Paediatrics, SRM Medical College Hospital and Research Centre, Kancheepuram, Tamil Nadu, India
Paediatrics, SRM Medical College Hospital and Research Centre, Kancheepuram, Tamil Nadu, India.
BMJ Case Rep. 2024 Sep 10;17(9):e258408. doi: 10.1136/bcr-2023-258408.
Glycosuria can be isolated or it can be associated with other tubulopathies like proximal renal tubular acidosis, Fanconi syndrome and endocrine conditions like diabetes mellitus. gene codes for the SGLT2 transporter, which is responsible for glucose reabsorption in the proximal tubule. Previously reported cases show that mutation in this gene is associated with intellectual disability, seizure disorder and renin and angiotensin system dysfunction. In his early childhood, a male child displayed persistently high urine glucose levels. We ruled out diabetes mellitus and other tubulopathies before diagnosing the child with familial renal glycosuria, with a novel mutation in the gene, and screened family members for the same condition. Child's father was found to have isolated renal glycosuria and tested positive for mutation in the gene.
糖尿可以是孤立存在的，也可以与其他肾小管疾病相关，如近端肾小管性酸中毒、范可尼综合征，以及糖尿病等内分泌疾病。SGLT2 基因编码 SGLT2 转运蛋白，该蛋白负责近端肾小管的葡萄糖重吸收。先前的报道显示，该基因突变与智力障碍、癫痫发作以及肾素-血管紧张素系统功能障碍有关。在这名男童的幼儿期，其尿液中的葡萄糖水平持续升高。我们在诊断该儿童为家族性肾性糖尿之前，已经排除了糖尿病和其他肾小管疾病，其致病原因为 SGLT2 基因突变，我们还对家庭成员进行了相同疾病的筛查。结果发现，患儿的父亲存在孤立性肾性糖尿，且 SGLT2 基因突变检测结果为阳性。
