Successful pregnancy and vaginal birth in a patient with Fanconi-Bickel Syndrome – case report and literature review

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.