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ey0017.2-2 | Neonatal Hypoglycaemia | ESPEYB17

2.2. Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multi-centre study in the United Kingdom

SC Chen , A Dastamani , D Pintus , D Yau , S Aftab , L Bath , C Swinburne , L Hunter , A Giardini , G Christov , S Senniappan , I Banerjee , MG Shaikh , P Shah

To read the full abstract: Clin Endocrinol (Oxf). 2019 Dec;91(6):770775. PMID: 31520536Diazoxide is the first line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). The vast majority of patients tolerate diazoxide well without any major complications. However, diazoxide is known to cause several side effects including hypertrichosis, neutropaenia, thrombocytop...

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ey0020.13-8 | Section | ESPEYB20

13.8. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

MN Wakeling , NDL Owens , JR Hopkinson , MB Johnson , JAL Houghton , A Dastamani , CS Flaxman , RC Wyatt , TI Hewat , JJ Hopkins , TW Laver , R van Heugten , MN Weedon , E De Franco , KA Patel , S Ellard , NG Morgan , E Cheesman , I Banerjee , AT Hattersley , MJ Dunne , International Congenital Hyperinsulinism Consortium , SJ Richardson , SE Flanagan

In Brief: The authors performed whole genome sequencing on 135 patients with congenital hyperinsulinaemia (CHI) who had negative genetic testing for previously known CHI genes. They identified nine different non-coding de novo variants (carried by 14 probands) located in a regulatory region of HK1 intron 2 that co-segregated with disease in families.Comment: HK1 is a disallowed gene in the liver and pancreatic beta cells. Th...

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ESPE Yearbook of Paediatric Endocrinology

2.2. Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multi-centre study in the United Kingdom

13.8. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

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