scholarly journals Successful transition from insulin to sulfonylurea, on second attempt, in a 24-year-old female with neonatal diabetes secondary to KCNJ11 gene mutation

2021 ◽  
Vol 14 (4) ◽  
pp. e239973
Author(s):  
Sulaiman Hajji ◽  
Khaled Aljenaee ◽  
Aoife Garrahy ◽  
Maria Byrne
Keyword(s):  
Blood Glucose ◽  
Glycaemic Control ◽  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Later Life ◽  
Total Daily Dose ◽  
High Dose ◽  
Old Irish ◽  
Kcnj11 Gene ◽  
Blood Glucose Homeostasis

Neonatal diabetes (NDM) is defined as diabetes that occurs in the first 6 months of life, the majority of cases are due to sporadic mutations. ATP-sensitive potassium channels located in the beta cells of the pancreas play a major role in insulin secretion and blood glucose homeostasis. Mutations that alter the function of these channels may lead to NDM. We report a case of a 26-year-old Irish woman who was diagnosed with NDM at the age of 4 weeks and treated as type 1 diabetes mellitus, with multiple daily injections of insulin with suboptimal glycaemic control and frequent episodes of hypoglycaemic. She underwent genetic testing for NDM and was diagnosed with a KCNJ11 gene mutation. She was transitioned to high dose glibenclamide at the age of 16 years, but the trial failed due to poor glycaemic control and patient preference, and she was restarted on insulin. At 24 years of age, she was successfully transitioned from insulin (total daily dose 50 units) to high dose sulfonylurea (SU) (glibenclamide 15 mg twice daily). This resulted in optimal control of blood glucose (HbA1C fell from 63 to 44 mmol/mol), lower rates of hypoglycaemic and better quality of life. This case demonstrates that a second trial of SU in later life may be successful.

scholarly journals Successful transition to sulphonylurea therapy from insulin in a child with permanent neonatal diabetes due to a KCNJ11 gene mutation

2018 ◽  
Vol 9 (2) ◽  
pp. 65 ◽  
Author(s):  
Venkatesan Radha ◽  
Bhuvanagiri Ramya ◽  
Sundaramoorthy Gopi ◽  
Babu Kavitha ◽  
Somayajula Preetika ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Successful Transition ◽  
Kcnj11 Gene

scholarly journals Suggested Insulin Regimen for Pregnant Women with Diabetes Who Wish To Fast in Ramadan

2018 ◽  
Vol 17 (2) ◽  
Author(s):  
Ahmad Shuib Yahaya ◽  
Adibah Ibrahim ◽  
Mohd Shukri Othman ◽  
Mohd Pazudin Ismail
Keyword(s):  
Blood Glucose ◽  
Glycaemic Control ◽  
Pregnant Women ◽  
Insulin Requirement ◽  
Hypoglycaemic Episode ◽  
Total Daily Dose ◽  
Insulin Regimen ◽  
Ramadan Fasting ◽  
Safety And Efficacy ◽  
Acting Insulin

Introduction: Pregnant women are among those who are exempted from Ramadan fasting. Despite that, many pregnant women had chosen to fast despite understanding the risk of complications especially hypoglycaemia. In Hospital USM (HUSM), an insulin regime for pregnant women who wish to fast was designed based on expert opinion of obstetricians, but its safety and efficacy are yet to be determined. Objective: To determine the safety and efficacy of the formulated insulin regime using subcutaneous Actrapid® and Insulatard® amongst pregnant women with diabetes who fast in Ramadan. Methodology: Pregnant patients with diabetes on insulin who wish to fast during Ramadan were invited to participate in the study. The total daily dose of insulin requirement prior to Ramadan was divided 3 parts; 2/3 for iftar (sunset meal) and 1/3 for sahur (pre-dawn meal). For each timing, 2/3 of the calculated dose was given as short-acting insulin Actrapid® and remaining 1/3 as intermediate-acting insulin Insulatard®. Three patients were monitored in the ward while fasting for two days. Blood glucose checked eight times a day. Following that, eight patients were followed up during Ramadan fasting with this regime. Weekly blood sugar profile (BSP) was taken and glycaemic control evaluated. Results: All patients were able to fast without any hypoglycaemic episode, both during in-patient study and during out-patient Ramadan fasting. Mean daily blood glucose per day for in-patient monitoring was 7.3 mmol/l with the lowest being 4.56 mmol/l in the afternoon. During Ramadan fasting, average glucose level was higher (6.79 mmol/l) compared to prior to Ramadan value (5.67 mmol/l) (p> 0.05). However, improvement of glycaemic control was observed towards end of Ramadan. Conclusion: Pregnant women with diabetes treated with insulin can fast safely during Ramadan using the suggested insulin regime with improvement of glycaemic control observed at the end of Ramadan.

