Konjenital Hiperinsülinizmde Tanı ve Tedavi
Özet
Konjenital hiperinsülinemik hipoglisemi, pankreastan kontrolsüz insülin salınımı sonucu ortaya çıkan nadir bir hastalıktır. Hiperinsülinemik hipoglisemi (HI), plazma glikoz seviyesi düşükken uygunsuz insülin salınımı sonucu yenidoğan ve çocuklarda şiddetli ve kalıcı hipoglisemiye neden olmaktadır. HI’nin hızlı teşhis ve tedavisi hipoglisemik beyin hasarı ve uzun vadeli nörolojik komplikasyonlardan kaçınmak açısından çok önemlidir. Özellikle moleküler genetikteki gelişmeler, görüntüleme teknikler (18F-DOPA pozitron emisyon tomografisi/bilgisayarlı tomografi taraması), tıbbi tedavi ve cerrahi gelişmeler (laparoskopik ve açık pankreatektomi) HI’li hastalarda tanı ve tedavi yönetimini değiştirmiş olup prognozu iyileştirmiştir. Konjenital hiperinsülinizm erken tanı,tedavi algoritması ve tanı, tedavideki yeniliklerden bahsedilmektedir.
Referanslar
Demirbilek H, Hussain K. Congenital Hyperinsulinism: Diagnosis and Treatment Update. J Clin Res Pediatr Endocrinol. 2017; 30(9); 69-87.
De León-Crutchlow DD, Stanley CA Congenital Hyperinsulinism. New York,USA: Springer International Publishing; 2019.
Yau D, Laver TW, Dastamani A et al. Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389. PLoS One. 2020 Feb 1;15(2).
James C, Kapoor RR, Ismail D et al. The genetic basis of congenital hyperinsulinism. Vol. 46, Journal of Medical Genetics. 2009;46(5):289-299.
Berger C, Zdzieblo D. Glucose transporters in pancreatic islets. European Journal of Physiology 2020;472(9):1249-1272 https://doi.org/10.1007/s00424-020-02383-4
Senniappan S, Arya V, Hussain K. The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian J Endocrinol Metab. 2013;17(1):19-30.
Lord K, Dzata E, Snider KE et al. Clinical presentation and management of children with diffuse and focal hyperinsulinism: A review of 223 cases. Journal of Clinical Endocrinology and Metabolism. 2013;98(11):1786-1789. doi:10.1210/jc.2013-2094
Ferrara C, Patel P, Becker S et al. Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. Journal of Pediatrics. 2016;168:212-219. doi:10.1016/j.jpeds.2015.09.045.
De León DD, Stanley CA. Determination of insulin for the diagnosis of hyperinsulinemic hypoglycemia. Best Pract Res Clin Endocrinol Metab. 2013;27(6):763-769. doi:10.1016/j.beem. 2013.06.005
Snider KE, Becker S, Boyajian L et al. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. 2013 Feb;98(2); 1161–1169.
Hawkes CP, de Leon DD, Rickels MR. Novel Preparations of Glucagon for the Prevention and Treatment of Hypoglycemia. Vol. 19, Curr Diab Rep. 2019;19(10):97. doi:10.1007/s11892-019-1216-4
Worth C, Hall C, Wilson S et al. Delayed Resolution of Feeding Problems in Patients With Congenital Hyperinsulinism. Front Endocrinol (Lausanne). 2020;11:143. doi:10.3389/fendo. 2020.00143
Drash A, Volff F. Metabolism Clinical and Experimental Drug Therapy in Leucine-Sensitive Hypoglycemia. Metabolism. 1964;;964;13:487-492. doi:10.1016/0026-0495(64)90133-7
Herrera A, Ellen Vajravelu M, Givler S et al. Prevalence of adverse events in children with congenital hyperinsulinism treated with diazoxide. Journal of Clinical Endocrinology and Metabolism. 2018;103(12):4235–372.
