Pregnancy-associated polyuria in familial renal glycosuria.
Pregnancy-associated polyuria in familial renal glycosuria.
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家族性肾糖尿症中妊娠相关的多尿症。
DOI：
10.1053/j.ajkd.2013.05.018
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Mount,DavidB
中科院分区：
文献类型：
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作者：
Toka,HakanR;Yang,Jun;Zera,ChloeA;Duffield,JeremyS;Pollak,MartinR;Mount,DavidB
一名孕妇在妊娠第 28 周出现意识丧失和严重多尿。进一步的表征揭示了由于大量糖尿而没有高血糖的渗透性利尿。产后糖尿大幅减少，从每天约 100 克/1.73 平方米减少至约 30 克/1.73 平方米。编码肾葡萄糖转运蛋白SGLT2的SLC5A2基因的DNA测序分析显示纯合移码突变（在氨基酸168处的谷氨酰胺之后发生并导致氨基酸186处的蛋白质提前终止），诊断家族性肾糖尿症。患有家族性肾性糖尿症的孕妇在怀孕期间可能因糖尿量增加而面临严重多尿的风险。这些发现对于 SGLT2 抑制剂在临床实践中的使用也有影响。
A pregnant woman presented at gestational week 28 with loss of consciousness and profound polyuria. Further characterization revealed osmotic diuresis due to massive glycosuria without hyperglycemia. Glycosuria reduced substantially postpartum, from ∼100 to ∼30 g/1.73 m2per day. DNA sequencing analysis of theSLC5A2gene encoding the renal glucose transporter SGLT2 showed a homozygous frame-shift mutation (occurring after the glutamine at amino acid 168 and leading to premature termination of the protein at amino acid 186) diagnostic of familial renal glycosuria. Pregnant women with familial renal glycosuria can be at risk of profound polyuria during pregnancy due to the associated increase in glycosuria. These findings also have implications for the use of SGLT2 inhibitors in clinical practice.