PDF(Pubmed)
Abstract：
BACKGROUND: Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatomegaly, metabolic acidosis, hypophosphatemia, hypokalemia, hyperlactatemia.
RESULTS: Exome sequencing identified the homozygous pathogenic variant NM_000340.2(SLC2A2):c.1093 C > T (p.Arg365Ter), related with Fanconi-Bickel syndrome. He received treatment with bicarbonate, amlodipine, sodium citrate and citric acid solution, enalapril, alendronate and zolendronate, and nutritional management with uncooked cornstarch, resulting in an improvement of one standard deviation in weight and height.
CONCLUSIONS: The importance of knowing the etiology in rare genetic disease is essential, not only to determine individual and familial recurrence risk, but also to establish the treatment and prognosis; in this sense, access to a new genomic technology in low- and middle-income countries is essential to shorten the diagnostic odyssey.
RESULTS: Exome sequencing identified the homozygous pathogenic variant NM_000340.2(SLC2A2):c.1093 C > T (p.Arg365Ter), related with Fanconi-Bickel syndrome. He received treatment with bicarbonate, amlodipine, sodium citrate and citric acid solution, enalapril, alendronate and zolendronate, and nutritional management with uncooked cornstarch, resulting in an improvement of one standard deviation in weight and height.
CONCLUSIONS: The importance of knowing the etiology in rare genetic disease is essential, not only to determine individual and familial recurrence risk, but also to establish the treatment and prognosis; in this sense, access to a new genomic technology in low- and middle-income countries is essential to shorten the diagnostic odyssey.
摘要：
背景：Fanconi-Bickel综合征的特征是糖原储存异常引起的肝肾疾病。它是由于SLC2A2基因的变异而发生的。我们介绍了一名2岁7个月大的男性患者，未能茁壮成长，肝肿大,代谢性酸中毒,低磷酸盐血症,低钾血症,高乳酸血症。
结果：外显子组测序鉴定了纯合致病变体NM_000340.2（SLC2A2）：c.1093C>T（p。Arg365Ter),与Fanconi-Bickel综合征有关.他接受了碳酸氢盐治疗，氨氯地平,柠檬酸钠和柠檬酸溶液，依那普利,阿仑膦酸盐和唑仑膦酸盐，用未经煮熟的玉米淀粉进行营养管理，导致体重和身高的一个标准偏差的改善。
结论：了解罕见遗传病的病因至关重要，不仅要确定个体和家族复发风险，还要确定治疗和预后；从这个意义上说，在低收入和中等收入国家获得新的基因组技术对于缩短诊断之旅至关重要。
结果：外显子组测序鉴定了纯合致病变体NM_000340.2（SLC2A2）：c.1093C>T（p。Arg365Ter),与Fanconi-Bickel综合征有关.他接受了碳酸氢盐治疗，氨氯地平,柠檬酸钠和柠檬酸溶液，依那普利,阿仑膦酸盐和唑仑膦酸盐，用未经煮熟的玉米淀粉进行营养管理，导致体重和身高的一个标准偏差的改善。
结论：了解罕见遗传病的病因至关重要，不仅要确定个体和家族复发风险，还要确定治疗和预后；从这个意义上说，在低收入和中等收入国家获得新的基因组技术对于缩短诊断之旅至关重要。
