Výsledky vyhledávání - "familial renal glucosuria"

Akademický článek

Rare Genetic Kidney Diseases: Windows of Precision Nephrology

Autor: ZHANG Lei, YUE Cai, LIU Yan, CHEN Limeng

Publikováno v: 罕见病研究, Vol 3, Iss 1, Pp 1-11 (2024)

As an important category of rare diseases, rare genetic kidney diseases have many types. In recent years, their diagnosis, treatment, research and management strategies have made great progress. Continuously more new genes and mechanisms have been di

Externí odkaz: https://doaj.org/article/7c96a362308140a186ddbfe910f3c9b6

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Akademický článek

Familial renal glucosuria presenting as paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant

Autor: Robin Van Lerberghe, Elien Mahieu, Johan Vanuytsel, Karen Vanhaute, Celine Vanfraechem, Laurens Claeys

Publikováno v: European Journal of Case Reports in Internal Medicine (2023)

Familial renal glucosuria (FRG) is a rare genetic disease characterised by isolated glucosuria in the absence of proximal tubular dysfunction. It usually occurs due to a mutation in the SLC5A2 gene encoding the sodium-glucose cotransporter-2 (SGLT2),

Externí odkaz: https://doaj.org/article/8ba764e6df924579adbf7a8979571771

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Akademický článek

Case report: Identification of three novel compound heterozygous SGLT2 variants in three Chinese pediatric patients with familial renal glucosuria

Autor: Huimei Huang, Xiantao Wu, Qing He, Xuqin Liang, Yi Ding, Zhijuan Li, Zhanping Ren, Ying Bao

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

Familial renal glucosuria (FRG) is a rare genetic condition featured by isolated glucosuria without hyperglycemia or other kidney diseases. It is caused by pathogenic mutations of the SGLT2 (Sodium-Glucose Cotransporter 2) gene, whose protein product

Externí odkaz: https://doaj.org/article/5af5892fe205408183710ac5f1c50a88

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Akademický článek

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

Autor: Kentaro Sada, Shuji Hidaka, Nao Imaishi, Kohei Shibata, Rumi Katashima, Shinsuke Noso, Hiroshi Ikegami, Tetsuya Kakuma, Hirotaka Shibata

Publikováno v: Journal of Diabetes Investigation, Vol 11, Iss 3, Pp 573-577 (2020)

Abstract We report the identification of a mutation in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium–glucose cotransporter 2, in a family with familial renal glucosuria. The proband was a 26‐year‐old Japanese man refe

Externí odkaz: https://doaj.org/article/4adc47b1a67f479daee3918ca9fe5c39

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Akademický článek

SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families

Autor: Lei Yu, Meng Wu, Ping Hou, Hong Zhang

Publikováno v: BMC Nephrology, Vol 21, Iss 1, Pp 1-8 (2020)

Abstract Background Familial renal glucosuria (FRG) is characterized by persistent glucosuria without other impairments of tubular function in the presence of normal serum glucose. SGLT2, which is almost exclusively expressed in the kidney, accounts

Externí odkaz: https://doaj.org/article/6e8d3394c1264353bb8083d598866466

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Akademický článek

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Akademický článek

Distribution of glucose transporters in renal diseases

Autor: Leszek Szablewski

Publikováno v: Journal of Biomedical Science, Vol 24, Iss 1, Pp 1-12 (2017)

Abstract Kidneys play an important role in glucose homeostasis. Renal gluconeogenesis prevents hypoglycemia by releasing glucose into the blood stream. Glucose homeostasis is also due, in part, to reabsorption and excretion of hexose in the kidney. L

Externí odkaz: https://doaj.org/article/8d1cc9f3ae2a415895c4e4b1ee51add0

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Are the Protective Effects of SGLT2 Inhibitors a 'Class-Effect' or Are There Differences between Agents?

Autor: Christos Argyropoulos, Namita Singh, Darren W. Schmidt

Publikováno v: Kidney360

The cardiorenal benefits of sodium-glucose cotransporter 2 (SGLT2) inhibitors (SGLT2is) are transforming the care of CKD. An inherent challenge of practice-changing advances on this scale is how to best incorporate them into daily practice. In this v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d5a1ee169eda57cd83f945b99a0e3b6
https://doi.org/10.34067/kid.0000622021

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