Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the <scp>ATP</scp>‐sensitive potassium channel (<scp>KCNJ</scp>11)

Martins, Luísa Correia; Lourenço, Rita; Maia, Ana Lucia Rosa e Silva; Maciel, Paula; Monteiro, Maria Isabel; Pacheco, Lucinda; Anselmo, João; César, Rui; Gomes, Maria Fernanda Pereira

doi:10.1002/ccr3.328

Cited by 7 publications

(4 citation statements)

References 18 publications

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“…Te KCNJ11 p.E227K mutation has been reported in patients with a range of diabetes presentation including neonatal and later-onset phenotypes [12][13][14]. It has been previously described in a patient with TNDM, axial hypotonia during infancy, and moderate neurodevelopmental delay in language and mathematical reasoning during childhood [15]. However, this mutation has not been associated with seizures.…”

Section: Discussionmentioning

confidence: 99%

Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring

Lee,

Gloyn,

Maahs

et al. 2023

Case Reports in Endocrinology

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Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes. Management of hyperglycemia in neonates with subcutaneous insulin is challenging because of frequent feeding, variable quantity of milk intake with each feed, low insulin dose requirements, and high risk for hypoglycemia and associated complications in this population. We present a case of NDM in a proband initially presenting with focal seizures and diabetic ketoacidosis due to a pathologic mutation in the beta cell potassium ATP channel gene KCNJ11 c.679G > A (p.E227K). We describe the use of continuous glucose monitoring (CGM), insulin pump, automated insulin delivery system, and remote patient monitoring technologies to facilitate rapid and safe outpatient cross-titration from insulin to oral sulfonylurea. Our case highlights the safety and efficacy of these technologies for infants with diabetes, including improvements in glycemia, quality of life, and cost-effectiveness by shortening hospital stay.

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Section: Discussionmentioning

confidence: 99%

Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring

Lee,

Gloyn,

Maahs

et al. 2023

Case Reports in Endocrinology

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“…Metabolic syndrome in the elderly has a significant correlation with genetic information; however, the pathogenesis of metabolic syndrome in the elderly remains unknown. There is no efficient medication for metabolic syndrome in the elderly at present ( 17 ). Clinical data show that approximately 18.4% of elderly patients with metabolic syndrome suffer from varying degrees of fatty liver and abnormal blood lipid levels ( 18 ).…”

Section: Discussionmentioning

confidence: 99%

Study on the correlation between KCNJ11 gene polymorphism and metabolic syndrome in the elderly

Jiang

Liu

Chen

et al. 2017

Experimental and Therapeutic Medicine

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The aim of the study was to examine the correlation between KCNJ11 gene polymorphism and metabolic syndrome in elderly patients. From January 2014 to January 2015, 54 elderly patients with metabolic syndrome were enrolled in this study as the observation group. During the same period, 46 healthy elderly individuals were enrolled in this study as the control group. KCNJ11 gene polymorphism (rs28502) was analyzed using polymerase chain reaction-restriction fragment length polymorphism. The expression levels of mRNA in different genotypes were detected using FQ-PCR. ELISA was used to evaluate the KCNJ11 protein expression in different genotypes. KCNJ11 gene polymorphism and metabolic syndrome was studied by measuring the blood pressure levels in patients with different genotypes. Three genotypes of KCNJ11 gene in rs28502 were CC, CT and TT. The CC, CT and TT genotype frequencies in healthy population were 8.5, 9.2 and 82.2%, respectively, while the genotype frequencies in patients with metabolic syndrome were 42.4, 49.8 and 7.8%, respectively. There were significant differences between groups (P≤0.05). However, the genotype frequencies of C/T in healthy individuals and metabolic syndrome patients were 35.3 and 38.3%, respectively. There were no significant differences between groups (P>0.05). FQ-PCR results showed that the KCNJ11 mRNA expression levels in the control and observation groups had no significant differences (P>0.05). However, the results obtained from ELISA analysis revealed that KCNJ11 protein expression level in the observation group was significantly higher than that in the control group (P<0.05). In conclusion, KCNJ11 gene polymorphism is associated with metabolic syndrome in the elderly. Elderly patients with the CC and TT genotypes are more likely to develop metabolic syndrome.

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“…Neonatal diabetes mellitus (NDM), although a rare entity, generally occurs in the first week of life, with a maximum incidence of around 1 in 300,000. 1 It usually presents with persistent hyperglycaemia, showing little to no response to insulin, and normal serum insulin levels. This abnormality may be transient, which is usually 50% of NDM cases, and resolves spontaneously in most cases around 12 weeks after which body yields normal insulin response.…”

Section: Introductionmentioning

confidence: 99%

Neonatal Diabetes Mellitus – Is Trisomy 21 Associated With Refractory Hyperglycaemia?

Mirza

Dhillon

Irfan³

et al. 2022

J Ayub Med Coll Abbottabad

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Background: Neonatal diabetes mellitus is a rare disorder characterized by refractory hyperglycaemia which is further divided into two types, transient (TNDM) and permanent neonatal diabetes (PNDM), which is associated with genetic aberrations at the human chromosome 6q24 accompanied with pancreatic structural abnormalities or b-cell dysfunction requiring insulin treatment. This case report analyzes a rare correlation between a case of permanent neonatal diabetes mellitus with Trisomy 21. Methods: An infant presented with intrauterine growth retardation and very low birth weight showing signs of persistent hyperglycaemia where genetic analysis suggested presence of permanent neonatal diabetes mellitus accompanied with Trisomy 21. Chest X-ray examination alongside an echocardiogram revealed significant pericardial tamponade. By the 6th week of life, pericardial effusion spontaneously resolved supported by normal follow-up echocardiograms without any treatment plan. The patient became euglycemic by 3rd week of life and discharged. Conclusion: Neonates with diabetes mellitus usually present with clinical features such as low-birth weight, ketoacidosis, consistent insulin-requiring hyperglycaemia and preterm. This case report shows a correlation between neonatal diabetes and genetic syndromes. Treatment plans can be improved by conducting genetic studies between these two variables and understanding the long-term outcomes.

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Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP‐sensitive potassium channel (KCNJ11)

Cited by 7 publications

References 18 publications

Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring

Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring

Study on the correlation between KCNJ11 gene polymorphism and metabolic syndrome in the elderly

Neonatal Diabetes Mellitus – Is Trisomy 21 Associated With Refractory Hyperglycaemia?

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