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Kidney Week

Abstract: SA-PO856

Collapsing Focal Segmental Glomerulosclerosis (FSGS) with APOL1 Gene Mutation in Adult-Onset Still Disease (AOSD)

Session Information

Category: Glomerular Diseases

  • 1401 Glomerular Diseases: From Inflammation to Fibrosis

Authors

  • AlShanableh, Zain, UPMC, Pittsburgh, Pennsylvania, United States
  • Ahmad, Syeda B., UPMC, Pittsburgh, Pennsylvania, United States
Introduction

Collapsing FSGS is a distinct variant characterized by hypertrophy and hyperplasia of podocytes with glomerular tuft collapse. Collapsing FSGS is mostly seen with HIV or COVID-19 and cases not attributed to HIV are often idiopathic. Amongst the other secondary causes are autoimmune diseases such as AOSD. We present a case of collapsing FSGS attributed to AOSD in a high risk patient with APOL1 gene mutation.

Case Description

Our patient is a 24-year-old incarcerated African-American male with history of left nephrectomy who presented with orbital and facial swelling. He reported subjective fevers for 4 to 5 months, 40 pound weight loss; pain, stiffness, and swelling in bilateral hands.

On exam, patient was febrile to 101 Fahrenheit, tachycardic to 110 beats/minute with periorbital edema, swelling and tenderness of bilateral second-fourth proximal interphalangeal joints. Skin examination revealed a rash over his right eyelid and bilateral knuckles. Lab investigations revealed WBCs 13.1 with 82% neutrophils, creatinine 4.3 mg/dL, albumin 2.1 g/dL, AST 206 IU/L, ALT 292 IU/L, ALP 130 IU/L, total bilirubin 0.5, ferritin 1737 ng/mL, ESR 104, CRP 7.3, urine protein/creatinine ratio (UPCR) 14,450. Other than ANA positivity 1:80, his additional work up, including hepatitis profile, TB, COVID, HIV, syphilis, CMV, EBV, C3/C4, and Anti-CCP, was negative. Renal biopsy was consistent with collapsing FSGS with mild-moderate interstitial fibrosis. Malignancy screening was negative. Genetic testing for APOL1(G1 & G2) was positive.

Discussion

AOSD displays renal manifestations in 25% of cases including mesoangioproliferative glomerulonephritis. Collapsing FSGS secondary to AOSD is extremely rare. To the best of our knowledge, there have been four previously reported cases. In our reported case, the renal biopsy provided a histological diagnosis of collapsing FSGS. Serologic and infectious workup were negative and a diagnosis of AOSD was established after fulfilling the Yamaguchi criteria. Our case is the first reported case to describe collapsing FSGS attributed to AOSD in a high risk patient with APOL1 gene mutation. Further studies are needed to determine treatment options. Our patient was treated with losartan and prednisone 60mg daily with symptom improvement and UPCR downtrended to 8,153 within 2 months.