The outcome in Australian children with hyperinsulinism of infancy: early extensive surgery in severe cases lowers risk of diabetes

Jack, Michelle; Greer, Ristan M.; Thomsett, M. J.; Walker, Rosslyn M.; Bell, John R.; Choong, Catherine S.; Cowley, David; Herington, Adrian C.; Cotterill, Andrew

doi:10.1046/j.1365-2265.2003.01725.x

Cited by 39 publications

(46 citation statements)

References 32 publications

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“…Indeed, de Lonlay-Debeney et al 10 reported normoglycemia among 21 neonates with focal hyperinsulinism who underwent partial pancreatectomy, whereas 15 of the 30 neonates with diffuse hyperinsulinism who underwent total pancreatectomy developed hyperglycemia and 19 of 30 developed exocrine pancreatic insufficiency in the subsequent 4 years. Similarly, large follow-up studies of patients with PHHI noted diabetes mellitus in Ͼ25% of cases with near-total pancreatectomy 14,19,20 and exocrine pancreatic insufficiency in 20% of cases. 2,14 Laparoscopic enucleation of a focal lesion has not been reported previously, whereas laparoscopic subtotal pancreatectomy for treatment of PHHI was reported once.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to the aforementioned increased incidences of diabetes mellitus and exocrine pancreatic insufficiency related to subtotal pancreatectomy, up to 50% of patients with PHHI experience psychomotor or mental retardation. 19,20,22 Reasons include poor or delayed diagnosis of the condition or delayed surgery. 20 Early surgery (Ͻ100 days of age) is generally associated with improved neurodevelopmental outcomes and fewer endocrine and exocrine disturbances.…”

Section: Discussionmentioning

confidence: 99%

“…19,20,22 Reasons include poor or delayed diagnosis of the condition or delayed surgery. 20 Early surgery (Ͻ100 days of age) is generally associated with improved neurodevelopmental outcomes and fewer endocrine and exocrine disturbances. 20 The 2 patients described in this article are the first and only patients at our institution who underwent laparoscopic exploration for PHHI.…”

Section: Discussionmentioning

confidence: 99%

“…20 Early surgery (Ͻ100 days of age) is generally associated with improved neurodevelopmental outcomes and fewer endocrine and exocrine disturbances. 20 The 2 patients described in this article are the first and only patients at our institution who underwent laparoscopic exploration for PHHI. Although our experience is limited, our observations show that laparoscopic investigation is worthwhile and feasible for any patient with PHHI for whom medical treatment is insufficient to control insulin secretion.…”

Section: Discussionmentioning

confidence: 99%

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Laparoscopic Diagnosis and Cure of Hyperinsulinism in Two Cases of Focal Adenomatous Hyperplasia in Infancy

Vroede¹

2004

Pediatrics

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ABSTRACT. Persistent hyperinsulinemic hypoglycemia of infancy or congenital hyperinsulinism of the neonate is a rare condition that may cause severe neurologic damage if the disease is unrecognized or inadequately treated. Current treatment aims to restore normal blood glucose levels by providing a carbohydrate-enriched diet and drugs that inhibit insulin secretion. If medical treatment fails, then surgery is required. Because congenital hyperinsulinism may be caused either by diffuse involvement of pancreatic ␤-cells or by a focal cluster of abnormal ␤-cells, the extent of pancreatectomy varies. We report on 2 patients with a focal form of the disease for whom diagnosis was made with laparoscopy. P ersistent hyperinsulinemic hypoglycemia of infancy (PHHI), or congenital hyperinsulinism, is a rare disease characterized by inappropriate insulin secretion in the presence of hypoglycemia. Severe neurodevelopmental morbidity among these patients is reportedly attributable to late diagnosis and/or inability to control the profound hypoglycemia. Most cases are attributable to mutations in the genes coding for the subunits of the adenosine triphosphate-sensitive potassium (K ATP ) channels found in pancreatic ␤-cells, sulfonylurea receptor (SUR)1 (ABCC8) and potassium inward rectifier (Kir)6.2 (KCNJ11). 1 In rarer cases of PHHI, mutations in the glucokinase gene (GCK), glutamate dehydrogenase gene (GLUD1), and short-chain hydroxyacylcoenzyme A dehydrogenase (HADHSC) gene are pathogenic and act mainly by subverting the operation of K ATP channels. 2,3 Treatment is directed toward normoglycemia, through provision of adequate carbohydrate coverage and the use of drugs that interact with the ion channels to lower insulin secretion. 4 Diazoxide, octreotide, and calcium channel blockers are available, but diazoxide is the drug of choice. PHHI is a heterogeneous disease; in a few cases, it may be transient and mild, requiring only short-term medical treatment. In other cases, including those involving mutations in glucokinase, glutamate dehydrogenase, and short-chain hydroxyacylcoenzyme A dehydrogenase genes, diazoxide and appropriate diet are required for a longer time but are very effective in controlling hypoglycemia. 2,3,5,6 However, almost 80% of neonates with congenital hyperinsulinism fail to respond to medical treatment and require near-total pancreatectomy. 5 This procedure leads to important digestive and endocrine morbidities, whereas removal of insufficient amounts of the pancreas increases the duration of hypoglycemia, necessitates reintervention, and enhances the risk of hypoglycemic neuronal injury.The observations in 1975 7 and then in 1989 8 that PHHI may be caused by either diffuse or focal abnormalities of ␤-cells changed the surgical approach and led to the development of radiologic procedures to identify these focal forms. We now report on 2 children with PHHI for whom a focal lesion was diagnosed during laparoscopy and for whom laparoscopic enucleation was curative. CASE REPORTS Patient 1Patient 1 is the...

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Laparoscopic Diagnosis and Cure of Hyperinsulinism in Two Cases of Focal Adenomatous Hyperplasia in Infancy

Vroede¹

2004

Pediatrics

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“…The combination of hypoglycaemia and lack of ketones places infants at high risk of neurological damage [128]. Thus rapid diagnosis and appropriate management are critical to prevent poor neurodevelopmental outcomes [129].…”

Section: Clinical Featuresmentioning

confidence: 99%

Monogenic disorders of glucose-stimulated insulin secretion: massively parallel sequencing approaches

Johnson¹

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Hypoglycemia: Assessment and Management

Cotterill

Cowley

Greer

2009

Brook's Clinical Pediatric Endocrinology

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The outcome in Australian children with hyperinsulinism of infancy: early extensive surgery in severe cases lowers risk of diabetes

Cited by 39 publications

References 32 publications

Laparoscopic Diagnosis and Cure of Hyperinsulinism in Two Cases of Focal Adenomatous Hyperplasia in Infancy

Laparoscopic Diagnosis and Cure of Hyperinsulinism in Two Cases of Focal Adenomatous Hyperplasia in Infancy

Monogenic disorders of glucose-stimulated insulin secretion: massively parallel sequencing approaches

Hypoglycemia: Assessment and Management

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