Resumo

BERNAL-BARBOSA, ANDRÉS EDUARDO; LOPEZ-POSADA, JÉSSICA ANDREA  e  PASTUZAN, HAROLD SEBASTIÁN CASTILLO-. Focal segmental glomerulosclerosis in a patient with congenital lecithin-cholesterol acyltransferase deficiency. Acta Med Colomb [online]. 2022, vol.47, n.4, pp.47-49.  Epub 28-Maio-2023. ISSN 0120-2448.  https://doi.org/10.36104/amc.2022.2558.

Lecithin-cholesterol acyltransferase deficiency is a rare genetic disease caused by a mutation of the gene coding for the lecithin-cholesterol acyltransferase protein, and mainly affects low density lipoprotein metabolism. It typically manifests with diffuse corneal opacities, normocytic anemia and kidney disease. We present the case of a 30-year-old man with chronic kidney disease and nephrotic syndrome. His initial kidney biopsy showed focal segmental glomerulosclerosis, thought to be primary, a disease which was refractory to multiple immunosuppressive schemes. Manifestations such as anemia, splenomegaly, corneal opacities and an association with low high-density lipoproteins alerted to the possibility of glomerular damage secondary to lecithin-cholesterol acyltransferase enzyme deficiency, which was confirmed through genetic sequenc ing. Due to the low incidence of the disease, diagnosis is a clinical challenge. The signs and symptoms tend to be interpreted as isolated events, which significantly delays its confirmation. Understanding this entity and the clinical exercise needed to arrive at its diagnosis will serve as a reference, resulting in the suspicion and reporting of cases in the future. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2558).

Palavras-chave : lecithin-cholesterol acyltransferase deficiency; focal segmental glomerulosclerosis; chronic kidney disease; anemia; corneal opacities.

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