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A young-onset type 2 diabetic Chinese girl with familial renal glycosuria caused by a novel mutation in SLC5A2: A case report.

作者信息

Qu Yuqing, Hao Limei, Wang Xianling

机构信息

Department of Endocrinology, Yantai Yuhuangding Hospital, Yantai, China.

Department of Endocrinology, The First Medical Center of Chinese PLA General Hospital, Beijing, China.

出版信息

J Diabetes. 2023 Jul;15(7):622-626. doi: 10.1111/1753-0407.13410. Epub 2023 May 16.

DOI:10.1111/1753-0407.13410
PMID:37193603
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10345970/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb4c/10345970/f4f80d4be2ec/JDB-15-622-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb4c/10345970/f4f80d4be2ec/JDB-15-622-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb4c/10345970/f4f80d4be2ec/JDB-15-622-g001.jpg

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本文引用的文献

1
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.不完全显性与可变表达：从临床研究到人群队列
Front Genet. 2022 Jul 25;13:920390. doi: 10.3389/fgene.2022.920390. eCollection 2022.
2
Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor.遗传性肾性糖尿、糖尿病与 SGLT2 抑制剂的反应。
J Diabetes. 2022 Mar;14(3):216-220. doi: 10.1111/1753-0407.13254. Epub 2022 Feb 28.
3
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
TP63 基因新错义突变导致新生儿 Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) 综合征：临床报告及随访。
Ital J Pediatr. 2021 Sep 28;47(1):196. doi: 10.1186/s13052-021-01152-y.
4
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.雅各布森综合征与新生儿出血：两例非相关患者报告。
Ital J Pediatr. 2021 Jul 1;47(1):147. doi: 10.1186/s13052-021-01108-2.
5
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.两个来自同一小镇的意大利患者中 novel SCNN1A 基因剪接位点突变导致常染色体隐性假性醛固酮增多症 1 型（PHA1）。
Ital J Pediatr. 2021 Jun 16;47(1):138. doi: 10.1186/s13052-021-01080-x.
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Adverse events associated with sodium glucose co-transporter 2 inhibitors: an overview of quantitative systematic reviews.与钠-葡萄糖协同转运蛋白2抑制剂相关的不良事件：定量系统评价概述
Ther Adv Drug Saf. 2021 Jan 26;12:2042098621989134. doi: 10.1177/2042098621989134. eCollection 2021.
7
Approach to the Patient with MODY-Monogenic Diabetes.MODY-单基因糖尿病患者的处理方法。
J Clin Endocrinol Metab. 2021 Jan 1;106(1):237-250. doi: 10.1210/clinem/dgaa710.
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