Importance about use of high-throughput sequencing in pediatric: case report a patient with Fanconi-Bickel syndrome

Abstract

Abstract Background Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous storage of glycogen. It occurs due to variants in SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatomegaly, metabolic acidosis, hypophosphatemia, hypokalemia, hyperlactatemia. Results Whole exome sequencing identified the pathogenic variant NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter), related with Fanconi-Bickel syndrome. He received treatment with bicarbonate, amlodipine, Schol´s solution, enalapril, alendronate and zolendronate, and nutritional management with starch, with which an improvement in weight and height was achieved by one standard deviation. Conclusions The importance of to know etiology in rare genetic disease is essential, not only to determine individual and familial recurrence risk, but also to establish the treatment and prognosis; in this sense, access to a new genomic technology in low- and middle-income countries is essential to shorten the diagnosis odyssey.