Keyes ML, Healy H, Sparger KA et al. Necrotizing enterocolitis in neonates with hyperinsulinemic hypoglycemia treated with diazoxide. Pediatrics. 2021;147(2):e20193202. doi:10.1542/peds.2019-3202
Prado LA, Castro M, Weisz DE et al. Necrotising enterocolitis in newborns receiving diazoxide. Arch Dis Child Fetal Neonatal Ed. 2021;106(3):306-310. doi:10.1136/archdischild-2020-319057
Ribeiro MJ, de Lonlay ; Pascale, Thierry Delzescaux et al. Characterization of Hyperinsulinism in Infancy Assessed with PET and 18 F-Fluoro-L-DOPA, The Journal of nuclear medıcıne, 2005;46(4):560-566.
Otonkoski T, Nä Ntö -Salonen K, Seppä M et al. Noninvasive Diagnosis of Focal Hyperinsulinism of Infancy With [ 18 F]-DOPA Positron Emission Tomography . Diabetes. 2006;55(1):13-18.
Hardy OT, Hernandez-Pampaloni M, Saffer JR et al. Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. 2007;92(12):4706-4711. doi:10.1210/jc.2007-1637
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(2):388-393. doi:10.1016/j.jpedsurg.2012. 11.025
Barthlen W, Blankenstein O, Mau H et al. Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. 2008;93(3):869-875. doi:10.1210/jc.2007-2036
Stanley CA, Thornton PS, Ganguly A et al. Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation. Journal of Clinical Endocrinology and Metabolism. 2004;89(1):288-296. doi:10.1210/jc.2003-030965
Adzick NS, de Leon DD, States LJ et al. Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. J Pediatr Surg. 2019;54(1):27-32. doi:10.1016/j.jpedsurg.2018.10.030
Palladino AA, Stanley CA. A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. Semin Pediatr Surg. 2011;20(1):32-37. doi:10.1053/j.sempedsurg.2010.10.008
Vajravelu ME, Congdon M, Mitteer L et al. Continuous intragastric dextrose: A therapeutic option for refractory hypoglycemia in congenital hyperinsulinism. Horm Res Paediatr. 2019;91(1):62-68. doi:10.1159/000491105.
Hirsch HJ, Loo S, Evans N, Crigler JF, Filler RM, Gabbay KH. Hypoglycemia of infancy and nesidioblastosis. Studies with somatostatin. N Engl J Med. 1977;296(23):1323-1326. doi:10.1056/NEJM197706092962305
Hawkes CP, Adzick NS, Palladino AA et al. Late presentation of fulminant necrotizing enterocolitis in a child with hyperinsulinism on octreotide therapy. Horm Res Paediatr. 2016;86(2):131-136. doi:10.1159/000443959
Laje P, Halaby L, Adzick NS et al. Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. Pediatr Diabetes. 2010;11(2):142-147. doi:10.1111/j.1399-5448.2009.00547.x
McMahon AW, Wharton GT, Thornton P et al. Octreotide use and safety in infants with hyperinsulinism. Pharmacoepidemiol Drug Saf. 2017;26(1):26-31. doi:10.1002/pds.4144
Modan-Moses D, Koren I, Mazor-Aronovitch K et al. Treatment of congenital hyperinsulinism with lanreotide acetate (Somatuline Autogel). In: Journal of Clinical Endocrinology and Metabolism. 2011;96(8):2312-2317. doi:10.1210/jc.2011-0605
Darendeliler F, Demirkol D, Bundak R et al.Successful Therapy with Calcium Channel Blocker (Nifedipine) in Persistent Neonatal Hyperinsulinemic Hypoglycemia of Infancy. Vol. 12, London Journal of Pediatric Endocrinology & Metabolism. 1999;12(6):873-878. doi:10.1515/jpem.1999.12.6.873
Güemes M, Shah P, Silvera S et al. Assessment of nifedipine therapy in hyperinsulinemic hypoglycemia due to mutations in the abcc8 gene. Journal of Clinical Endocrinology and Metabolism. 2017;102(3):822-830. doi:10.1210/jc.2016-2916
Szymanowski M, Estebanez MS, Padidela R, Han B et al. MTOR inhibitors for the treatment of severe congenital hyperinsulinism: Perspectives on limited therapeutic success. Journal of Clinical Endocrinology and Metabolism. 2016;101(12):4719-4729. doi:10.1210/jc.2016-2711.
