Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

Abstract

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. The defect in the GLUT 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms secondary to glycogen storage, glucose metabolism and renal tubular dysfunction. Derangement in glucose metabolism is classical with fasting hypoglycemia and post-prandial hyperglycemia. The authors report a 4-year-old boy who presented with failure to thrive, motor delay, protuberant abdomen and was noted to have huge hepatomegaly with glycogen deposition in liver, and renal tubular acidosis. Gene sequencing revealed homozygous mutation, c.1330T > C in SLC2A2 gene, thus confirming the diagnosis of FBS. Only three mutations have been reported from India so far. The primary reason for referral to authors’ hospital was for liver transplantation, but an accurate diagnosis led to avoidance of the major surgery and streamlining of treatment with clinical benefit to the child and family.

Fanconi–Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets

“…However, in recent years, at least four individuals with FBS from neighboring India have also been reported. [11][12][13][14] It is worth noting that two of the four patients were found to be homozygous for mutations previously identified in individuals from other countries (►Table 2). The first patient was a 6-year-old girl seen in the genetics clinic in Vellore who was found to be homozygous for a c.1093C > T nonsense mutation that was previously identified in a boy from Turkey.…”

First case of Fanconi-Bickel syndrome genetically diagnosed in Sri Lanka

“…He had a 'doll like face', mild pallor, hepatomegaly and features of rickets such as frontal bossing, widened wrists and rachitic rosary ( Figure 1). ___________________________________________ 1 Registrar in Paediatrics, 2 Senior Lecturer and Consultant Paediatric Neurologist, 3 Senior Registrar in Paediatrics, Professorial Paediatric Unit, Colombo South Teaching Hospital, Sri Lanka *Correspondence: sinbad.lk@gmail.com https://orcid.org/0000-0003-0065-2845 (Received on 23 June 2017: Accepted after revision on 18 August 2017) The authors declare that there are no conflicts of interest Personal funding was used for the project.…”

“…Fanconi-Bickel syndrome (FBS) was first described in 1949 in a Swiss boy who was followed up over five decades 1 . Less than 200 FBS patients have been reported in the literature [2][3][4][5] . Extensive literature survey did not show any cases of FBS in Sri Lanka.…”

Renal tubular acidosis in pediatrics: A review article

“…37 Liver transplant used in refractory cases of proximal RTA including Fanconi and tyrosenemia. 23,27 Kidney transplant as a definitive treatment for cystenosis. 37 Type 3 RTA Alkali therapy can treat osteopenia and induce normal somatic growth, even after severe stunting, but surprisingly only when given in amounts that sustain full correction of acidosis.…”

“…20 It presents with fasting hypoglycaemia, post-prandial hyperglycaemia, delay in motor function, distended abdomen, unable to gain weight and renal tubular acidosis. 23 B-Inborn error of metabolism including glucose-galactose malabsorption and congenital NBCe1A deficiency, cystinosis and tyrosinemia as example.…”