Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation

Kidney Int. 2014 Feb;85(2):416-24. doi: 10.1038/ki.2013.335. Epub 2013 Sep 11.


Lipoprotein glomerulopathy is a rare inherited renal disease, caused by mutation of the APOE gene, characterized by proteinuria and nephrotic syndrome with elevated serum apoE. Since its treatment and outcome are unknown, we retrospectively studied 35 patients within 31 unrelated Han families with biopsy-proven lipoprotein glomerulopathy residing in the same county in southwest China. DNA sequencing detected the APOE Kyoto mutation (p. Arg25Cys) in all patients and 28 asymptomatic relatives. All shared the same ɛ3 allele. The patients presented with proteinuria, higher total triglyceride, and serum apoE levels relative to non-carriers. The serum apoE and triglyceride levels of asymptomatic carriers were between those of the patients and non-carriers. Sixteen patients received fenofibrate treatment for over 12 months. Six reached complete remission (proteinuria under 0.3 g/day with stable serum creatinine) with intensive control of their lipid profile (normalized serum apoE and triglycerides under 100 mg/dl). Eight reached partial remission. At 3 years of follow-up, patients treated with fenofibrate had superior survival and stable renal function. Thus, fenofibrate can induce lipoprotein glomerulopathy remission and the fibrate effects depend on the degree of lipid control and baseline proteinuria. Moreover, normalization of serum apoE and triglycerides can be used to judge the efficacy of lipid-lowering treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Apolipoprotein E2 / blood
  • Apolipoprotein E2 / genetics*
  • Biomarkers / blood
  • Biopsy
  • Case-Control Studies
  • China
  • Creatinine / blood
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Fenofibrate / therapeutic use*
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Hypolipidemic Agents / therapeutic use*
  • Kaplan-Meier Estimate
  • Kidney / drug effects*
  • Kidney / metabolism
  • Kidney / pathology
  • Kidney Diseases / blood
  • Kidney Diseases / diagnosis
  • Kidney Diseases / drug therapy*
  • Kidney Diseases / genetics*
  • Kidney Diseases / mortality
  • Kidney Failure, Chronic / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Proteinuria / genetics
  • Remission Induction
  • Risk Factors
  • Time Factors
  • Treatment Outcome
  • Triglycerides / blood
  • Young Adult


  • Apolipoprotein E2
  • Biomarkers
  • Hypolipidemic Agents
  • Triglycerides
  • apolipoprotein E2 (Kyoto)
  • Creatinine
  • Fenofibrate

Supplementary concepts

  • Lipoprotein Glomerulopathy