Permanent neonatal diabetes due to KCNJ11 gene mutation

2007 ◽  
Vol 74 (10) ◽  
pp. 947-949 ◽  
Author(s):  
S. Letha ◽  
Darly Mammen ◽  
Joseph J. Valamparampil
Keyword(s):  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Kcnj11 Gene

scholarly journals Novel Perspectives of Super-High Dose Glybenclamide in an Infant With DEND Syndrome

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A453-A453
Author(s):  
Galia Barash ◽  
Haim Bassan ◽  
Livne Ayelet ◽  
Lilach Benyamini ◽  
Eli Heyman ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Glucose Monitoring ◽  
Gene Mutations ◽  
Missense Variant ◽  
Neonatal Diabetes ◽  
Heterozygous Mutation ◽  
High Dose ◽  
Kcnj11 Gene ◽  
High Doses

Abstract Mutations in KCNJ11 gene cause a variety of persistent neonatal diabetes mellitus syndromes (PNDM), with and without developmental delay and epilepsy presentations (developmental delay, epilepsy, and neonatal diabetes - DEND Syndrome). We report a heterozygous mutation for pathogenic KCNJ11 missense variant: c.190G>A, p. (Val64Met), reported once so far, associated with severe epilepsy and neurological deterioration phenotype, responsive to a combination of super high doses of Glibenclamide (Sulfonylurea) and oral steroids. We had the patient attached to continuous glucose monitoring, performed electroencephalogramic tracings, magnetic resonance imaging and whole exome sequencing on parents and patient DNA and Sanger sequencing (SS) on candidate gene mutations. His phenotypic description and management during 18 months, demonstrates this mutation is responsive to super-high doses of SU combined with high dose 6 weeks steroids protocol. In conclusion, we have identified a de novo heterozygous missense mutation as the etiology for severe DEND syndrome in a one day old neonate, presenting with asymptomatic hyperglycemia, responsive to a novel management combination.

scholarly journals Protein C Gene Mutation in an Older Adult Patient with Clostridium perfringens Septicemia-Related Visceral Vein Thrombosis

TH Open ◽  
2021 ◽  
Vol 05 (02) ◽  
pp. e171-e173
Author(s):  
Kiyoko Kanosue ◽  
Satomi Nagaya ◽  
Eriko Morishita ◽  
Masayoshi Yamanishi ◽  
Shinsaku Imashuku
Keyword(s):  
Gene Mutation ◽  
Clostridium Perfringens ◽  
Protein C ◽  
Later Life ◽  
Heterozygous Mutation ◽  
Protein C Deficiency ◽  
Vein Thrombosis ◽  
Thrombosis Risk ◽  
Japanese Male ◽  
Old Japanese

AbstractA 78-year-old Japanese male with Clostridium perfringens septicemia and cholecystitis was found to have thrombosis in the left branch of intrahepatic portal vein as well as superior mesenteric vein. Visceral vein thrombosis (VVT) in this case was associated with protein C deficiency, due to a heterozygous mutation, p. Arg185Met. Our experience emphasizes that VVT, or other thromboembolic events, may occur in later life, triggered by environmental thrombosis risk factors, together with underlying hereditary protein C gene mutation.

Elevated Circulating Levels of Motilin are Associated with Diabetes in Individuals after Acute Pancreatitis

2019 ◽  
Vol 128 (01) ◽  
pp. 43-51 ◽  
Author(s):  
Fuchsia D. Gold-Smith ◽  
Ruma G. Singh ◽  
Maxim S. Petrov
Keyword(s):  
Acute Pancreatitis ◽  
Blood Glucose ◽  
Glycaemic Control ◽  
Confidence Interval ◽  
Gastrointestinal Motility ◽  
Fasting Blood Glucose ◽  
Glycated Haemoglobin ◽  
Symptom Index ◽  
Plasma Motilin ◽  
Cardinal Symptom

Abstract Aim The study aimed to investigate the associations between glycaemic control after acute pancreatitis and gastrointestinal motility, using plasma motilin concentration and gastroparesis cardinal symptom index score as proxies. Methods This cross-sectional study recruited a total of 93 individuals after acute pancreatitis. Gastroparesis cardinal index scores, demographic and anthropometric factors, as well as pancreatitis-related factors were analysed. Fasting venous blood was collected to measure motilin, glycated haemoglobin, and fasting blood glucose. Linear regression analyses were conducted to investigate the associations between glycaemic control and gastrointestinal motility in unadjusted and adjusted models. Results Motilin was significantly higher in individuals with diabetes across all adjusted models, with the highest ß-coefficient (95% confidence interval) of 588.89 (138.50, 1039.28); P=0.010. Fasting blood glucose was significantly associated with motilin across all models, with the highest ß-coefficient (95% confidence interval) of 156.30 (55.49, 257.10); P=0.002. Glycated haemoglobin was significantly associated with motilin in one adjusted model with ß-coefficient (95% confidence interval) of 18.78 (1.53, 36.02); P=0.033. Gastroparesis cardinal symptom index was not significantly associated with any measure of glycaemic control. Conclusions Diabetes in individuals after acute pancreatitis appears to be characterised by elevated plasma motilin but not gastroparesis cardinal symptom index. The role of motilin in this setting warrants further investigations.

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