- Diazoxide-Associated Pulmonary Hyperten sion in an Infant with Beck with-Wiedemann Syndrome: A Case Report
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Ryu JH, Kang D, Lee J, Ko JM, Jung YH, Kim JH, Choi CW
- KMID: 2527755
- Perinatology.
- 2022 Mar;33(1):37-42.
- doi: 10.14734/PN.2022.33.1.37
Diazoxide, an ATP-sensitive potassium channel opener, has been used as 1st line treatment for hyperinsulinemic hypoglycemia. As congenital hyperinsulinism is the most common cause of hyperinsulinemic hypoglycemia, diazoxide is more... -
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- Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
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Mooij CF, Tacke CE, van Albada ME, Barthlen W, Bikker H, Mohnike K, Oomen MW, van Trotsenburg AP, Zwaveling-Soonawala N
- KMID: 2523835
- Ann Pediatr Endocrinol Metab.
- 2021 Dec;26(4):278-283.
- doi: 10.6065/apem.2142010.005
ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsulinism (CHI). Somatostatin analogues are considered as secondline treatment in diazoxide-unresponsive cases. Current treatment protocols include the first-generation... -
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- Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
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Mouron-Hryciuk J, Stoppa-Vaucher S, Busiah K, Bouthors T, Antoniou MC, Jacot E, Brusgaard K, Christesen HT, Hussain K, Dwyer A, Roth-Kleiner M, Hauschild M
- KMID: 2514154
- Ann Pediatr Endocrinol Metab.
- 2021 Mar;26(1):60-65.
- doi: 10.6065/apem.2040042.021
Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel... -
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- Tracer Accumulation in Relation to Venous Thrombus on ¹â¸F-DOPA PET/CT in a Case of Persistent Hyperinsulinemic Hypoglycemia of Infancy
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Arora S, Damle NA, Passah A, Sharma R, Goyal H, Arunraj ST, Gupta P, Jana M
- KMID: 2448103
- Nucl Med Mol Imaging.
- 2019 Apr;53(2):148-151.
- doi: 10.1007/s13139-018-00568-5
¹â¸F-DOPA PET/CT is commonly done in patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) to look for any focal lesion in the pancreas.We present the findings in a 20-day-old neonate... -
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- Images from ¹â¸F-DOPA Scan in Congenital Hyperinsulinism: Not Always a Clue for Diagnosis
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Maines E, Giacomello L, D'Onofrio , Salgarello M, Gaudino R, Baggio L, Bordugo A
- KMID: 2403513
- Nucl Med Mol Imaging.
- 2017 Dec;51(4):362-363.
- doi: 10.1007/s13139-016-0434-9
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in childhood (Horm Res 70:65-72, 2008; J Clin Endocr Metab 93:869-875, 2008). ¹â¸â»Fluoro-L-dihydroxy-phenylalanine (¹â¸F-DOPA) positron emission tomography (PET) can... -
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- Congenital hyperinsulinism: diagnostic and management challenges in a developing country – case report
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John CM, Agarwal P, Govindarajulu S, Sundaram S, Senniappan S
- KMID: 2400785
- Ann Pediatr Endocrinol Metab.
- 2017 Dec;22(4):272-275.
- doi: 10.6065/apem.2017.22.4.272
Management of congenital hyperinsulinemia of infancy (CHI) is challenging. A 4-month-old female infant with persistent hypoglycemia and elevated insulin levels was diagnosed with CHI. Gallium-68 DOTANOC positron emission tomography/computed tomography... -
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- A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
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Park JS, Lee HJ, Park CH
- KMID: 2362271
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S116-S120.
- doi: 10.3345/kjp.2016.59.11.S116
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation... -
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- A Case of 2-Month-Old Infant with Persistent Hyperinsulinemic Hypoglycemia Presenting as Atonic Seizure
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Kim JW, Kim DH, Kim SS
- KMID: 1910339
- Soonchunhyang Med Sci.
- 2014 Jun;20(1):56-59.
Congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. It is caused by an inappropriate insulin secretion from the pancreatic beta-cells secondary to various... -
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