نتایج جستجو برای: congenital hyperinsulinism
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BACKGROUND Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (which encode the SUR/KIR6.2 components of the pancreatic β-cell KATP channel) whereas focal CHI is d...
Results Five infants were reported. Hypoglycaemic seizure was the commonest presenting feature. All had detectable insulin level (>5 mU/l) during hypoglycaemic episodes and high glucose requirement (>10 mg/kg/min). Three patients were found to have genetic mutation associated with CH. Patient 1 had hyperammonaemia hyperinsulinism syndrome and corresponded missense mutation of GLUD1 gene. For pa...
BACKGROUND The term congenital hyperinsulinism (CHI) comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia. OBJECTIVE To evaluate the clinical presentation, diagnostic criteria, treatment and long-term follow-up in a large cohort of CHI patients. PATIENTS The data from 114 patients from different hospitals were obtain...
BACKGROUND Congenital hyperinsulinism (CHI) is a rare but severe disorder of hypoglycemia in children, often complicated by brain injury. In CHI, the long-term prevention of hypoglycemia is dependent on reliable enteral intake of glucose. However, feeding problems (FPs) often impede oral glucose delivery, thereby complicating the management of hypoglycemia. FPs have not been systematically char...
BACKGROUND Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. AIM To characterise the clinical and molecular aspects of a large cohort of patients with CHI. METHODOLOGY Three hundred patients were recruited and clinical information was collected before genotypi...
The decision to withdraw or withhold life supporting treatment in moribund patients is difficult under any circumstances. When the patient becomes incompetent to clarify their wishes regarding continued maintenance in long-term facilities, surrogates sometimes cannot agree, further clouding the issue. We examine a case where the State's interests come into play, forcing a controversial resolution.
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