eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
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2/2017
vol. 68
 
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abstract:
Review paper

The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) – literature review

Adam M. Kowalewski, Łukasz Szylberg, Anna Kasperska, Andrzej Marszałek

Pol J Pathol 2017; 68 (2): 97-101
Online publish date: 2017/09/01
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Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological examination is necessary for a definitive diagnosis. CHI is a disorder with three histopathological variants: focal CHI, diffuse CHI, and atypical CHI. These variants are clinically indistinguishable. According to published statistics, 0.5 to 5% of nesidioblastosis cases occur in adults. Clinical manifestation ranges from mildly symptomatic up to life-threatening hypoglycaemia. Early diagnosis and treatment are important in young and very young patients because early treatment accounts for favourable mental outcomes.
keywords:

congenital, adult, hyperinsulinism, nesidioblastosis, diagnosis, management

references:
Laidlaw GF. Nesidioblastoma, the islet tumor of the pancreas. Am J Pathol 1938; 14: 125-134.
Arnoux JB, Verkarre V, Saint-Martin C, et al. Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis 2011; 6: 63.
Kaczirek K, Niederle B. Nesidioblastosis: an old term and a new understanding. World J Surg 2004; 28: 1227-1230.
Stanley CA. Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders. J Clin Endocrinol Metab 2016; 101: 815-826.
Flanagan SE, Kapoor RR, Hussain K. Genetics of congenital hyperinsulinemic hypoglycemia. Semin Pediatr Surg 2011; 20: 13-17.
Ahn J, Lee SE, Lee ES, et al. A case of nesidioblastosis causing hypoglycaemia after delivery. Diabetes Res Clin Pract 2009; 83: e5-7.
Vieira TC, Bergamin CS, Gurgel LC, et al. Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. Pediatr Diabetes 2010; 11: 505-508.
Bellanné-Chantelot C, Saint-Martin C, Ribeiro MJ, et al. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet 2010; 47: 752-759.
Gilis-Januszewska A, Piątkowski J, Skalniak A, et al. Noninsulinoma pancreatogenous hypoglycaemia in adults – a spotlight on its genetics. Endokrynol Pol 2015; 66: 344-354.
Welters A, Lerch C, Kummer S, et al. Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers. Orphanet J Rare Dis 2015; 10: 150.
De Leon DD, Stanley CA. Congenital hypoglycemia disorders: new aspects of etiology, diagnosis, treatment and outcomes. Pediatr Diabetes 2017; 18: 3-9.
Monogenic Disorders of Insulin Secretion: Congenital Hyperinsulinism and Neonatal Diabetes March 15-16, 2012 Faculty Synopses. Pediatr Diabetes 2012; 13: 344-368.
Rahier J, Guiot Y, Sempoux C. Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism. Semin Pediatr Surg 2011; 20: 3-12.
Craig CM, Liu LF, Deacon CF, et al. Critical role for GLP-1 in symptomatic post-bariatric hypoglycaemia. Diabetologia 2017; 60: 531-540.
Szymanowski M, Estebanez MS, Padidela R, et al. mTOR inhibitors for the treatment of severe congenital hyperinsulinism: perspectives on limited therapeutic success. J Clin Endocrinol Metab 2016; 101: 4719-4729.
Le Quan Sang KH, Arnoux JB, Mamoune A, et al. Successful treatment of congenital hyperinsulinism with long-acting release octreotide. Eur J Endocrinol 2012; 166: 333-339.
García-Santos EP, del C. Manzanares-Campillo M, Padilla-Valverde D, et al. Nesidioblastosis. A case of hyperplasia of the islets of Langerhans in the adult. Pancreatology 2013; 13: 544-548.
Service GJ, Thompson GB, Service FJ, et al. Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. N Engl J Med 2005; 353: 249-254.
Anlauf M, Wieben D, Perren A, et al. Persistent hyperinsulinemic hypoglycemia in 15 adults with diffuse nesidioblastosis: diagnostic criteria, incidence, and characterization of beta-cell changes. Am J Surg Pathol 2005; 29: 524-533.
Ritz P, Vaurs C, Barigou M, et al. Hypoglycaemia after gastric bypass: mechanisms and treatment. Diabetes Obes Metab 2016; 18: 217-223.
Laje P, States LJ, Zhuang H, et al. Accuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism. J Pediatr Surg 2013; 48: 388-393.
Crétolle C, Fékété CN, Jan D, et al. Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000. J Pediatr Surg 2002; 37: 155-158.
Gillespie, Congenital Hyperinsulinism (2014). Available at: http://emedicine.medscape.com/article/923538-overview#showall (accessed December 3, 2015).
Sempoux C, Guiot Y, Jaubert F, et al. Focal and diffuse forms of congenital hyperinsulinism: the keys for differential diagnosis. Endocr Pathol 2004; 15: 241-246.
Ismail D, Smith VV, de Lonlay P, et al. Familial focal congenital hyperinsulinism. J Clin Endocrinol Metab 2011; 96: 24-28.
Fournet JC, Mayaud C, de Lonlay P, et al. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol 2001; 158: 2177-2184.
Fafoula O, Alkhayyat H, Hussain K. Prolonged hyperinsulinaemic hypoglycaemia in newborns with intrauterine growth retardation. Arch Dis Child Fetal Neonatal Ed 2006; 91: F467.
Güemes M, Hussain K. Hyperinsulinemic hypoglycemia. Pediatr Clin North Am 2015; 62: 1017-1036.
James C, Kapoor RR, Ismail D, et al. The genetic basis of congenital hyperinsulinism. J Med Genet 2009; 46: 289-299.
Lord K, Dzata E, Snider KE, et al. Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases. J Clin Endocrinol Metab 2013; 98: E1786-E1789.
Güven A, Cebeci AN, Ellard S, et al. Clinical and genetic characteristics, management and long-term follow-up of turkish patients with congenital hyperinsulinism. J Clin Res Pediatr Endocrinol 2016; 8: 197-204.
Sempoux C, Capito C, Bellanné-Chantelot C, et al. Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. J Clin Endocrinol Metab 2011; 96: 3785-3793.
Hardy OT, Hernandez-Pampaloni M, Saffer JR, et al. Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr 2007; 150: 140-145.
Abboud B, Boujaoude J. Occult sporadic insulinoma: localization and surgical strategy. World J Gastroenterol 2008; 14: 657-665.
Demeure MJ, Klonoff DC, Karam JH, et al. Insulinomas associated with multiple endocrine neoplasia type I: the need for a different surgical approach. Surgery 1991; 110: 998-1004.
Okabayashi T, Shima Y, Sumiyoshi T, et al. Diagnosis and management of insulinoma. World J Gastroenterol 2013; 19: 829-837.
Tomita T. Immunocytochemical staining for islet amyloid polypeptide in pancreatic endocrine tumors. Islets 2011; 3: 344-351.
Zumkeller W. Nesidioblastosis. Endocr Relat Cancer 1999; 6: 421-428.
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