Multidisciplinary Management and Individualized Care in Pregnancy with Fanconi-Bickel Syndrome: A Case Report and Review of the Literature

Fanconi–Bickel syndrome (FBS) is a rare genetic disorder characterized by impaired glucose and galactose transport due to mutations in the SLC2A2 gene. It presents a broad phenotypic spectrum with initial nonspecific symptoms, often leading to missing or delayed diagnosis. The most common manifestations include failure to thrive, hepatomegaly, fasting hypoglycemia, postprandial hyperglycemia, significant glycosuria, proximal tubular nephropathy, osteoporosis and nutritional rickets. This study presents a rare case of pregnancy with FBS complicated with intrahepatic cholestasis and postprandial hyperglycemia, highlighting the challenges and complexities involved in managing such a high-risk pregnancy. A multidisciplinary team, including specialists in hepatology, nephrology, endocrinology, maternal-fetal medicine, and neonatology, collaborated to ensure optimal maternal and fetal outcomes. Through meticulous monitoring and individualized treatment strategies, pregnancy was successfully carried out at 37 weeks of gestation, culminating in favorable maternal and neonatal outcomes. All previously published cases of FBS were identified and compared to our case for a comprehensive analysis. This case highlights the critical role of specialized, multidisciplinary care in managing rare metabolic disorders during high-risk pregnancies and expands our current understanding of FBS treatment approaches and the management of specific manifestations. This underscores the need for a systematic approach to patient evaluation and management, ensuring timely identification of complications and tailored interventions to optimize maternal and fetal outcomes.