A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period

Apply

A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period

Journal Title: The Journal of Pediatric Research - Year 2019, Vol 6, Issue 2

Abstract

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.

Authors and Affiliations

Şükran Keskin Gözmen, Kıymet Çelik, Şebnem Çalkavur, Erkin Serdaroğlu

Keywords

Neonatal Outcomes of Immigrant and Turkish Preterm Infants Treated in a Level-3 Neonatal Intensive Care Unit: A Retrospective Study

Aim: To evaluate the neonatal outcomes of immigrant preterm babies and compare them with Turkish preterm babies in a Neonatal Intensive Care Unit (NICU). Materials and Methods: The present study was conducted using a re...

EP ID EP49053
DOI 10.4274/jpr.galenos.2018.58561
Views 332
Downloads 0