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Open Access 01-12-2024 | Acidosis | Case Report

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

Authors: Hugo Hernán Abarca-Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez

Published in: BMC Pediatrics | Issue 1/2024

Abstract

Background

Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatomegaly, metabolic acidosis, hypophosphatemia, hypokalemia, hyperlactatemia.

Results

Exome sequencing identified the homozygous pathogenic variant NM_000340.2(SLC2A2):c.1093 C > T (p.Arg365Ter), related with Fanconi-Bickel syndrome. He received treatment with bicarbonate, amlodipine, sodium citrate and citric acid solution, enalapril, alendronate and zolendronate, and nutritional management with uncooked cornstarch, resulting in an improvement of one standard deviation in weight and height.

Conclusions

The importance of knowing the 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 diagnostic odyssey.

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Title: Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome
Authors: Hugo Hernán Abarca-Barriga
María Cristina Laso-Salazar
Diego Orihuela-Tacuri
Jenny Chirinos-Saire
Anahí Venero-Nuñez
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Acidosis
Hypoglycemia
Published in: BMC Pediatrics / Issue 1/2024
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-024-04641-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Results

Conclusions

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