Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China

Li, Xiuzhen; Xu, Anlong; Sheng, Huiying; Ting, Tzer Hwu; Mao, Xiaojian; Huang, Xiuli; Jiang, Mao Fa; Cheng, Jing; Liu, Li

doi:10.1111/pedi.12560

Cited by 19 publications

(17 citation statements)

References 29 publications

(63 reference statements)

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“…Of the seven patients carrying chromosome abnormalities, six (85.71%) were NDM, whereas only case 46 with a de novo 4p15.1 gross duplication was "infantile onset" diabetes with age of onset at 10 months. Among the five different chromosome abnormalities, 6q24 abnormalities (pUPD or duplication) were identified in four patients with NDM; a 11.76 Mb deletion at 1p36.23p36.12 was found in case 31 with symptoms of congenital heart disease, dysmorphic craniofacial features and psychomotor retardation, which had already been described in our previous report 17 ; a 17p13.3 duplication was found in case 32; and a 4p15.1 duplication was detected in case 46 (table 2 and online supplementary table S1).…”

Section: Genetic Spectrumsupporting

confidence: 64%

Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age

Lin

Sheng

Ting

et al. 2020

BMJ Open Diab Res Care

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IntroductionA specific molecular diagnosis of monogenic diabetes mellitus (MDM) will help to predict the clinical course and guide management. This study aims to identify the causative genes implicated in Chinese patients with MDM with onset before 3 years of age.Research design and methods71 children with diabetes mellitus (43 diagnosed before 6 months of age, and 28 diagnosed between 6 months and 3 years of age who were negative for diabetes-associated autoantibodies) underwent genetic testing with a combination strategy of Sanger sequencing, chromosome microarray analysis and whole exome sequencing. They were categorized into four groups according to the age of onset of diabetes (at or less than 6 months, 6 to 12 months, 1 to 2 years, 2 to 3 years) to investigate the correlation between genotype and phenotype.ResultsGenetic abnormalities were identified in 39 of 71 patients (54.93%), namely KCNJ11 (22), ABCC8 (3), GCK (3), INS (3), BSCL2 (1) and chromosome abnormalities (7). The majority (81.40%, 35/43) of neonatal diabetes diagnosed less than 6 months of age and 33.33% (3/9) of infantile cases diagnosed between 6 and 12 months of age had a genetic cause identified. Only 11.11% (1/9) of cases diagnosed between 2 and 3 years of age were found to have a genetic cause, and none of the 10 patients diagnosed between 1 and 2 years had a positive result in the genetic analysis. Vast majority or 90.48% (19/21) of patients with KCNJ11 (19) or ABCC8 (2) variants had successful switch trial from insulin to oral sulfonylurea.ConclusionsThis study suggests that genetic testing should be given priority in diabetes cases diagnosed before 6 months of age, as well as those diagnosed between 6 and 12 months of age who were negative for diabetes-associated autoantibodies. This study also indicates significant impact on therapy with genetic cause confirmation.

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Section: Genetic Spectrumsupporting

confidence: 64%

Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age

Lin

Sheng

Ting

et al. 2020

BMJ Open Diab Res Care

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“…In China, Li et al. reported that the genetic etiology could be determined in 84% (19/23) of Chinese patients with neonatal diabetes mellitus, which was higher than the outcomes from Cao et al. (60%; 15/25).…”

Section: Introductionmentioning

confidence: 79%

“…The overexpression of genes at chromosome 6q24 is the most common cause of transient neonatal diabetes mellitus (OMIM 601410), which encompasses 70% of all cases. Basic and clinical studies suggest that sulfonylurea can help with the closing of the adenosine triphosphate‐sensitive potassium channel, and improve glycemic control and neurological outcomes, which was also confirmed in Chinese patients. Thus, molecular diagnosis is vital for accurate diagnosis and prognosis assessment for neonatal diabetes mellitus.…”

Section: Introductionmentioning

confidence: 96%

“…According to the clinical consequences, neonatal diabetes mellitus can be divided into two forms, transient neonatal diabetes mellitus and permanent neonatal diabetes mellitus. Transient neonatal diabetes mellitus accounts for 50–60% of neonatal diabetes mellitus, which is 28–56.5% in Chinese patients. Transient neonatal diabetes mellitus is generally diagnosed within 1 month after birth (median 6 days), and is characterized by intrauterine growth retardation with a low original dose of insulin for replacement and yields a “Diabetes–Remission–Relapse” natural history, which enters remission after 12 weeks, whereas it might relapse in young adults.…”

Section: Introductionmentioning

confidence: 99%

“…To date, >20 genes have been recognized as key elements that cause permanent neonatal diabetes mellitus, of which mutations in KCNJ11 and ABCC8 accounted for 40–60% of all occasions, which was 53.3–68.4% in China. They are separately responsible for Kir6.2 and SUR1 of the adenosine triphosphate‐sensitive potassium channel.…”

Section: Introductionmentioning

confidence: 99%

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Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population

Wang

et al. 2019

J of Diabetes Invest

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Aims/Introduction: Neonatal diabetes mellitus is created by alterations in the genes responsible for beta-cell mass and/or function. The present study aimed to evaluate the genetic variants in the insulin gene (INS) in four Chinese infants aged <12 months with diabetes onset, and to explore the clinical and genetic characteristics of permanent neonatal diabetes mellitus caused by INS mutations. Materials and Methods: The complete coding sequences of KCNJ11, ABCC8 and INS were detected using Sanger sequencing. The pathogenicity of the mutations was determined based on the American College of Medical Genetics and Genomics, and the structure of wild-type and mutant proteins was predicted using the web-based tool, Phyre2. Results: One novel mutation (p.I99_C100insSI) and three previously reported variants (p.G32S, p.R89C and p.C96R) in INS were identified in four infants with early-onset diabetes. All the mutations in the four patients were de novo. Except for mutation R89C, which causes permanent neonatal diabetes mellitus through the addition of an additional cysteine residue at the cleavage site of the A chain and C-peptide, the other three mutations affected disulfide bonds. The patients had diabetes with marked hyperglycemia or diabetic ketoacidosis, and were then treated with exogenous insulin. Mutations in crucial regions of the INS might give rise to diabetes with varying severity. Conclusions: This study enriches our awareness of the mutant spectrum in INS, and suggests the important role of INS in the development of permanent neonatal diabetes mellitus.

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Rare Forms of Early Onset Diabetes

Rabbone

Cherubini²,

Franzese³

et al. 2023

Neonatal and Early Onset Diabetes Mellitus

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Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China

Abstract: Molecular genetic diagnosis is recommended in all patients with NDM. However, if genetic testing results are delayed, sulfonylurea therapy should be considered before such results are received, even in infants with newly diagnosed NDM.

Cited by 19 publications

References 29 publications

Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age

Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age

Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population

Rare Forms of Early Onset Diabetes

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