糖尿
范科尼综合征
肾葡萄糖重吸收
医学
糖尿病
内分泌学
内科学
重吸收
肾小管病变
儿科
肾
2型糖尿病
作者
Vaishnavi Sivaji,Prasanna Raju,Soundarrajan Marimuthu,Subash Sundar
出处
期刊:Case Reports
[BMJ]
日期:2024-09-01
卷期号:17 (9): e258408-e258408
标识
DOI:10.1136/bcr-2023-258408
摘要
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. The SLC5A2 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 SLC5A2 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 SLC5A2 gene.
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