Congenital Hyperinsulinism – Most Frequent Cause of Persistent Hypoglycemia in Newborns and Infants

Česká verzia

Authors: M. Rosoľanková; E. Franková
Authors place of work: Oddelenie patologických novorodencov a JIRS I. DK, DFNsP, Bratislava zástupca prednostu MUDr. E. Franková
Published in the journal: Čes-slov Pediat 2010; 65 (9): 516-522.
Category: Přehledový článek

Summary

Congenital hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in newborns and infants. The majority of cases refer to inherited disorders of insulin secretion. The most prevalent are the inactivating mutations of genes for Kir6.2 and SUR1 subunits of potassium channel of the B-cells. The true etiology of CHI can be identified only by methods of DNA analysis, which could also distinguish the focal and diffuse form. The treatment is intended to normalize blood glucose and to prevent the neurological consequences.

Key words:
persistent hypoglycemia, congenital hyperinsulinism, DNA analysis, ¹⁸F-DOPA PET CT

Zdroje

1. Kelly P, Stanley CHA, Sarafoglou K, et al. Pediatric Endocrinology and Inborn Errors of Metabolism. McGraw-Hill, 2009: 39–50.

2. Thornton PS. Congenital Hyperinsulinism. Children´s Hospital of Philadelphia, http://www. sur1.org/hyperinsulism.htm.

3. Barthlen W, Blankenstein O, Mau H, et al. Evaluation of 18F-DOPA PET CT for surgery in focal congenital hyperinsulinism. JCEM 2008;;93(3): 869–875.

4. Sweet IR, Najafi H, Matschinsky FM, et al. Annotated questions and answers about glucose metabolism and insulin secretion of B cells. Diabetes Rev. 1996;;4: 130–144.

5. Kelly A, Li CH, Matter A, et al. Amino acid-stimulated insulin secretion: lessons learned from congenital hyperinsulinism. Pediatric Academic Society´s Annual Meeting, 2004.

6. Fourtner SH, Stanley CHA, Kelly A, et al. Protein sensitivity not synonymous with leucine sensitivity. The Endocrine Society´s, 85th Annual Meeting, 2003.

7. Staník J, Rosoľanková M, Gašperíková D, et al. Prínos DNA analýzy pre diagnostiku a liečbu perzistujúcich hypoglykémií u detí. Čes.-slov. Pediat. 2009;;64(11): 559–560.

8. Huopio H, Reimann F, Ashfield R, et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J. Clin. Invest. 2000; 106: 897–906.

9. Magge SN, Shyng SL, McMullen C, et al. Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the B cell sulfonylurea receptor. JCEM 2004; 89: 4450–4456.

10. Thornton PS, McMullen C, Ganguly A, et al. Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. Diabetes 2003; 52: 2403–2410.

11. Verkarre V, Fournet JCH, De Lonlay P, et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J. Clin. Invest. 1998; 102: 1286–1291.

12. Pinney SE, MacMullen C, Becker S, et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant K ATP channel mutations. J. Clin. Invest. 2008; 118: 2877–2886.

13. De Lonlay P, Fournet JCH, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J. Clin. Invest. 1997; 100: 802–807.

14. Zschocke J, Hoffmann GF, et al. Vademecum Metabolicum. 2nd ed. Germany, Schattauer: Milupa, 2004; 109–110.

15. Menni F, De Lonlay P, Sevin C, et al. Neurologic outcomes of 90 neonates and infants with PHH. Pediatrics 2001; 107(3): 476–478.

16. Otonkoski T, Nanto-Salonen K, Hussain K, et al. Noninvasive diagnosis of focal hyperinsulinism of infancy with 18F-DOPA PET. Diabetes 2006; 55: 13–18.

17. Ribeiro MJ, Boddaert N, De Lonlay P, et al. The added value of 18F-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children. Eur. J. Nucl. Med. Mol. Imaging 2007; 34: 2120–2128.

18. Hardy OT, Hernandez-Pampaloni M, Saffer JR, et al. Accuracy of 18F- DOPA positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. JCEM 2007; 92: 4706–4711.

19. Hussain K, Seppanen M, Nanto-Salonen K, et al. The diagnosis of ectopic focal hyperinsulinism of infancy with 18F-DOPA positron emission tomography. JCEM 2006; 91: 2839–2842.

20. Peranteau WH, Bathaii SM, Pawel B, et al. Multiple ectopic lesions of focal islet adenomatosis identified by PET scan in an infant with congenital hypeinsulinism. J. Pediatr. Surg. 2007; 42: 188–192.

21. Giurgea I, Sempoux CH, Bellanne- Chantelot CH, et al. The Knudson´s two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. JCEM 2006; 91: 4118–4123.

22. De Lonlay P, Simon A, Galmiche-Rolland L, et al. Neonatal hyperinsulinism: clinicopathologic correlation. Hum. Pathol. 2007; 38: 387–399.

23. Kassem SA, Ariel I, Thornton PS, et al. B cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy. Diabetes 2000; 49: 1325–1333.

24. Kubota A, Yonekura T, Usui N, et al. Two cases of persistent hyperinsulinemic hypoglycemia that showed spontaneous regression and maturation of the Langerhans islets. J. Pediatr. Surg. 2000; 35: 1661–1662.

25. Stanley CHA, Adzick NS, Thornton PS, et al. A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. J. Pediatr. Surg. 2004; 39: 270–275.

26. Suchi M, Courtney M, Thornton PS, et al. Congenital hyperinsulinism – intraoperative biopsy interpretation can direct the extent of pancreatectomy. Am. J. Surg. Pathol. 2004; 28: 1326–1335.

27. McAndrew HF, Smith V, Spitz L, et al. Surgical complications of pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy. J. Pediatr. Surg. 2003; 38: 13–16.

28. De Lonlay-Debeney P, Poggi-Trvert F, Fournet JCH, et al. Clinical features of 52 neonates with hyperinsulinism. N. Engl. J. Med. 1999; 340: 1169–1175.

29. Crétolle C, Fekete CN, Jan D, et al. Partial elective pancreatectomy is curative in focal form of PHHI. J. Pediatr. Surg. 2002; 37: 155–158.

30. Meissner T, Wendel U, Burgard P, et al. Long-term follow up of 114 patients with congenital hyperinsulinism. Eur. J. Endocrinol. 2003; 149: 43–51.