Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement
| Autor: | Timothy J. McDonald, Bridget A. Knight, Rachel Besser, Maggie Shepherd, Tarig Babiker, Sarah E. Flanagan, Mandy H Perry, Sian Ellard, Andrew T. Hattersley |
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| Rok vydání: | 2017 |
| Předmět: |
Blood Glucose
Male Pediatrics medicine.medical_specialty Neonatal diabetes Endocrinology Diabetes and Metabolism Blood spots 030209 endocrinology & metabolism Mass Spectrometry Article 03 medical and health sciences 0302 clinical medicine Neonatal diabetes mellitus Diabetes mellitus Internal Medicine medicine Humans 030212 general & internal medicine Normal range Retrospective Studies business.industry Glucose Measurement Infant Newborn Infant medicine.disease Newborn 3. Good health Ketoacidosis Dried blood spot Surgery Glucose Case-Control Studies Hyperglycemia Screening Female Dried Blood Spot Testing business Genetic diagnosis |
| Zdroj: | Diabetologia |
| ISSN: | 1432-0428 |
| Popis: | Aims/hypothesis The majority of infants with neonatal diabetes mellitus present with severe ketoacidosis at a median of 6 weeks. The treatment is very challenging and can result in severe neurological sequelae or death. The genetic defects that cause neonatal diabetes are present from birth. We aimed to assess if neonatal diabetes could be diagnosed earlier by measuring glucose in a dried blood spot collected on day 5 of life. Methods In this retrospective case–control study we retrieved blood spot cards from 11 infants with genetically confirmed neonatal diabetes (median age of diagnosis 6 [range 2–112] days). For each case we also obtained one (n = 5) or two (n = 6) control blood spot cards collected on the same day. Glucose was measured on case and control blood spot cards. We established a normal range for random glucose at day 5 of life in 687 non-diabetic neonates. Results All 11 neonates with diabetes had hyperglycaemia present on day 5 of life, with blood glucose levels ranging from 10.2 mmol/l to >30 mmol/l (normal range 3.2–6.0 mmol/l). In six of these neonates the diagnosis of diabetes was made after screening at day 5, with the latest diagnosis made at 16 weeks. Conclusions/interpretation Neonatal diabetes can be detected on day 5 of life, preceding conventional diagnosis in most cases. Earlier diagnosis by systematic screening could lead to prompt genetic diagnosis and targeted treatment, thereby avoiding the most severe sequelae of hyperglycaemia in neonates. |
| Databáze: | OpenAIRE |
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