Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: Renal Lesions with Early Graft Recurrence

作者：Strom Erik H^*; Sund Stale; Reier Nilsen Morten; Dorje Christina; Leren Trond P

来源：Ultrastructural Pathology, 2011, 35(3): 139-145.

DOI：10.3109/01913123.2010.551578

• Kidney
• LCAT disease
• Lecithin:cholesterol acyltransferase deficiency
• Nephrotic syndrome
• Renal transplant
• Ultrastructure

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.

• 出版日期2011-5