A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia
一种新的SLC5A2基因杂合突变导致严重的糖尿、轻度的生长障碍和亚临床低血糖
Corresponding Author
Dimitrios T. Papadimitriou
Department of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Athens, Greece
Endocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, University of Athens, Athens, Greece
Correspondence
Dimitrios T. Papadimitriou, 58, av. Kifisias, 15125 Marousi, Athens, Greece.
Email: [email protected]
Search for more papers by this authorEmmanouil Manolakos
Access to Genome-ATG, Athens-Thessaloniki, Greece
Search for more papers by this authorEleni Dermitzaki
Department of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Athens, Greece
Search for more papers by this authorIoannis Papoulidis
Endocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, University of Athens, Athens, Greece
Search for more papers by this authorGeorges Zoupanos
Department of Pediatric Urology, Athens Medical Center, Athens, Greece
Search for more papers by this authorAldesia Provenzano
Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
Search for more papers by this authorGeorge Mastorakos
Endocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, University of Athens, Athens, Greece
Search for more papers by this authorCorresponding Author
Dimitrios T. Papadimitriou
Department of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Athens, Greece
Endocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, University of Athens, Athens, Greece
Correspondence
Dimitrios T. Papadimitriou, 58, av. Kifisias, 15125 Marousi, Athens, Greece.
Email: [email protected]
Search for more papers by this authorEmmanouil Manolakos
Access to Genome-ATG, Athens-Thessaloniki, Greece
Search for more papers by this authorEleni Dermitzaki
Department of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Athens, Greece
Search for more papers by this authorIoannis Papoulidis
Endocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, University of Athens, Athens, Greece
Search for more papers by this authorGeorges Zoupanos
Department of Pediatric Urology, Athens Medical Center, Athens, Greece
Search for more papers by this authorAldesia Provenzano
Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
Search for more papers by this authorGeorge Mastorakos
Endocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, University of Athens, Athens, Greece
Search for more papers by this authorGraphical Abstract
Highlights
- A novel heterozygous mutation in the SLC5A2 gene in a 2-year-old girl with severe asymptomatic glycosuria, mild failure to thrive, and subclinical hypoglycemia: Continuous glucose monitoring identified 14% hypoglycemic excursions (< 70 mg/dl), reduced at 1% with 1 g/Kg uncooked cornstarch at bed-time milk and eliminated (0%) adjusting the dose at 1.5 g/Kg, as shown by Flash technology.
REFERENCES
- 1Rieg T, Vallon V. Development of SGLT1 and SGLT2 inhibitors. Diabetologia. 2018; 61(10): 2079-2086. https://doi.org/10.1007/s00125-018-4654-7.
- 2Ottosson-Laakso E, Tuomi T, Forsén B, et al. Influence of familial renal glycosuria due to mutations in the SLC5A2 gene on changes in glucose tolerance over time. PLoS One. 2016; 11(1):e0146114. https://doi.org/10.1371/journal.pone.0146114.
- 3LEE YW. Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene. Exp Ther Med. 2013; 6(6): 1532-1534. https://doi.org/10.3892/etm.2013.1326.
- 4Calado J, Loeffler J, Sakallioglu O, et al. Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. Kidney Int. 2006; 69(5): 852-855. https://doi.org/10.1038/sj.ki.5000194.
- 5Yu L, Hou P, Liu GP, Zhang H. Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. Exp Ther Med. 2016; 12(2): 649-652. https://doi.org/10.3892/etm.2016.3388.
- 6Li S, Yang Y, Huang L, Kong M, Yang Z. A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature. Mol Med Rep. 2019; 19(5): 4364-4376. https://doi.org/10.3892/mmr.2019.10110.
- 7Fishman B, Shlomai G, Twig G, et al. Renal glucosuria is associated with lower body weight and lower rates of elevated systolic blood pressure: results of a nationwide cross-sectional study of 2.5 million adolescents. Cardiovasc Diabetol. 2019; 18(1): 124.
- 8Sada K, Hidaka S, Imaishi N, et al. Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium–glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene. J Diabetes Investig. 2020; 11(3): 573-577. https://doi.org/10.1111/jdi.13157.
- 9Wickström R, Skiöld B, Petersson G, Stephansson O, Altman M. Moderate neonatal hypoglycemia and adverse neurological development at 2-6 years of age. Eur J Epidemiol. 2018; 33(10): 1011-1020. https://doi.org/10.1007/s10654-018-0425-5.
- 10Darvish H, Azcona LJ, Tafakhori A, et al. Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes. Sci Rep. 2020; 10(1): 968.
- 11Hershey T, Perantie DC, Warren SL, Zimmerman EC, Sadler M, White NH. Frequency and Timing of Severe Hypoglycemia Affects Spatial Memory in Children With Type 1 Diabetes. Diabetes Care. 2005; 28(10): 2372–2377. https://doi.org/10.2337/diacare.28.10.2372.
- 12Languren G, Montiel T, Massieu L. Neuronal damage and cognitive impairment associated with hypoglycemia: an integrated view. Neurochem Int. 2013; 63: 331-343. https://doi.org/10.1016/j.neuint.2013.06.018.
- 13Chen Y-T, Cornblath M, Sidbury JB. Cornstarch Therapy in Type I Glycogen-Storage Disease. N Engl J Med. 1984; 310(3): 171-175. https://doi.org/10.1056/nejm198401193100306.
- 14Bailey CJ, Gavin JR. Flash Continuous Glucose Monitoring: A Summary Review of Recent Real-World Evidence. Clin Diabetes. 2021; 39(1): 64-71. https://doi.org/10.2337/cd20-0076.
- 15Papoulidis I, Oikonomidou E, Orru S, et al. Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: a case report. Mol Med Rep. 2014; 9(1): 163-165. https://doi.org/10.3892/mmr.2013.1788.
Citing Literature
