PREEMPTIVE KIDNEY TRANSPLANTATION IN A PATIENT WITH COMPOUND HETEROZYGOSITY IN THE LCAT (LECITHIN-CHOLESTEROL ACYLTRANSFERASE) GENE: CASE REPORT OF FAMILIAL LCAT DEFICIENCY IN PIAUÍ – BRAZIL

Abstract

Familial LCAT (Lecithin-Cholesterol Acyltransferase) deficiency is a rare disease caused by mutations in the LCAT gene. The deficiency of this enzyme promotes the deposition of lipids in organs, such as the cornea and kidneys, triggering the emergence of systemic morbidities of adverse prognosis. The authors report a male patient who, at 42 years of age, was diagnosed with nephrotic syndrome due to generalized edema and massive proteinuria. The patient's clinical picture associated with severe bilateral corneal opacity suggested a diagnostic hypothesis of familial LCAT deficiency (FLD), confirmed by genetic testing that detected compound heterozygosity in the LCAT gene (c.803G>A p.R268H and c.304A>T p.N102Y). After 12 years of conservative treatment, the patient underwent preemptive kidney transplantation from a deceased donor. At the 5-year follow-up after kidney transplantation, we documented that this was a favorable therapeutic intervention, with regression of proteinuria, control of arterial hypertension, anemia, and metabolic alterations.