A Rare Late Presentation of Galloway Mowat Syndrome (GAMOS) with Membranous Nephropathy

作者：Sandeep Raja Sasidharan, Tahir Ahmed Jatoi, Eugene Kwabena Yeboah, Subodh J. Saggi · 发表于：Journal of the American Society of Nephrology · 年份：2024 · DOI：10.1681/asn.2024ew2hcyvc · 被引用次数：1 · 研究领域：Central Venous Catheters and Hemodialysis、Renal Diseases and Glomerulopathies

Introduction: GAMOS is a rare autosomal recessive disorder initially described in 1968. It is characterized by various neurological and renal abnormalities, with heterogeneous clinical and histopathological phenotypes reported. Renal presentations range from asymptomatic proteinuria to SRNS. Here, we present a unique case of GAMOS diagnosed in an elderly black male with a WDR73 gene deletion. Case Description: A 64-year-old male with recurrent DVT on AC, UC, HTN, and CKD. He presented with worsening proteinuria due to membranous nephropathy despite being on Tacrolimus and low-dose steroids along with enalapril. He complained of increased urinary frequency with frothing. He was vitally stable and exam unremarkable. Labs were creat of 1.0, alb 3.5, UPCR 2.8, C3 127, C4 41, urinalysis showed protein >500 and rest were negative. The genetic test was negative for APOL1 and positive for WDR73 gene deletion. Biopsy showed 5/25 globally sclerosed glomeruli, with 20% mild to moderate interstitial fibrosis. IF had a granular pattern along capillary walls for 3+ IgG, 1+C3, 2+ kappa, and 2+ lambda light chains, rest negative, including M-type PLA2R. EM showed a markedly irregular contour of BM with subepithelial and intramembranous electron-dense deposits. Diagnosed as membranous glomerulonephritis stage 2-3, PLA2R negative. THSD7A and NELL-1 antigens are pending. Patient was advised Rituximab infusion and will follow up with his nephrologist in Barbados. Discussion: Homozygous mutations...