Assessment of Nifedipine therapy in Hyperinsulinemic Hypoglycemia due to mutations in the ABCC8 gene
| العنوان: | Assessment of Nifedipine therapy in Hyperinsulinemic Hypoglycemia due to mutations in the ABCC8 gene |
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| المؤلفون: | Khalid Hussain, Louise Hinchey, Maria Guemes, Shavel Silvera, Clare Gilbert, Pratik Shah, Kate Morgan |
| المصدر: | The Journal of Clinical Endocrinology & Metabolism. :jc.2016-2916 |
| بيانات النشر: | The Endocrine Society, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, medicine.medical_specialty, Nifedipine, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Nesidioblastosis, 030209 endocrinology & metabolism, Context (language use), Pharmacology, Octreotide, Sulfonylurea Receptors, medicine.disease_cause, Biochemistry, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Gastrointestinal Agents, Internal medicine, medicine, Diazoxide, Humans, Prospective Studies, Hyperinsulinemic hypoglycemia, Glycemic, business.industry, Biochemistry (medical), Infant, Starch, Calcium Channel Blockers, Glucagon, medicine.disease, Treatment Outcome, 030104 developmental biology, Child, Preschool, Congenital hyperinsulinism, Verapamil, Congenital Hyperinsulinism, Drug Therapy, Combination, Female, business, medicine.drug |
| الوصف: | Previous case reports have documented the effectiveness of l-type calcium channel blockers (such as nifedipine and verapamil) for treating different forms of hyperinsulinemic hypoglycemia (HH).To systematically assess the glycemic response to nifedipine therapy in 11 patients with HH due to mutations in the ABCC8 gene.Dose escalation of nifedipine therapy.Eleven children who were inpatients at a tertiary hospital and had diazoxide unresponsive HH due to mutations in the ABCC8 gene.Nifedipine was administered orally at an escalating dose up to a maximum of 2.5 mg/kg/d.Improvement in glycemic control, avoidance of hypoglycemic episodes, reduction of intravenous glucose infusion, and reduction in the requirements of other medical therapies.The median age of the patients was 0.44 years (range 0.14 to 3.77). The ABCC8 gene mutations were homozygous in 3 cases, paternally inherited heterozygous in 4, and compound heterozygous in 4. 18F-DOPA PET/CT scan demonstrated a focal lesion in 2 cases and the rest were diffuse HH disease. One subject had nifedipine as monotherapy, whereas the rest had it in combination with octreotide/glucagon/diazoxide or cornstarch. After a median of 6.5 (3 to 23) days of maximal (2.5 mg/kg/d) dose of nifedipine therapy, none of the patients showed any improvement in glycemic control and patients continued to have hypoglycemic episodes.HH due to mutations in the ABCC8 gene does not respond to nifedipine therapy. Mutations in the KATP channel genes might render the l-type calcium channel ineffective to therapy with nifedipine. |
| تدمد: | 1945-7197 0021-972X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8348c33014fb1c2ccf7e219bf1c97ad9Test https://doi.org/10.1210/jc.2016-2916Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8348c33014fb1c2ccf7e219bf1c97ad9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19457197 0021972X |
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