A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period
Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome has many different identified mutations and it is rarely diagnosed during the neonatal period. Our patient is a two-week old female newborn who was admitted to our hos...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2019-06-01
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| Series: | Journal of Pediatric Research |
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http://jpedres.org/archives/archive-detail/article-preview/a-novel-mutation-in-fanconi-bickel-syndrome-diagno/27907
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| author | Şükran Keskin Gözmen Kıymet Çelik Şebnem Çalkavur Erkin Serdaroğlu |
| author_facet | Şükran Keskin Gözmen Kıymet Çelik Şebnem Çalkavur Erkin Serdaroğlu |
| author_sort | Şükran Keskin Gözmen |
| collection | DOAJ |
| description | Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome has many different identified mutations and it is rarely diagnosed during the neonatal period. Our patient is a two-week old female newborn who was admitted to our hospital with fever and dehydration. Renal Fanconi Syndrome was diagnosed in the presence of polyuria, proteinuria, glycosuria, hyperchloremic metabolic acidosis with normal anion gap and positive urine anion gap, hyperuricemia, hypophosphatemia and an increased excretion of phosphorus in urine. A novel mutation, IVS8 homozygote g.24401-24406del6 in the GLUT2 gene was demonstrated by the Sanger method. The same mutation was detected as heterozygote in her parents. Although most of the affected infants have a consanguineous parentage history in the literature, our patient was born to non-consanguineous parents. Also, according to our knowledge, few FBS patients were diagnosed in the newborn period. Our patient was diagnosed with a novel mutation in her first month of life. |
| first_indexed | 2024-04-10T12:48:08Z |
| format | Article |
| id | doaj.art-22feacc0c7364efe89a7c5fa46f70548 |
| institution | Directory Open Access Journal |
| issn | 2147-9445 2587-2478 |
| language | English |
| last_indexed | 2024-04-10T12:48:08Z |
| publishDate | 2019-06-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Journal of Pediatric Research |
| spelling | doaj.art-22feacc0c7364efe89a7c5fa46f705482023-02-15T16:13:56ZengGalenos YayineviJournal of Pediatric Research2147-94452587-24782019-06-016215515710.4274/jpr.galenos.2018.5856113049054A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal PeriodŞükran Keskin Gözmen0Kıymet Çelik1Şebnem Çalkavur2Erkin Serdaroğlu3 University of Health Sciences, Dr. Behçet Uz Children’s Training and Research Hospital, Clinic of Pediatric Nephrology, İzmir, Turkey University of Health Sciences, Dr. Behçet Uz Children’s Training and Research Hospital, Clinic of Pediatric Neonatology, İzmir, Turkey University of Health Sciences, Dr. Behçet Uz Children’s Training and Research Hospital, Clinic of Pediatric Neonatology, İzmir, Turkey University of Health Sciences, Dr. Behçet Uz Children’s Training and Research Hospital, Clinic of Pediatric Nephrology, İzmir, Turkey Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome has many different identified mutations and it is rarely diagnosed during the neonatal period. Our patient is a two-week old female newborn who was admitted to our hospital with fever and dehydration. Renal Fanconi Syndrome was diagnosed in the presence of polyuria, proteinuria, glycosuria, hyperchloremic metabolic acidosis with normal anion gap and positive urine anion gap, hyperuricemia, hypophosphatemia and an increased excretion of phosphorus in urine. A novel mutation, IVS8 homozygote g.24401-24406del6 in the GLUT2 gene was demonstrated by the Sanger method. The same mutation was detected as heterozygote in her parents. Although most of the affected infants have a consanguineous parentage history in the literature, our patient was born to non-consanguineous parents. Also, according to our knowledge, few FBS patients were diagnosed in the newborn period. Our patient was diagnosed with a novel mutation in her first month of life. http://jpedres.org/archives/archive-detail/article-preview/a-novel-mutation-in-fanconi-bickel-syndrome-diagno/27907 Fanconi Bickel Syndromeglycogen storage disease Type XImutationneonatal period |
| spellingShingle | Şükran Keskin Gözmen Kıymet Çelik Şebnem Çalkavur Erkin Serdaroğlu A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period Journal of Pediatric Research Fanconi Bickel Syndrome glycogen storage disease Type XI mutation neonatal period |
| title | A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period |
| title_full | A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period |
| title_fullStr | A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period |
| title_full_unstemmed | A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period |
| title_short | A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period |
| title_sort | novel mutation in fanconi bickel syndrome diagnosed in the neonatal period |
| topic | Fanconi Bickel Syndrome glycogen storage disease Type XI mutation neonatal period |
| url |
http://jpedres.org/archives/archive-detail/article-preview/a-novel-mutation-in-fanconi-bickel-syndrome-diagno/27907
|
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