Abstract: FR-PO0706
Primary Podocytopathy Phenotype with APOL1 High-Risk Genotype Presenting as Severe Nephrotic Syndrome During Pregnancy
Session Information
- Glomerular Diseases: Membranous Nephropathy, FSGS, and Podocytopathies
October 23, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Glomerular Diseases
- 1402 Glomerular Diseases: Clinical, Outcomes, and Therapeutics
Authors
- Arwani, Suneel, The University of Mississippi Medical Center, Jackson, Mississippi, United States
- Parkash, Om, Montefiore Einstein Medical Center, New York, New York, United States
- Jaradat, Raghad, The University of Mississippi Medical Center, Jackson, Mississippi, United States
- Kumari, Nikita, Jinnah Medical and Dental College, Karachi, Sindh, Pakistan
- Jesswani, Yashpal, Jinnah Medical and Dental College, Karachi, Sindh, Pakistan
- ., Archita, Ziauddin University, Karachi, Sindh, Pakistan
- Shahid, Shahzad, The University of Mississippi Medical Center, Jackson, Mississippi, United States
- Hina, Fnu, Icahn School of Medicine at Mount Sinai, New York, New York, United States
- Kumari, Lata, Isra University Faculty of Medicine and Allied Medical Sciences, Hyderabad, Sindh, Pakistan
- Yunas, Samia, The University of Mississippi Medical Center, Jackson, Mississippi, United States
- Abro, Sheeraz, The University of Mississippi Medical Center, Jackson, Mississippi, United States
Introduction
Focal segmental glomerulosclerosis (FSGS) includes primary, secondary, and genetic forms with differing treatment implications. Distinguishing primary from genetic FSGS during pregnancy is particularly challenging because therapeutic options are limited by maternal fetal safety concerns. We present a rare case of severe nephrotic syndrome during pregnancy with biopsy findings favoring primary podocytopathy and concomitant APOL1 high risk genotype.
Case Description
A 26 year old pregnant woman at 21 weeks gestation with hypertension presented with progressive edema, dyspnea, and severe nephrotic syndrome. Laboratory evaluation demonstrated 24 hour urine protein excretion approaching 40 g/day, urine protein creatinine ratio (UPCR) 18.5 g/g, severe hypoalbuminemia, and preserved kidney function with serum creatinine 0.5 to 0.6 mg/dL.
Kidney biopsy demonstrated FSGS with diffuse greater than 80% podocyte foot process effacement and minimal chronicity, favoring a primary podocytopathy phenotype. Expanded evaluation revealed an APOL1 high risk genotype.
Management was challenging because ACE inhibitors, angiotensin receptor blockers, and SGLT2 inhibitors were contraindicated during pregnancy, while APOL1 associated disease may demonstrate limited immunosuppressive responsiveness. Given the biopsy findings, tacrolimus and prednisone were initiated. Verapamil was added for adjunctive antiproteinuric effect and tacrolimus optimization, and therapeutic enoxaparin was started because of nephrotic syndrome associated hypercoagulability risk.
Following treatment, proteinuria improved with UPCR decreasing from 14 to 11.4 g/g, volume status stabilized, and kidney function remained preserved.
Discussion
This case highlights the complexity of nephrotic syndrome during pregnancy when histopathologic and genetic findings suggest overlapping pathogenic mechanisms. Diffuse foot process effacement supported treatment for a potentially immunosuppressive responsive podocytopathy phenotype despite concomitant APOL1 risk alleles.
Conclusion: This case demonstrates the importance of integrating histopathologic and genetic data in severe nephrotic syndrome during pregnancy. Kidney biopsy identified a potentially treatment responsive phenotype despite APOL1 high risk genotype, supporting initiation of immunosuppressive therapy with partial reduction in proteinuria and preserved kidney function.