A rare case of nephrotic syndrome and Tangier disease

被引:0
作者
Rouvick Gama
Elaine Murphy
Jon Salisbury
Shireen Kassam
Naomi Simmonds
Candice Roufosse
Robert Elias
机构
[1] King’s College Hospital NHS Foundation Trust,
[2] National Hospital for Neurology and Neurosurgery,undefined
[3] Imperial College Healthcare NHS Foundation Trust,undefined
来源
CEN Case Reports | 2023年 / 12卷
关键词
Nephrotic syndrome; Tangier disease; Membranous;
D O I
暂无
中图分类号
学科分类号
摘要
Rarely, disorders of lipid metabolism cause nephrotic syndrome with progressive kidney disease. Tangier disease is a rare condition belonging to this family of lipid disorders; however, it is not associated with kidney disease. We report a patient presenting with nephrotic syndrome, leading to the unmasking of Tangier disease. A 34-year-old man presented with ankle oedema, nephrotic-range proteinuria and hypoalbuminaemia. Kidney biopsy demonstrated membranous nephropathy with features of immunoperoxidase staining, suggesting a secondary aetiology. Acute serology was negative. Imaging showed lymphadenopathy with splenomegaly suggestive of lymphoproliferative disorder. Bone marrow biopsy revealed foamy macrophages with widespread lipid deposition. Genomic sequencing revealed a pathological homozygous variant for ATP-binding cassette subfamily A member 1 (ABCA1) c.1510-1G > A, consistent with Tangier disease. Review of the ultrastructural kidney biopsy features demonstrated, in addition to membranous subepithelial and intramembranous usual-type electron-dense deposits, intramembranous osmiophilic lipid deposits similar to those in LCAT deficiency. The patient’s renal function gradually declined (serum creatinine 133 µmol/L); therefore, he was started on rituximab. Metabolic disorders causing nephrotic syndrome are rare and even more so their association with membranous nephropathy. These should be considered in cases with unexplained persistent nephrotic syndrome with progressive kidney disease and lipid deposits on renal biopsy.
引用
收藏
页码:265 / 269
页数:4
相关论文
共 93 条
[1]  
Radhakrishnan J(1993)The nephrotic syndrome, lipids, and risk factors for cardiovascular disease Am J Kidney Dis 22 135-142
[2]  
Appel AS(1977)Relationship among the concentrations of serum lipoproteins and changes in their chemical composition in patients with untreated nephrotic syndrome Eur J Clin Invest 7 563-570
[3]  
Valeri A(2016)Systemic and renal lipids in kidney disease development and progression Am J Physiol-Renal Physiol 310 F433-F445
[4]  
Appel GB(1975)The pathology of Tangier disease. A light and electron microscopic study Am J Pathol 43 228-236
[5]  
Gherardi E(1964)The Inheritance of high density lipoprotein deficiency (Tangier disease) J Clin Invest 43 228-236
[6]  
Rota E(2020)Tangier disease Curr Opin Lipidol 31 80-84
[7]  
Calandra S(2017)Clinical utility gene card for: Tangier disease Europ J Human Gene 25 e1-3
[8]  
Genova R(2021)The Role of the ATP-binding cassette A1 (ABCA1) in human disease Int J Molec Sci 22 1593-1043
[9]  
Tamborino A(1979)Multiple rare alleles contribute to low plasma levels of hdl cholesterol Science 2004 305-47
[10]  
Wahl P(1862)2017 Hepatic ABCA1 deficiency is associated with delayed apolipoprotein B secretory trafficking and augmented VLDL triglyceride secretion Biochimica et Biophysica Acta (BBA) Mole Cell Biol Lipids 10 1035-1383