Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects

2.50
Hdl Handle:
http://hdl.handle.net/11287/620548
Title:
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects
Authors:
Khandelwal, P.; Sinha, A. K.; Jain, V.; Houghton, Jayne A. L.; Hari, P.; Bagga, A.
Abstract:
Fanconi–Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi–Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6 months of age. A male sibling, who expired at 4 months, also had hepatomegaly and growth retardation. The third sibling had polyuria, glucosuria and mild proteinuria on day 3 of life. Hyperglycemia was detected 2 weeks later, which required therapy with insulin for 3 months. Mild metabolic acidosis was present at 2 weeks; hypercalciuria, phosphaturia and aminoaciduria were seen at 6 months. Sanger sequencing showed a homozygous missense mutation in SLC2A2 (exon 7, c.952G > A), causing glycine to arginine substitution; both parents were heterozygous carriers. Patients with SLC2A2 mutations may present either with isolated neonatal diabetes or with hepatomegaly and the renal Fanconi syndrome. Fanconi–Bickel syndrome shows phenotypic heterogeneity and may manifest early with subtle or atypical features, mandating a high index of suspicion.
Citation:
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects 2017 CEN Case Reports
Publisher:
Springer
Journal:
CEN Case Reports
Issue Date:
8-Nov-2017
URI:
http://hdl.handle.net/11287/620548
DOI:
10.1007/s13730-017-0278-x
Additional Links:
http://link.springer.com/10.1007/s13730-017-0278-x
Type:
Journal Article
Language:
en
ISSN:
2192-4449
Appears in Collections:
Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorKhandelwal, P.en
dc.contributor.authorSinha, A. K.en
dc.contributor.authorJain, V.en
dc.contributor.authorHoughton, Jayne A. L.en
dc.contributor.authorHari, P.en
dc.contributor.authorBagga, A.en
dc.date.accessioned2017-11-22T12:50:32Z-
dc.date.available2017-11-22T12:50:32Z-
dc.date.issued2017-11-08-
dc.identifier.citationFanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects 2017 CEN Case Reportsen
dc.identifier.issn2192-4449-
dc.identifier.doi10.1007/s13730-017-0278-x-
dc.identifier.urihttp://hdl.handle.net/11287/620548-
dc.description.abstractFanconi–Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi–Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6 months of age. A male sibling, who expired at 4 months, also had hepatomegaly and growth retardation. The third sibling had polyuria, glucosuria and mild proteinuria on day 3 of life. Hyperglycemia was detected 2 weeks later, which required therapy with insulin for 3 months. Mild metabolic acidosis was present at 2 weeks; hypercalciuria, phosphaturia and aminoaciduria were seen at 6 months. Sanger sequencing showed a homozygous missense mutation in SLC2A2 (exon 7, c.952G > A), causing glycine to arginine substitution; both parents were heterozygous carriers. Patients with SLC2A2 mutations may present either with isolated neonatal diabetes or with hepatomegaly and the renal Fanconi syndrome. Fanconi–Bickel syndrome shows phenotypic heterogeneity and may manifest early with subtle or atypical features, mandating a high index of suspicion.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttp://link.springer.com/10.1007/s13730-017-0278-xen
dc.rightsArchived with thanks to CEN Case Reportsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleFanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defectsen
dc.typeJournal Articleen
dc.identifier.journalCEN Case Reportsen
dc.type.versionPublisheden
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