A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria.

IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI:10.1530/EDM-24-0065
Saohoine Inthasot, Julien Vanderhulst, Peter Janssens, Sien Van Daele, Evelien Van Hoof, Cyrielle Kint, Laura Iconaru, Jeroen de Filette
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Abstract

Summary: Familial renal glucosuria (FRG) is a rare renal tubular disorder characterized by increased urinary glucose excretion despite normoglycemia. It is most commonly caused by pathogenic variants in the solute carrier family V member 2 (SLC5A2) gene. This gene encodes the sodium-glucose cotransporter 2, crucial for glucose reabsorption. We report the case of a 44-year-old male referred to the endocrinology outpatient clinic for unexplained glucosuria despite well-controlled diabetes mellitus with metformin and gliclazide therapy. His main complaints were nocturia and an unintentional 5 kg weight loss in 1 year. A 24-h urinary collection revealed overt glucosuria (23.3 g/1.73 m2/24 h), generalized aminoaciduria, and increased uric acid excretion (fractional excretion: 6.4%). Whole-exome sequencing revealed a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene. Specific analysis of the maturity-onset diabetes of the young type (MODY) gene panel showed no pathogenic variants in the hepatocyte nuclear factor-1A (HNF-1A; MODY3) nor in other MODY-associated genes. We assume that the association of glucosuria, aminoaciduria, and increased uric acid excretion can be explained by the combination of diabetes and the likely pathogenic SLC5A2 variant in this patient. In conclusion, we describe a well-controlled diabetic patient with FRG, associated with a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene.

Learning points: The diagnosis of a renal tubular disorder should be considered in patients with unexplained glucosuria and diabetes mellitus, especially if the latter is well controlled. FRG usually presents with glucosuria but may be associated with generalized aminoaciduria and hyperuricosuria. Genetic analysis should be considered in patients with young-onset diabetes and glucosuria, particularly with a positive family history.

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一名患有葡萄糖尿症和氨基酸尿症的糖尿病患者体内可能致病的新型杂合子 SLC5A2 变异体。
摘要家族性肾性葡萄糖尿症(FRG)是一种罕见的肾小管疾病,其特点是尽管血糖正常,但尿糖排泄增加。它最常见的病因是溶质运载家族 V 成员 2(SLC5A2)基因的致病变异。该基因编码钠-葡萄糖共转运体 2,对葡萄糖的重吸收至关重要。我们报告了一例 44 岁男性患者的病例,他因不明原因的葡萄糖尿而被转诊至内分泌科门诊,尽管他使用二甲双胍和格列齐特治疗糖尿病,病情控制良好。他的主要主诉是夜尿和一年内体重意外下降 5 公斤。24 小时尿液收集结果显示,他有明显的葡萄糖尿(23.3 克/1.73 平方米/24 小时)、全身性氨基酸尿和尿酸排泄增加(排泄分数:6.4%)。全外显子组测序发现,SLC5A2基因中存在一个可能致病的新型杂合c.469-1G>A变异。对成熟-发病型年轻糖尿病(MODY)基因面板的具体分析显示,肝细胞核因子-1A(HNF-1A;MODY3)和其他 MODY 相关基因中没有致病变异。我们认为,该患者出现葡萄糖尿、氨基酸尿和尿酸排泄增加的原因可能是糖尿病和可能的致病性 SLC5A2 变体共同作用的结果。总之,我们描述了一名病情控制良好的 FRG 糖尿病患者,该患者与 SLC5A2 基因中的一个新型杂合子 c.469-1G>A 可能致病变体有关:学习要点:对于不明原因的葡萄糖尿和糖尿病患者,尤其是糖尿病控制良好的患者,应考虑肾小管疾病的诊断。FRG通常表现为葡萄糖尿,但也可能伴有全身性氨基酸尿和高尿酸尿。对于年轻发病的糖尿病和糖尿患者,尤其是有阳性家族史的患者,应考虑进行遗传分析。
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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
142
审稿时长
9 weeks
期刊介绍: Endocrinology, Diabetes & Metabolism Case Reports publishes case reports on common and rare conditions in all areas of clinical endocrinology, diabetes and metabolism. Articles should include clear learning points which readers can use to inform medical education or clinical practice. The types of cases of interest to Endocrinology, Diabetes & Metabolism Case Reports include: -Insight into disease pathogenesis or mechanism of therapy - Novel diagnostic procedure - Novel treatment - Unique/unexpected symptoms or presentations of a disease - New disease or syndrome: presentations/diagnosis/management - Unusual effects of medical treatment - Error in diagnosis/pitfalls and caveats
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