Case Reports
Renal findings of partial Lecithin Cholesterol Acyltransferase (LCAT) deficiency: an atypical presentation of an extremely rare cause of nephrotic syndrome in childhood
Authors:
L. J. De Silva ,
University of Colombo, LK
About L. J.
Department of Pathology, Faculty of Medicine
T. Damayanthi,
University of Colombo, LK
About T.
Department of Pathology, Faculty of Medicine
S. Gunaratne,
Lady Ridgeway Hospital for Children, Colombo, LK
About S.
Department of Pathology
M. V. C. De Silva
Lady Ridgeway Hospital for Children, Colombo, LK
About M. V. C.
Department of Pathology
Abstract
Introduction: Lecithin Cholesterol Acyltransferase (LCAT) is a major enzyme in the cholesterol metabolism pathway. LCAT deficiency (LCATD) is a rare genetic disorder characterized by nephrotic range proteinuria, anaemia and corneal opacities. Two major syndromes, i.e., familial LCATD and partial LACTD, are now considered as one disease spectrum and intermediate phenotypes are not uncommon. This case report highlights the renal findings of two siblings, with genetically confirmed partial LCATD in the elder child, and atypical clinical presentations.
Case report: The two patients were the second and third-born children in a family with second-degree consanguinity. The elder, a six-year-old boy, presented with steroid-resistant nephrotic range proteinuria and hypercholesterolemia at the age of two years, and genetic testing confirmed partial LCATD. He progressed to develop end-stage renal failure and is currently on haemodialysis. His two-year-old sister presented with similar symptoms. Renal biopsies of both showed mostly viable glomeruli and a few partially sclerosed glomeruli. The mesangial matrix was expanded with cells containing pale eosinophilic bubbly cytoplasm. Capillary lumina were obliterated by enlarged mesangial cells in the worst affected glomeruli. The basement membranes were irregular and wrinkled, and the silver stain highlighted their bubbly appearance. Many tubules and some vascular endothelial cells showed cytoplasmic vacuolations. Immunofluorescence was negative for IgA, IgM, IgG and C3. Both patients are being followed up for visual impairment, although the characteristic corneal opacification is not yet established.
Discussion and conclusion: Renal manifestations are a major cause of morbidity in congenital LCATD. The renal findings of LCATD are similar to the late-stage of membranous glomerulopathy, hepatic nephropathy, Alagille syndrome and Nail-patella syndrome. Correlation with clinical, serological, histological, immunohistochemical findings, and electron microscopy if available, is important to arrive at a diagnosis.
How to Cite:
De Silva, L.J., Damayanthi, T., Gunaratne, S. and De Silva, M.V.C., 2022. Renal findings of partial Lecithin Cholesterol Acyltransferase (LCAT) deficiency: an atypical presentation of an extremely rare cause of nephrotic syndrome in childhood. Journal of Diagnostic Pathology, 17(1), pp.18–25. DOI: http://doi.org/10.4038/jdp.v17i1.7816
Published on
31 Dec 2022.
Peer Reviewed
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