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Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report
Yunsi Li1, Jin Chen, Yurong Zou
1Renal Department and Institute of Nephrology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Clinical Research Center for Kidney Diseases, Chengdu, China.
Insights
Lipoprotein glomerulopathy (LPG) can be caused by compound heterozygous mutations in the apolipoprotein E (APOE) gene. This case highlights the effectiveness of lipid-lowering therapy and renin-angiotensin system inhibitors (RASIs) for LPG management.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Lipoprotein glomerulopathy (LPG) is a rare kidney disease characterized by lipoprotein thrombi in glomerular capillaries, leading to proteinuria and renal failure.
- Mutations in the apolipoprotein E (APOE) gene are the primary cause of LPG pathogenesis.
- Understanding the genetic basis of LPG is crucial for diagnosis and treatment.
Observation:
- A 28-year-old man presented with severe proteinuria and hyperlipidemia, unresponsive to initial immunosuppressive therapy.
- Renal biopsy confirmed LPG, and genetic testing revealed compound heterozygous mutations in the APOE gene.
- The patient inherited one APOE mutation from each parent, who had normal kidney function.
Findings:
- Treatment with atorvastatin and irbesartan significantly reduced the patient's lipidaemia and proteinuria.
- Compound heterozygous APOE mutations, inherited from both parents, were identified as the cause of LPG in this case.
- This contrasts with typical LPG cases caused by single APOE mutations.
Implications:
- Intensive lipid-lowering therapy combined with renin-angiotensin system inhibitors (RASIs) shows efficacy in managing LPG.
- Early diagnosis through renal biopsy and genetic testing can prevent unnecessary glucocorticoid and immunosuppressant use.
- This case expands the understanding of APOE mutations' role in LPG pathogenesis.
Rationale:
Lipoprotein glomerulopathy (LPG) is a rare glomerular disease characterized by the deposition of lipoprotein thrombi in glomerular capillaries. The disease is characterized by proteinuria, progressive renal failure, and characteristic lipoprotein thrombosis in glomerular capillaries. Rare mutations in the apolipoprotein E (APOE) gene mainly contribute to disease pathogenesis.
Patient Concerns:
A 28-year-old man presented with severe proteinuria and hyperlipidemia. The patient was treated with a full dose of prednisone for 2 months and then combined with leflunomide 20 mg daily for 20 days; however, his edema continued to worsen.
Diagnosis:
The patient was diagnosed LPG by laboratory examination and renal biopsy.
Interventions:
The patient was treated with atorvastatin (20 mg) combined with irbesartan (75 mg) once a day.
Outcomes:
The patient's lipidaemia and proteinuria were significantly reduced. Genetic testing showed that the patient carried compound heterozygous mutations in APOE. The APOE gene was inherited from her mother and father. Parents with a heterogeneous mutation had normal kidney function without proteinuria.
Lessons:
Usually, a single mutation in APOE can lead to the pathogenesis of LPG. This case shows that LPG could result from compound heterogeneous mutations of the APOE gene inherited from his mother and father. Intensive lipid-lowering combined with RASIs is effective in patients with LPG. Early renal biopsy and genetic mutation detection can avoid the unnecessary use of glucocorticoids and immunosuppressants.
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