Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome
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, hypok...
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| Format: | Article |
| Language: | English |
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BMC
2024-03-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-024-04641-1 |
| _version_ | 1827321215115591680 |
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| author | Hugo Hernán Abarca-Barriga María Cristina Laso-Salazar Diego Orihuela-Tacuri Jenny Chirinos-Saire Anahí Venero-Nuñez |
| author_facet | Hugo Hernán Abarca-Barriga María Cristina Laso-Salazar Diego Orihuela-Tacuri Jenny Chirinos-Saire Anahí Venero-Nuñez |
| author_sort | Hugo Hernán Abarca-Barriga |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-25T01:02:27Z |
| format | Article |
| id | doaj.art-20d5351d41b24c7cb1a7866292cc8dfd |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-25T01:02:27Z |
| publishDate | 2024-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-20d5351d41b24c7cb1a7866292cc8dfd2024-03-10T12:22:24ZengBMCBMC Pediatrics1471-24312024-03-012411710.1186/s12887-024-04641-1Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndromeHugo Hernán Abarca-Barriga0María Cristina Laso-Salazar1Diego Orihuela-Tacuri2Jenny Chirinos-Saire3Anahí Venero-Nuñez4Instituto de Investigaciones de Ciencias Biomédicas, Universidad Ricardo PalmaEquipo Funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades NeoplásicasServicio de Genética & Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño- BreñaServicio de Genética & Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño- BreñaServicio de Endocrinología, Hospital de Emergencias-EsSaludAbstract 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.https://doi.org/10.1186/s12887-024-04641-1SLC2A2HypophosphatemiaGlycogen storage diseaseRenal tubular acidosisExome sequencing |
| spellingShingle | Hugo Hernán Abarca-Barriga María Cristina Laso-Salazar Diego Orihuela-Tacuri Jenny Chirinos-Saire Anahí Venero-Nuñez Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome BMC Pediatrics SLC2A2 Hypophosphatemia Glycogen storage disease Renal tubular acidosis Exome sequencing |
| title | Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome |
| title_full | Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome |
| title_fullStr | Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome |
| title_full_unstemmed | Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome |
| title_short | Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome |
| title_sort | importance about use of high throughput sequencing in pediatric case report of a patient with fanconi bickel syndrome |
| topic | SLC2A2 Hypophosphatemia Glycogen storage disease Renal tubular acidosis Exome sequencing |
| url | https://doi.org/10.1186/s12887-024-04641-1 |
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