Senniappan S, Alexandrescu S, Tatevian N et al. Sirolimus Therapy in Infants with Severe Hyperinsulinemic Hypoglycemia. New England Journal of Medicine. 2014;370(12):1131-1137. doi:10.1056/NEJMoa1310967.
Banerjee I, de Leon D, Dunne MJ. Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient. Orphanet J Rare Dis. 2017;12(1):70. doi:10.1186/s13023-017-0621-5
De León-Crutchlow DD, Stanley CA Congenital Hyperinsulinism. New York,USA: Springer International Publishing; 2019.
Yau D, Laver TW, Dastamani A et al. Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389. PLoS One. 2020 Feb 1;15(2).
James C, Kapoor RR, Ismail D et al. The genetic basis of congenital hyperinsulinism. Vol. 46, Journal of Medical Genetics. 2009;46(5):289-299.
Berger C, Zdzieblo D. Glucose transporters in pancreatic islets. European Journal of Physiology 2020;472(9):1249-1272 https://doi.org/10.1007/s00424-020-02383-4
Senniappan S, Arya V, Hussain K. The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian J Endocrinol Metab. 2013;17(1):19-30.
Lord K, Dzata E, Snider KE et al. Clinical presentation and management of children with diffuse and focal hyperinsulinism: A review of 223 cases. Journal of Clinical Endocrinology and Metabolism. 2013;98(11):1786-1789. doi:10.1210/jc.2013-2094
Ferrara C, Patel P, Becker S et al. Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. Journal of Pediatrics. 2016;168:212-219. doi:10.1016/j.jpeds.2015.09.045.
De León DD, Stanley CA. Determination of insulin for the diagnosis of hyperinsulinemic hypoglycemia. Best Pract Res Clin Endocrinol Metab. 2013;27(6):763-769. doi:10.1016/j.beem. 2013.06.005
Snider KE, Becker S, Boyajian L et al. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. 2013 Feb;98(2); 1161–1169.
Hawkes CP, de Leon DD, Rickels MR. Novel Preparations of Glucagon for the Prevention and Treatment of Hypoglycemia. Vol. 19, Curr Diab Rep. 2019;19(10):97. doi:10.1007/s11892-019-1216-4
Worth C, Hall C, Wilson S et al. Delayed Resolution of Feeding Problems in Patients With Congenital Hyperinsulinism. Front Endocrinol (Lausanne). 2020;11:143. doi:10.3389/fendo. 2020.00143
Drash A, Volff F. Metabolism Clinical and Experimental Drug Therapy in Leucine-Sensitive Hypoglycemia. Metabolism. 1964;;964;13:487-492. doi:10.1016/0026-0495(64)90133-7
Herrera A, Ellen Vajravelu M, Givler S et al. Prevalence of adverse events in children with congenital hyperinsulinism treated with diazoxide. Journal of Clinical Endocrinology and Metabolism. 2018;103(12):4235–372.
Keyes ML, Healy H, Sparger KA et al. Necrotizing enterocolitis in neonates with hyperinsulinemic hypoglycemia treated with diazoxide. Pediatrics. 2021;147(2):e20193202. doi:10.1542/peds.2019-3202
Prado LA, Castro M, Weisz DE et al. Necrotising enterocolitis in newborns receiving diazoxide. Arch Dis Child Fetal Neonatal Ed. 2021;106(3):306-310. doi:10.1136/archdischild-2020-319057
Ribeiro MJ, de Lonlay ; Pascale, Thierry Delzescaux et al. Characterization of Hyperinsulinism in Infancy Assessed with PET and 18 F-Fluoro-L-DOPA, The Journal of nuclear medıcıne, 2005;46(4):560-566.
Otonkoski T, Nä Ntö -Salonen K, Seppä M et al. Noninvasive Diagnosis of Focal Hyperinsulinism of Infancy With [ 18 F]-DOPA Positron Emission Tomography . Diabetes. 2006;55(1):13-18.
