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Clinical and Experimental Obstetrics & Gynecology  2018, Vol. 45 Issue (1): 138-140    DOI: 10.12891/ceog4100.2018
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Successful pregnancy and vaginal birth in a patient with Fanconi-Bickel Syndrome – case report and literature review
M. Carli1, *(), P. Ravagni Probizer1, S. Tateo1
1 Obstetrics and Gynecological Department, Santa Chiara Hospital, Trento, Italy
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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.
Key words:  Fanconi-Bickel Syndrome      Pregnancy      Glycogen storage disease     
Published:  10 February 2018     
*Corresponding Author(s):  M. CARLI     E-mail:  michela.carli@apss.tn.it

Cite this article: 

M. Carli, P. Ravagni Probizer, S. Tateo. Successful pregnancy and vaginal birth in a patient with Fanconi-Bickel Syndrome – case report and literature review. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(1): 138-140.

URL: 

https://ceog.imrpress.com/EN/10.12891/ceog4100.2018     OR     https://ceog.imrpress.com/EN/Y2018/V45/I1/138

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