Kidney Week

Abstract: TH-PO0837

Beyond Preeclampsia: A Hidden Hereditary Nephropathy Revealed in Late Gestation

Session Information

• Glomerular Case Reports: Potpourri
  November 06, 2025 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Glomerular Diseases

• 1402 Glomerular Diseases: Clinical, Outcomes, and Therapeutics

Authors

• Bilal, Ali M, The University of Texas Medical Branch at Galveston Department of Internal Medicine, Galveston, Texas, United States

Ali M Bilal, MD

• Kumar, Anand, The University of Texas Medical Branch at Galveston Department of Internal Medicine, Galveston, Texas, United States

Anand Kumar, MD

• Shenawi, Ibrahim S, The University of Texas Medical Branch at Galveston Department of Internal Medicine, Galveston, Texas, United States

Ibrahim S Shenawi, MD, MBA

• Tsen, Adam Weilum, The University of Texas Medical Branch at Galveston Department of Internal Medicine, Galveston, Texas, United States

Adam Weilum Tsen, MD

• Mauiyyedi, Shamila, The University of Texas Medical Branch at Galveston, Galveston, Texas, United States

Shamila Mauiyyedi, MD

• Kochar, Tina, The University of Texas Medical Branch at Galveston Department of Internal Medicine, Galveston, Texas, United States

Tina Kochar, MD, FASN

Introduction

Alport syndrome is a hereditary nephropathy caused by mutations in genes encoding type IV collagen, most commonly COL4A5 in the X-linked form. While males typically present with progressive renal failure, sensorineural hearing loss, and ocular changes, females have a variable disease course due to X-chromosome inactivation. Pregnancy can stress the renal system, unmasking underlying kidney disorders in asymptomatic women. Early identification of hereditary kidney diseases has important implications for maternal care, prognosis, and genetic counseling.

Case Description

A 25-year-old woman at 35 weeks gestation presented to routine prenatal care with an elevated serum creatinine of 1.07 mg/dL (baseline 0.9 mg/dL in 2020) and an eGFR of 65. Urine protein-to-creatinine ratio was elevated at 8.5 mg/g. Renal ultrasound revealed asymmetric kidneys and a small cortical cyst in the left kidney. Autoimmune and glomerular disease workup—ANA, anti-dsDNA, complement, anti-PLA2R, SPEP, and UPEP—was unremarkable. Vitamin D was severely deficient (<13 ng/mL). Creatinine worsened to 1.4 mg/dL, prompting admission to a high-risk OB service for early delivery at 37 weeks. Postpartum nephrology follow-up revealed a family history of her father requiring dialysis and kidney transplant following early onset hearing loss. A kidney biopsy showed glomerular basement membrane abnormalities consistent with Alport syndrome, mild IgA-dominant mesangial deposits, and 15% interstitial fibrosis with tubular atrophy. Genetic testing confirmed a pathogenic COL4A5 mutation, consistent with X-linked Alport syndrome. She was referred to genetic counseling for further evaluation and family cascade testing.

Discussion

This case underscores the role of pregnancy in uncovering latent hereditary kidney disease and highlights the importance of considering Alport syndrome in young females presenting with new-onset CKD, especially in the setting of significant proteinuria and a suggestive family history. Diagnosis in females is delayed due to milder or nonspecific presentations. The postpartum diagnosis in this patient facilitated appropriate follow-up, genetic counseling, and long-term management. Recognition of hereditary nephropathies in women of childbearing age is essential for optimizing both maternal and fetal outcomes and informing future reproductive decisions.

Digital Object Identifier (DOI)

• doi: 10.1681/ASN.2025a8b4h9w9