Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene

Lee,Yong-Wha

doi:10.3892/etm.2013.1326

December 2013 Volume 6 Issue 6

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December 2013 Volume 6 Issue 6

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Article

Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene

Authors:
- Yong-Wha Lee
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Affiliations: Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital and Soonchunhyang University College of Medicine, Bucheon, Gyeonggi 420-767, Republic of Korea
Pages: 1532-1534
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Published online on: October 4, 2013

https://doi.org/10.3892/etm.2013.1326
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Abstract

Primary renal glucosuria (PRG; OMIM #233100) is characterized by persistent glucosuria due to a reduction in the renal tubular reabsorption of glucose in the presence of a normal concentration of serum glucose and the absence of any other impairment of tubular function. The SLC5A2 gene is the causative gene, which codes for the low-affinity sodium/glucose co-transporter SGLT2. In the present study, the case of a patient with PRG associated with a novel mutation of the SLC5A2 gene is reported. The patient visited hospital for the evaluation of glucosuria in the absence of hyperglycemia, a condition that had been present for >20 years. The patient showed a fasting blood sugar level of 104 mg/dl, a 2-h postprandial sugar level of 101 mg/dl, a sodium level of 144 mmol/l, a potassium level of 3.7 mmol/l and a chloride level of 106 mmol/l in serum. Urine chemistry revealed that the amount of glucose excreted was 10.8 g/1.73 m2/24 h; however, the levels of the other parameters were unremarkable. Polymerase chain reaction (PCR) sequencing analysis of the SLC5A2 gene from the patient revealed a novel 1 bp deletion mutation, which altered the coding sequence of exon 10 in the transmembrane domain (c.1162delG; Ala388ProfsX48), suggesting an autosomal dominant inheritance pattern. This study identified a novel mutation in the SLC5A2 gene related to a benign clinical characteristic and suggests that the molecular diagnosis of the SLC5A2 gene may be useful for diagnosing renal glucosuria in patients and for deciding intervention measures for their family members.

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1	van den Heuvel LP, Assink K, Willemsen M and Monnens L: Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). Hum Genet. 111:544–547. 2002.PubMed/NCBI
2	Santer R, Kinner M, Lassen CL, et al: Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J Am Soc Nephrol. 14:2873–2882. 2003. View Article : Google Scholar : PubMed/NCBI
3	Calado J, Loeffler J, Sakallioglu O, et al: Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. Kidney Int. 69:852–855. 2006. View Article : Google Scholar : PubMed/NCBI
4	Calado J, Soto K, Clemente C, Correia P and Rueff J: Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. Hum Genet. 114:314–316. 2004. View Article : Google Scholar : PubMed/NCBI
5	Kleta R, Stuart C, Gill FA and Gahl WA: Renal glucosuria due to SGLT2 mutations. Mol Genet Metab. 82:56–58. 2004. View Article : Google Scholar : PubMed/NCBI
6	Francis J, Zhang J, Farhi A, Carey H and Geller DS: A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria. Nephrol Dial Transplant. 19:2893–2895. 2004. View Article : Google Scholar : PubMed/NCBI
7	Magen D, Sprecher E, Zelikovic I and Skorecki K: A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. Kidney Int. 67:34–41. 2005. View Article : Google Scholar : PubMed/NCBI
8	Cruz DN, Simon DB, Nelson-Williams C, et al: Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension. 37:1458–1464. 2001. View Article : Google Scholar : PubMed/NCBI
9	Chao EC and Henry RR: SGLT2 inhibition - a novel strategy for diabetes treatment. Nat Rev Drug Discov. 9:551–559. 2010. View Article : Google Scholar : PubMed/NCBI
10	Wells RG, Pajor AM, Kanai Y, Turk E, Wright EM and Hediger MA: Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter. Am J Physiol. 263:F459–465. 1992.PubMed/NCBI
11	Calado J, Sznajer Y, Metzger D, et al: Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. Nephrol Dial Transplant. 23:3874–3879. 2008.PubMed/NCBI

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene

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