Abstract
Hyperinsulinaemic hypoglycaemia (HH) is due to the unregulated secretion of insulin from pancreatic β-cells. A rapid diagnosis and appropriate management of these patients is essential to prevent the potentially associated complications like epilepsy, cerebral palsy and neurological impairment. The molecular basis of HH involves defects in key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and UCP2) which regulate insulin secretion. The most severe forms of HH are due to loss of function mutations in ABCC8/KCNJ11 which encode the SUR1 and KIR6.2 components respectively of the pancreatic β-cell K(ATP) channel. At a histological level there are two major forms (diffuse and focal) each with a different genetic aetiology. The diffuse form is inherited in an autosomal recessive (or dominant) manner whereas the focal form is sporadic in inheritance and is localised to a small region of the pancreas. The focal form can now be accurately localised pre-operatively using a specialised positron emission tomography scan with the isotope Fluroine-18L-3, 4-dihydroxyphenyalanine (18F-DOPA-PET). Focal lesionectomy can provide cure from the hypoglycaemia. However the diffuse form is managed medically or by near total pancreatectomy (with high risk of diabetes mellitus). Recent advances in molecular genetics, imaging with 18F-DOPA-PET/CT and novel surgical techniques have changed the clinical approach to patients with HH.
Highlights
Secretary Vesicles Insulin secretion2. Diffuse The diffuse form affects the whole of pancreas with variable involvement of the islets
ABSTRACTHyperinsulinaemic hypoglycaemia (HH) is characterized by unregulated insulin secretion from pancreatic β-cells
This review provides an overview of the clinical presentation, molecular basis, diagnostic tools, and management of HH with an emphasis on congenital forms of hyperinsulinism (CHI)
Summary
2. Diffuse The diffuse form affects the whole of pancreas with variable involvement of the islets. The pattern of pancreatic involvement may be of the diffuse type but may be confined to one large area of the pancreas. A new form of HI that is characterized by a morphological mosaicism and a particular histology of limited islet nuclear enlargement (LINE) has been reported [46]. Over a 25-year period, 217 cases of operated persistent HI were reviewed, of which 16 cases (7.4%) did not fit with the usual types. They displayed peculiar pancreatic morphologies and had a distinct clinical presentation, with normal birth weight in the majority of the cases, a late onset of HH and a relative sensitivity. Follow-up 3 to 6 months Trial off DZX when
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