Tip Lesion Variant of Focal Segmental Glomerulosclerosis in Familial Relapsing Polychondritis
DOI:
https://doi.org/10.61882/ijkd.3.03.8871Keywords:
Familial relapsing polychondritis, Tip lesion FSGS, nephrotic syndrome, autoimmunity, corticosteroids.Abstract
Relapsing polychondritis (RP) is a rare autoimmune disorder with minimal reported renal involvement. We describe the first case of tip lesion variant of focal segmental glomerulosclerosis (FSGS) in a 60-year-old male with familial RP. The patient initially presented with nephrotic syndrome concomitant with RP, which was diagnosed 17 years ago; renal biopsy revealed minimal change disease at that time. Over the subsequent 17 years, he experienced four RP flares without nephrotic syndrome recurrence until his recent presentation with severe nephrotic syndrome. Repeated renal biopsy confirmed tip lesion variant of FSGS, demonstrating excellent response to corticosteroid therapy with prednisolone 1 mg/kg/day; proteinuria declined from 7g/24h to 0.98g/24h and serum albumin increased from 0.9g/dL to 2.2g/dL within three months. This case underscores the importance of considering FSGS in RP-associated nephrotic syndrome and suggests potential shared immune/genetic mechanisms. To our knowledge, this represents both the first report of tip lesion FSGS in RP and the first documented familial RP case with FSGS development.
Downloads
References
1. Mertz P, Sparks J, Kobrin D, Ogbonnaya SA, Sevim E, Michet C, et al. Relapsing polychondritis: Best Practice & Clinical Rheumatology. Best Pract Res Clin Rheumatol. 2023;37(1):101867.
2. Grygiel-Górniak B, Tariq H, Mitchell J, Mohammed A, Samborski W. Relapsing polychondritis: state-of-the-art review with three case presentations. Postgrad Med. 2021;133(8):953–63.
3. Botey A, Navasa M, del Olmo A, Montoliu J, Ferrer
O, Cardesa A, et al. Relapsing polychondritis with segmental necrotizing glomerulonephritis. Am J Nephrol. 1984;4(6):375–8.
4. Espinoza LR, Richman A, Bocanegra T, Pina I, Vasey FB, Rifkin SI, et al. Immune complex-mediated renal involvement in relapsing polychondritis. Am J Med. 1981;71(1):181–3.
5. Dalal BI, Wallace AC, Slinger RP. IgA nephropathy in relapsing polychondritis. Pathology. 1988;20(1):85–9.
6. Barzegar C, Vrtovsnik F, Devars JF, Mignon F, Pradalier
A. Vasculitis with mesangial IgA deposits complicating relapsing polychondritis. Clin Exp Rheumatol.
2002;20(1):89–91.
7. Satoh F, Kohno M, Ohmoto A, Ieko M. [A case of relapsing polychondritis with IgA nephropathy]. Nihon Rinsho Meneki Gakkai Kaishi. 1998;21(1):41–7.
8. Meignan F, Maillefert F, Bargues L, Colle B, Colon S.
[Association of glomerular nephropathy with IgA deposits and relapsing polychondritis]. Ann Med Interne (Paris). 1992;143(8):548–50.
9. Lee JE, Lee EK. A case of membranous nephropathy associated with relapsing polychondritis. Kidney Res Clin Pract. 2012;31(4):253–6.
10. Rice C, Kosuru V, White JJ, Beek CV, Elam R, Clemenshaw M, et al. Membranous nephropathy complicating relapsing polychondritis: A case report. Journal of Clinical Nephrology. 2021;5(3):084–7.
11. Canllavi E, Alonso M, Fernandez M, Gutiérrez E, Morales E. Relapsing polychondritis and focal segmental glomerulosclerosis: Coincidence or causality. Nefrologia (Engl Ed). 2020;40(3):360–2.
12. Aragón A, Morillas L, López JI, Gutiérrez-Millet V.
[Relapsing polychondritis with focal and segmental glomerulosclerosis]. Med Clin (Barc). 1989;92(11):437.
13. Lambrozo J, Baubion D, Brodaty Y, Leclerc JP. [Chronic atrophic polychondritis and renal and cardiopulmonary amylosis: a case report and literature review (author’s transl)]. Ann Med Interne (Paris). 1981;132(3):186–9.
14. Masterson R, Sheerin N, Abbs I, Goldsmith D. Late allograft loss due to recurrence of p-ANCA-associated systemic vasculitis in a patient with relapsing polychondritis. Nephrol Dial Transplant. 2001;16(8):1705–7.
15. Breviglieri L, Zizzi F, Rocchi P, Frasca G, D’Arcangelo G, Rimondi C, et al. [Relapsing polycondritis associated with microscopic polyangiitis: description of a clinical case]. Reumatismo. 2001;53(2):151–5.
16. Feng J, Zuo X, Gui L, Qi J, Guo X, Lv Q, et al. Genetic basis of relapsing polychondritis revealed by family-based whole-exome sequencing. Int J Rheum Dis. 2020;23(5):641–6.
17. Borgia F, Giuffrida R, Guarneri F, Cannavò SP. Relapsing Polychondritis: An Updated Review. Biomedicines. 2018;6(3).
18. Lim BJ, Yang JW, Do WS, Fogo AB. Pathogenesis of Focal Segmental Glomerulosclerosis. J Pathol Transl Med. 2016;50(6):405–10.
19. Salfi G, Casiraghi F, Remuzzi G. Current understanding of the molecular mechanisms of circulating permeability factor in focal segmental glomerulosclerosis. Front Immunol. 2023;14:1247606.
20. Mungan S, Turkmen E, Aydin MC, Saglam AE, Baydar DE. Tip lesion variant of primary focal and segmental glomerulosclerosis: clinicopathological analysis of 20 cases. Ren Fail. 2015;37(5):858–65.
21. Sedlacek M, Pettus JR. Complete remission of tip lesion variant focal segmental glomerulosclerosis (FSGS) with the Janus Kinase (JAK) inhibitor tofacitinib. CEN Case Rep. 2022;11(2):225–30.
Downloads
Published
Data Availability Statement
The datasets generated during and/or analyzed during this case report are included in this published article (including laboratory values, biopsy findings, and treatment outcomes). De-identified patient data are available from the corresponding author upon reasonable request, pending ethical approval. Images of renal biopsy (Trichrome stain, immunofluorescence) are provided in Figures 4A/B of the manuscript.
