نتایج جستجو برای: congenital hyperinsulinism

تعداد نتایج: 124753  

2015
Michela Cappella Vanna Graziani Antonella Pragliola Alberto Sensi Khalid Hussain Claudia Muratori Federico Marchetti

Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent ...

Journal: :Annals of clinical and laboratory science 2008
Nicola Brunetti-Pierri Oluyinka O Olutoye Rubina Heptulla Nina Tatevian

We describe a patient with congenital hyperinsulinism with previously unreported pathological findings including normal to decreased number of insulin-positive cells with very few enlarged nuclei, aberrant distribution of glucagon-positive cells, and a non-insulin producing adenomatous focus of unusual morphology. Molecular analysis showed that the patient was a compound heterozygote for two mu...

2017
Kae Morishita Chika Kyo Takako Yonemoto Rieko Kosugi Tatsuo Ogawa Tatsuhide Inoue

Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was ...

2015
Emine Çamtosun Sarah E. Flanagan Sian Ellard Zeynep Şıklar Khalid Hussain Pınar Kocaay Merih Berberoğlu

Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. The long-term and detailed clinical progression of the disease is largely unknown with almost 40 patients reported and only a few patients described clinically. We present clinical and laboratory ...

2016
Pritesh Patel Pooja Patel Sachin Shah

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns and infants. It is characterized by the unregulated secretion of insulin from pancreatic Bcells in relation to blood glucose concentration. We reported the case of full term, appropriate for gestational age newborn suffered from CHI and developed severe and persistent hypoglycemia which unresponsive...

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