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Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence
Erik H Strøm1, Ståle Sund, Morten Reier-Nilsen
1Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway. erstrom@rikshospitalet.no
Insights
Familial lecithin:cholesterol acyltransferase (LCAT) deficiency, a rare metabolic disorder, causes lipid deposition. This case highlights characteristic kidney changes and successful transplantation in a patient with LCAT deficiency.
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare inherited metabolic disorder.
- It is characterized by impaired cholesterol esterification, leading to lipid deposition in various organs, including the kidneys.
Observation:
- A male patient presented with hypertension and proteinuria, indicative of kidney dysfunction.
- Renal biopsy showed glomerular abnormalities with unique thrombus-like deposits, suggesting LCAT deficiency.
- Genetic analysis revealed compound heterozygosity for two LCAT gene mutations.
Findings:
- The patient underwent kidney transplantation from his father.
- LCAT deficiency-related lesions were documented in explanted native kidneys and post-transplant biopsies at multiple time points.
- Distinctive ultrastructural findings aid in diagnosing LCAT deficiency.
Implications:
- This case underscores the characteristic renal pathology associated with familial LCAT deficiency.
- Early suspicion based on ultrastructural morphology is crucial for diagnosis.
- Successful kidney transplantation offers a therapeutic option for managing LCAT deficiency-related kidney disease.
Abstract:
Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare metabolic disease with lipid deposition in several organs. The authors report a man with hypertension and proteinuria. Renal biopsy revealed glomerular changes, including peculiar thrombus-like deposits, consistent with LCAT deficiency. He was found to be compound heterozygous for two mutations of the LCAT gene. He received a kidney graft from his father. The authors also describe LCAT deficiency-related lesions in the explanted native kidneys and in biopsies at 2 days, 6 weeks, and 1 year after transplantation. The morphology of this disease is characteristic, and the diagnosis should be suspected from the ultrastructural findings.
