c3 glomerulopathy

Open accessCase ReportArticle ID: jcn-aid1117Views: 31Download: 40

Rare Case of Dense Deposition Disease with Combined C3 and C4d Deposits with MYH9-related Mutation

Harish Prabhu*, Venkat Vellanki, Suvarna Dhake and Sathiyan Karunanithi

Published on: 14th November, 2023

Background: The C3 glomerulopathies are a group of rare forms of glomerulonephritis with an incidence of 1-2 cases per million. It is mainly characterized by dysregulation of the alternative complement pathway. It is further classified morphologically based on electron microscopy ultrastructural findings into Dense Deposition Disease (DDD) and C3 glomerulonephritis. DDD is normally characterised by C3 Deposits. Case: We report a rare case of a young Emirati male who presented with sub nephrotic proteinuria and microscopic haematuria on routine evaluation. Renal biopsy showed features of DDD with combined C3 and C4 deposits. The retinal evaluation showed features of Drusen classically seen in DDD. Genomic study showed heterozygous mutation in c.5842G>C (p.Asp1948His) variant of uncertain significance in MYH9 gene. Discussion: C3 Glomerulopathy is a type of immune mediated disease previously classified as membranoproliferative glomerulonephritis. DDD is mainly characterised by C3 deposits in the glomerular basement Membrane. Our case has both C3 and C4d deposits, which is a rare entity. It shows the activation of both classical and alternate pathways. Conclusion: Dense deposition disease is a rare complement mediated glomerulopathy. It is characterised by C3 deposits. Dense deposition disease with combined C3 and C4d deposits is a new entity. The treatment and prognosis of such cases will be different and unique compared to the normal cases of DDD.

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Abstract DOI: 10.29328/journal.jcn.1001117 Read Full Article HTML Read Full Article PDF

Open accessCase ReportArticle ID: jcn-aid1147Views: 9Download: 14

Idiopathic Immune Complex-Mediated Membranoproliferative Glomerulonephritis: A Significant Cause of End-Stage Kidney Disease in Children

Bouchoual M*, Dadi K, El Khand A, El Ouazzani M, Anibar S, Jabrane M and Arrayhani M

Published on: 29th January, 2025

Introduction: Membranoproliferative glomerulonephritis (MPGN) is a significant cause of glomerulopathy and chronic kidney disease (CKD) or end-stage renal disease (ESRD) in children. The deposition of circulating immune complexes in the glomerulus and abnormal activation of the alternative complement pathway is believed to trigger the disease. However, there is limited knowledge regarding the optimal treatment and prognosis for children with immune complex-associated MPGN (IC-MPGN) and C3 glomerulopathy (C3G).Case report: We report the case of a 14-year-old child admitted for rapidly progressive glomerulonephritis with anuria managed on haemodialysis. The kidney biopsy showed an appearance compatible with MPGN on light microscopy, with immunoglobulin and complement C3 deposits on direct immunofluorescence. The prognosis was poor, with rapid progression to ESRD despite treatment combining corticosteroid therapy and immunosuppressants.Discussion and conclusion: Evaluating the effectiveness of different therapeutic approaches for MPGN in children is challenging due to the small sample sizes and the short duration of the published controlled studies. As a result, it is crucial to conduct more comprehensive trials that focus on both prognosis and treatment options.

Abstract DOI: 10.29328/journal.jcn.1001147 Read Full Article HTML Read Full Article PDF

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