Litzel Martin, Caridi Gianluca, Lugani Francesca, Campagnoli Monica, Minchiotti Lorenzo, Fischli Stefan
Division of Endocrinology, Diabetes and Clinical Nutrition, Luzerner Kantonsspital, Luzern 6000, Switzerland.
Laboratory of Molecular Nephrology, Istituto Giannina Gaslini, IRCCS, Genoa 16147, Italy.
Case Rep Endocrinol. 2020 Feb 27;2020:8452564. doi: 10.1155/2020/8452564. eCollection 2020.
In congenital analbuminemia (CAA), mutations in the albumin gene result in a severe deficiency or absence of plasma albumin. Only about 90 cases have been reported to date, but the specific features of glucose and lipid metabolism in congenital analbuminemia have only been studied in a rat model of analbuminemia. We report the case of a female patient hospitalized for a streptococcal skin infection who showed recurrent hypoglycemia. A diagnosis of CAA was confirmed by mutation analysis and by the detection of a single base variation in the gene. Hypoglycemia was first documented after a fasting period during acute illness. Recurrent hypoglycemia persisted despite good general condition and normal nutrition during antimicrobial therapy with moxifloxacin. Several contributing factors causing this hypoglycemia can be discussed. Individuals with CAA are prone to adverse drug effects caused by changes in drug-protein binding properties. It is unclear if specific changes of glucose and lipid metabolism in CAA constitute a risk factor for hypoglycemia.
在先天性无白蛋白血症(CAA)中,白蛋白基因突变导致血浆白蛋白严重缺乏或缺失。迄今为止,仅报道了约90例病例,但先天性无白蛋白血症中葡萄糖和脂质代谢的具体特征仅在无白蛋白血症大鼠模型中进行过研究。我们报告了一例因链球菌皮肤感染住院的女性患者,该患者出现反复低血糖。通过突变分析和检测该基因中的单碱基变异确诊为CAA。低血糖首次记录于急性疾病期间的禁食期后。尽管在使用莫西沙星进行抗菌治疗期间患者一般状况良好且营养正常,但反复低血糖仍持续存在。可以讨论导致这种低血糖的几个促成因素。CAA患者容易因药物 - 蛋白质结合特性的改变而产生药物不良反应。尚不清楚CAA中葡萄糖和脂质代谢的特定变化是否构成低血糖的危险因素。