IMR Press / CEOG / Volume 45 / Issue 1 / DOI: 10.12891/ceog4100.2018

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 46 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Open Access Case Report
Successful pregnancy and vaginal birth in a patient with Fanconi-Bickel Syndrome – case report and literature review
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1 Obstetrics and Gynecological Department, Santa Chiara Hospital, Trento, Italy
Clin. Exp. Obstet. Gynecol. 2018, 45(1), 138–140; https://doi.org/10.12891/ceog4100.2018
Published: 10 February 2018
Abstract

Fanconi-Bickel Syndrome (FBS) is an autosomal recessive disorder caused by mutations in SLC2A2 gene, encoding a facilitative glucose transporting membrane protein. Its phenotype can vary, and is characterized by short stature, hepatomegaly, fasting hypoglycemia, impaired glucose tolerance, hyperlipidemia, and tubular nephropathy. So far, over 100 cases in the world have been reported, and only three cases of childbearing. The authors describe a case of a 39-year-old woman affected by FBS with a spontaneous pregnancy, ending in vaginal birth at full term. In the management of a pregnant patient, possible complications that can be faced include kidney disease, urinary tract infections, gestational diabetes, polyhydramnios, cholestasis, and iatrogenic preterm birth; nevertheless, pregnancy course can be uneventful and spontaneous vaginal birth at term is feasible. This fourth report extends our knowledge about the reproductive options in this rare metabolic disease, and can be useful both for patient management and counseling.
Keywords
Fanconi-Bickel Syndrome
Pregnancy
Glycogen storage disease
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