Hardy OT, Hernandez-Pampaloni M, Saffer JR et al. Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. 2007;92(12):4706-4711. doi:10.1210/jc.2007-1637
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(2):388-393. doi:10.1016/j.jpedsurg.2012. 11.025
Barthlen W, Blankenstein O, Mau H et al. Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. 2008;93(3):869-875. doi:10.1210/jc.2007-2036
Stanley CA, Thornton PS, Ganguly A et al. Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation. Journal of Clinical Endocrinology and Metabolism. 2004;89(1):288-296. doi:10.1210/jc.2003-030965
Adzick NS, de Leon DD, States LJ et al. Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. J Pediatr Surg. 2019;54(1):27-32. doi:10.1016/j.jpedsurg.2018.10.030
Palladino AA, Stanley CA. A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. Semin Pediatr Surg. 2011;20(1):32-37. doi:10.1053/j.sempedsurg.2010.10.008
Vajravelu ME, Congdon M, Mitteer L et al. Continuous intragastric dextrose: A therapeutic option for refractory hypoglycemia in congenital hyperinsulinism. Horm Res Paediatr. 2019;91(1):62-68. doi:10.1159/000491105.
Hirsch HJ, Loo S, Evans N, Crigler JF, Filler RM, Gabbay KH. Hypoglycemia of infancy and nesidioblastosis. Studies with somatostatin. N Engl J Med. 1977;296(23):1323-1326. doi:10.1056/NEJM197706092962305
Hawkes CP, Adzick NS, Palladino AA et al. Late presentation of fulminant necrotizing enterocolitis in a child with hyperinsulinism on octreotide therapy. Horm Res Paediatr. 2016;86(2):131-136. doi:10.1159/000443959
Laje P, Halaby L, Adzick NS et al. Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. Pediatr Diabetes. 2010;11(2):142-147. doi:10.1111/j.1399-5448.2009.00547.x
McMahon AW, Wharton GT, Thornton P et al. Octreotide use and safety in infants with hyperinsulinism. Pharmacoepidemiol Drug Saf. 2017;26(1):26-31. doi:10.1002/pds.4144
Modan-Moses D, Koren I, Mazor-Aronovitch K et al. Treatment of congenital hyperinsulinism with lanreotide acetate (Somatuline Autogel). In: Journal of Clinical Endocrinology and Metabolism. 2011;96(8):2312-2317. doi:10.1210/jc.2011-0605
Darendeliler F, Demirkol D, Bundak R et al.Successful Therapy with Calcium Channel Blocker (Nifedipine) in Persistent Neonatal Hyperinsulinemic Hypoglycemia of Infancy. Vol. 12, London Journal of Pediatric Endocrinology & Metabolism. 1999;12(6):873-878. doi:10.1515/jpem.1999.12.6.873
Güemes M, Shah P, Silvera S et al. Assessment of nifedipine therapy in hyperinsulinemic hypoglycemia due to mutations in the abcc8 gene. Journal of Clinical Endocrinology and Metabolism. 2017;102(3):822-830. doi:10.1210/jc.2016-2916
Szymanowski M, Estebanez MS, Padidela R, Han B et al. MTOR inhibitors for the treatment of severe congenital hyperinsulinism: Perspectives on limited therapeutic success. Journal of Clinical Endocrinology and Metabolism. 2016;101(12):4719-4729. doi:10.1210/jc.2016-2711.
Senniappan S, Alexandrescu S, Tatevian N et al. Sirolimus Therapy in Infants with Severe Hyperinsulinemic Hypoglycemia. New England Journal of Medicine. 2014;370(12):1131-1137. doi:10.1056/NEJMoa1310967.
Banerjee I, de Leon D, Dunne MJ. Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient. Orphanet J Rare Dis. 2017;12(1):70. doi:10.1186/s13023-017-0621-5
Sayfalar
35-44
Gelecek
17 Nisan 2023
Telif Hakkı (c) 2023 Akademisyen Kitap Portalı
Lisans
LisansNasıl Atıf Yapılır
1.
Bolaç Özyılmaz LG. Konjenital Hiperinsülinizmde Tanı ve Tedavi. Içinde: Alabaz D, editör. Güncel Çocuk Sağlığı ve Hastalıkları V [Internet]. Türkiye: Akademisyen Yayınevi Kitap DOI Portalı; 2023 [a.yer 15 Temmuz 2026]. ss. 35-44. Erişim adresi: https://omp35.books.akademisyen.net/index.php/akya/catalog/book/2565/chapter/13177
