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Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor
AIMS: To present the clinical features of two rare cases with hereditary renal glycosuria and diabetes, explore their responses to sodium‐glucose cotransporter 2 (SGLT2) inhibitor, and summarize the reported solute carrier family 5 member 2 (SLC5A2) mutations and related phenotypes. METHODS: Two pat...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wiley Publishing Asia Pty Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060016/ https://www.ncbi.nlm.nih.gov/pubmed/35229480 http://dx.doi.org/10.1111/1753-0407.13254 |
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author | Ren, Qian Gong, Siqian Han, Xuyao Ji, Linong |
author_facet | Ren, Qian Gong, Siqian Han, Xuyao Ji, Linong |
author_sort | Ren, Qian |
collection | PubMed |
description | AIMS: To present the clinical features of two rare cases with hereditary renal glycosuria and diabetes, explore their responses to sodium‐glucose cotransporter 2 (SGLT2) inhibitor, and summarize the reported solute carrier family 5 member 2 (SLC5A2) mutations and related phenotypes. METHODS: Two patients were followed up for 6.5 and 3 years respectively. SLC5A2 and hepatocyte nuclear factor 1‐alpha (HNF1A) gene were sequenced. We used the flash glucose monitoring system to evaluate the efficacy of SGLT2 inhibitor treatment. Then we retrieved all the literature and analyzed SLC5A2 gene mutations and the phenotypes. RESULTS: During long‐time follow up, the two patients had frequent unproportional renal glycosuria in the morning even when their fasting serum glucose was only slightly increased. A novel rare mutation V359G and a pathogenic rare mutation ivs7 + 5G > A in SLC5A2 gene were found respectively. In Case 1, the 24 h glucose excretion was 2.2 g/d and increased to 103 g/d after dapaglifozin treatment, whereas the average glucose (6.33 ± 1.56 vs. 6.28 ± 1.74 mmol/L), and time in range (TIR) (95% vs. 93%) were similar. In Case 2, the 24 h glycosuria was 121.4 g/d and increased to 185.8 g/day after dapaglifozin add‐on therapy, with a further reduction of average glucose (9.11 ± 2.63 vs. 7.54 ± 2.39 mmol/L, p < 0.001) and better TIR (70% vs. 84%). We reviewed 139 cases with hereditary renal glycosuria and SLC5A2 gene mutation. The urine glucose was highest in patients with homozygous mutations [64.0(36.6–89.6)g/24 h] compared with compound heterozygous mutations [25.9(14.4–41.2)g/24 h] and heterozygous mutations [3.45(1.41–7.50)g/24 h] (p < 0.001). CONCLUSIONS: Genetic renal glycosuria could not protect individuals completely from developing diabetes. Patients with SGLT2 gene mutations are still responsive to the SGLT2 inhibitor treatment. |
format | Online Article Text |
id | pubmed-9060016 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wiley Publishing Asia Pty Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-90600162022-07-12 Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor Ren, Qian Gong, Siqian Han, Xuyao Ji, Linong J Diabetes Original Articles AIMS: To present the clinical features of two rare cases with hereditary renal glycosuria and diabetes, explore their responses to sodium‐glucose cotransporter 2 (SGLT2) inhibitor, and summarize the reported solute carrier family 5 member 2 (SLC5A2) mutations and related phenotypes. METHODS: Two patients were followed up for 6.5 and 3 years respectively. SLC5A2 and hepatocyte nuclear factor 1‐alpha (HNF1A) gene were sequenced. We used the flash glucose monitoring system to evaluate the efficacy of SGLT2 inhibitor treatment. Then we retrieved all the literature and analyzed SLC5A2 gene mutations and the phenotypes. RESULTS: During long‐time follow up, the two patients had frequent unproportional renal glycosuria in the morning even when their fasting serum glucose was only slightly increased. A novel rare mutation V359G and a pathogenic rare mutation ivs7 + 5G > A in SLC5A2 gene were found respectively. In Case 1, the 24 h glucose excretion was 2.2 g/d and increased to 103 g/d after dapaglifozin treatment, whereas the average glucose (6.33 ± 1.56 vs. 6.28 ± 1.74 mmol/L), and time in range (TIR) (95% vs. 93%) were similar. In Case 2, the 24 h glycosuria was 121.4 g/d and increased to 185.8 g/day after dapaglifozin add‐on therapy, with a further reduction of average glucose (9.11 ± 2.63 vs. 7.54 ± 2.39 mmol/L, p < 0.001) and better TIR (70% vs. 84%). We reviewed 139 cases with hereditary renal glycosuria and SLC5A2 gene mutation. The urine glucose was highest in patients with homozygous mutations [64.0(36.6–89.6)g/24 h] compared with compound heterozygous mutations [25.9(14.4–41.2)g/24 h] and heterozygous mutations [3.45(1.41–7.50)g/24 h] (p < 0.001). CONCLUSIONS: Genetic renal glycosuria could not protect individuals completely from developing diabetes. Patients with SGLT2 gene mutations are still responsive to the SGLT2 inhibitor treatment. Wiley Publishing Asia Pty Ltd 2022-02-28 /pmc/articles/PMC9060016/ /pubmed/35229480 http://dx.doi.org/10.1111/1753-0407.13254 Text en © 2022 The Authors. Journal of Diabetes published by Ruijin Hospital, Shanghai JiaoTong University School of Medicine and John Wiley & Sons Australia, Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Ren, Qian Gong, Siqian Han, Xuyao Ji, Linong Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor |
title | Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor |
title_full | Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor |
title_fullStr | Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor |
title_full_unstemmed | Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor |
title_short | Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor |
title_sort | hereditary renal glycosuria, diabetes and responses to sglt2 inhibitor |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060016/ https://www.ncbi.nlm.nih.gov/pubmed/35229480 http://dx.doi.org/10.1111/1753-0407.13254 |
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