive immunosuppression. Case 2 was also misdiagnosed as minimal change disease, again using immunosuppression with potential risks. Case 3 demonstrates how pregnancy-induced hyperfiltration can unmask GBM defects. EM remains a critical diagnostic tool; findings of GBM thinning or lamellation should prompt genetic evaluation regardless of extrarenal symptoms. The KDIGO 2024 CKD guideline recognizes genetic testing as an emerging valuable component for evaluation, noting that over 10% of people with CKD carry pathogenic variants. Early molecular diagnosis is essential to initiate appropriate therapy, avoid unnecessary immunosuppression, and guide family cascade screening.