Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations

Yılmaz, Bilge; Kör, Deniz; Bulut, Fatma Derya; Yüksel, Bilgin; Karabay-Bayazit, Aysun; Topaloğlu, Ali Kemal; Ceylaner, Gülay; Önenli-Mungan, Neslihan

doi:10.24953/turkjped.2017.04.010

Cited by 12 publications

(5 citation statements)

References 8 publications

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“…In our patient, we use a small dosage of insulin to control postprandial blood sugar and CGMS to monitor for 24 h. The CGMS played an important role not only in diagnosis but also in the prevention of hypoglycemia. ( 28 ) Therefore, the requirement of the use of insulin could be decided with the follow-up and monitoring of these patients and future studies ( 29 ). Besides insulin, other treatments included sodium dihydrogen phosphate and disodium hydrogen phosphate, vitamin D, and potassium citrate.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia

et al. 2022

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Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder. The main symptoms of FBS are hepatomegaly, nephropathy, postprandial hyperglycemia, fasting hypoglycemia, and growth retardation. Hypokalemia is a rare clinical feature in patients with FBS. In this study, we present a neonate suffering from FBS. She presented with hypokalemia, dysglycaemia, glycosuria, hepatomegaly, abnormality of liver function, and brain MRI. Trio whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants. A compound heterozygous mutation (NM_000340.2; p. Trp420*) of SLC2A2 was identified. Here, we report a patient with FBS in a consanguineous family with diabetes, severe hypokalemia, and other typical FBS symptoms. Patients with common clinical features may be difficult to diagnose just by phenotypes in the early stage of life, but WES could be an important tool. We also discuss the use of insulin in patients with FBS and highlight the importance of a continuous glucose monitoring system (CGMS), not only in diagnosis but also to avoid hypoglycemic events.

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Section: Discussionmentioning

confidence: 99%

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia

et al. 2022

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“…Sekiz olgunun ikisinde yaşamın 1. ayında ortaya çıkan klinik bulgulara karşın tanı sırasıyla beş ay ve üç yaşta konulmuştur (5). Sekiz olgu ile yapılmış olan bir diğer çalışmada olguların tanı yaşının dört ay ile 16 yaş arasında değiştiği görülmektedir (6). Literatürde iki ayın altında tanı alan sınırlı olgu bildirilmiş olup, hiperglisemi, glukozüri, belirgin düzeyde artmış ALP klinik bulguların gelişiminden önce ortaya çıkan erken laboratuvar bulgular olarak vurgulanmıştır (7,8).…”

Section: Discussionunclassified

Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in<i>SLC2A2</i> Gene

Çelikboya¹,

Cansever²,

Zübarioğlu³

et al. 2019

Haseki

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“…Firstly, human islets are resistant to streptozotocin (STZ), a β-cell toxin which is transported into the cell via GLUT2 [ 29 , 30 , 131 , 156 ]. Secondly, in humans homozygous GLUT2 mutations manifest in postprandial hyperglycemia but symptoms are not comparable with the severe β-cell failure observed in the Slc2a2 −/− mouse model [ 135 ]. Thirdly, glucose uptake of human β-cells differs from murine β-cells.…”

Section: Gluts In the Pancreasmentioning

confidence: 99%

Glucose transporters in pancreatic islets

Berger

Zdzieblo

2020

Pflugers Arch - Eur J Physiol

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The fine-tuning of glucose uptake mechanisms is rendered by various glucose transporters with distinct transport characteristics. In the pancreatic islet, facilitative diffusion glucose transporters (GLUTs), and sodium-glucose cotransporters (SGLTs) contribute to glucose uptake and represent important components in the glucose-stimulated hormone release from endocrine cells, therefore playing a crucial role in blood glucose homeostasis. This review summarizes the current knowledge about cell type-specific expression profiles as well as proven and putative functions of distinct GLUT and SGLT family members in the human and rodent pancreatic islet and further discusses their possible involvement in onset and progression of diabetes mellitus. In context of GLUTs, we focus on GLUT2, characterizing the main glucose transporter in insulin-secreting β-cells in rodents. In addition, we discuss recent data proposing that other GLUT family members, namely GLUT1 and GLUT3, render this task in humans. Finally, we summarize latest information about SGLT1 and SGLT2 as representatives of the SGLT family that have been reported to be expressed predominantly in the α-cell population with a suggested functional role in the regulation of glucagon release.

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Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations

Cited by 12 publications

References 8 publications

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia

Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in<i>SLC2A2</i> Gene

Glucose transporters in pancreatic islets

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