Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1
| العنوان: | Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1 |
|---|---|
| المؤلفون: | Pratik Shah, Henrike Hoermann, Antonia Dastamani, Spyros Batzios, Ellada Sotiridou, Sommayya Aftab, Sebastian Kummer, Eva Thimm, Louise Doodson |
| المصدر: | Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2021) Endocrinology, Diabetes & Metabolism Case Reports |
| بيانات النشر: | Bioscientifica, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, January, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Cholestasis, Renal tubular dysfunction, Neonatal, Germany, Diabetes mellitus, Internal medicine, Internal Medicine, Diazoxide, medicine, Coagulopathy, Pancreas, lcsh:RC648-665, business.industry, Diabetes, Unique/Unexpected Symptoms or Presentations of a Disease, medicine.disease, United Kingdom, Paediatric, 030220 oncology & carcinogenesis, Female, Liver function, Asian - other, business, Asian - Pakistani, Hyperinsulinism, Chlorothiazide, medicine.drug |
| الوصف: | Summary Tyrosinaemia type 1 (TT1) is a rare inherited disorder of amino acid metabolism typically presenting with liver failure and renal tubular dysfunction. We describe three individuals with TT1 and transient hyperinsulinaemic hypoglycaemia (HH). Two siblings with TT1 and acute liver dysfunction were diagnosed with hyperinsulinaemic hypoglycaemia in the neonatal period. Both siblings were successfully treated with diazoxide/chlorthiazide and treatment was gradually weaned and stopped after 8 and 6 months of age respectively. The third patient presented with a neonatal liver failure with mild cholestasis, coagulopathy, fundus haemorrhages, vitamin A and E deficiency and hyperinsulinaemic hypoglycaemia. He maintained euglycaemia on high dose diazoxide (5–12 mg/kg/day) but developed pulmonary hypertension at 12 weeks of age. After discontinuation of diazoxide, he continued maintaining his blood glucose (BG) within the normal range. Although histological abnormalities of the pancreas including beta-cell hyperplasia are well documented, the exact mechanism of excessive insulin secretion in TT1 is not well understood. It may be related to the accumulation of toxic metabolites in the target organs including pancreas. Therefore, in patients with TT1 and persistent hypoglycaemia beyond the recovery of the acute liver failure, it is important to exclude hyperinsulinism which is usually transient and can be successfully treated with diazoxide and chlorothiazide. Further studies are required to determine which factors contribute to excessive insulin secretion in patients with TT1. Learning points: Every child with TT1 should be monitored for signs and symptoms of hypoglycaemia and screened for HH at the time of real hypoglycaemia. If hypoglycaemic episodes persist even after improvement of liver function, hyperinsulinism should be suspected. Treatment with diazoxide is effective, however, children need to be monitored closely for possible side effects. The pathophysiological mechanism of hyperinsulinism in children with TT1 is not elucidated yet and further studies are required to determine which factors contribute to excessive insulin secretion in patients with TT1. |
| تدمد: | 2052-0573 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d4f6bd8b4769281c0e3e8206d9772bTest https://doi.org/10.1530/edm-20-0174Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....12d4f6bd8b4769281c0e3e8206d9772b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20520573 |
|---|