Autosomal Recessive Hypercholesterolemia Caused by a Novel LDLRAP1 Variant and Membranous Nephropathy in a Chinese Girl: A Case Report

Frontiers in Cardiovascular Medicine

article

Siqin Feng¹  Xinyue Zhao¹  Yifei Wang²  Yiyang Wang²  Gang Chen⁴  Shuyang Zhang¹ 

[1] Department of Cardiology, Peking Union Medical College Hospital and Chinese Academy of Medical Sciences and Peking Union Medical College;School of Medicine, Tsinghua University;Department of Cardiology, Beijing Tsinghua Changgung Hospital, Tsinghua University;Department of Nephropathy, Peking Union Medical College Hospital

关键词: nephrotic syndrome;    membranous nephropathy;    homozygous familial hypercholesterolemia;    LDLRAP1;    hyperlipidemia;   

DOI  :  10.3389/fcvm.2022.811317

学科分类：地球科学(综合)

来源: Frontiers

【 摘 要 】

Background Autosomal recessive familial hypercholesterolemia (ARH) is a very rare lipid metabolic monogenic disorder caused by homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 ( LDLRAP1 ) gene. It is a life-threatening disease characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C), xanthomas, and premature coronary artery disease. Membranous nephropathy (MN) is less commonly observed in children. Here, the co-existence of ARH and MN was diagnosed in a Chinese girl. Case Presentation We present the case of a 13-year-old girl who was admitted with the typical symptom of nephrotic syndrome with an abnormally high serum LDL-C level. Gene sequencing revealed a novel homozygous LDLRAP1 variant ( NM_015627 : c.383 T>G, p.V128G), and the patient was diagnosed with ARH. A renal biopsy suggested that the nephrotic syndrome in the girl was induced by MN, but no evidence of secondary MN was found. A thorough examination was performed to explore the association between MN and ARH. Medical management with angiotensin receptor blockers and aggressive lipid-lowering treatment led to remission of proteinuria and clinical condition stabilization during 2-year follow-up. Conclusions This is the first case of co-existence of MN and ARH in a teenager carrying a novel pathogenic mutation of the LDLRAP1 gene ( NM_015627 : c.383 T>G, p.V128G).

【 授权许可】

CC BY