Neonatal hyperinsulinism: clinicopathologic correlation

Delonlay, Pascale; Simon, A; Galmiche-Rolland, Louise; Giurgea, Irina; Verkarre, Virginie; Aigrain, Yves; Santiago-Ribeiro, Maria-João; Polak, M.; Robert, J; Bellanné‐Chantelot, Christine; Brunelle, Françis; Nihoul‐Feketé, Claire; Jaubert, Françis

doi:10.1016/j.humpath.2006.12.007

Cited by 35 publications

(26 citation statements)

References 70 publications

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“…After resection of the accumulation in the uncinate process, the diffuse involvement of the remaining pancreas became apparent. There are only a few cases described so far that really showed two or more independent focal lesions within an otherwise normal pancreas (27,28,30). Most cases of "newly " detected focal lesions after surgery are probably either remaining adenomatosis after an incomplete resection or unevenly distributed hyperactivities within the intermediate form of CHI.…”

Section: Discussionmentioning

confidence: 99%

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Evaluation of [18F]Fluoro-l-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism

Barthlen

Blankenstein

Mau

et al. 2008

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context:In congenital hyperinsulinism (CHI), the identification and precise localization of a focal lesion is essential for successful surgery.Objective: Our objective was to evaluate the predictive value and accuracy of integratedfor the surgical therapy of CHI. Design:This was an observational study. Setting:The study was performed in the Department of Pediatric Surgery at a university hospital. Results: In nine children the intraoperative situation corresponded exactly to the description of the [18 F]FDOPA PET-CT. A limited resection of the pancreas was curative in eight cases at the first surgery, in one case at the second intervention. We observed no diabetes mellitus or exocrine insufficiency in the follow up so far. In one child, hypoglycemia persisted even after two partial resections of the pancreatic head. Histological analysis finally revealed an atypical intermediate form of CHI. Conclusions

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Section: Discussionmentioning

confidence: 99%

“…[ 18 F]FDOPA PET scanning produces a bright spot in the focal form, but the exact anatomical localization for the surgeon is poor (16,28). Therefore, the additional acquisition of the anatomical data by CT has been of great value.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of [18F]Fluoro-l-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism

Barthlen

Blankenstein

Mau

et al. 2008

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…Congenital hyperinsulinism (CHI), also known as hyperinsulinaemic hypoglycaemia or persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI), is a heterogeneous disease entity with disease-causing mutations in at least eight different genes, two major histological types and a highly variable clinical phenotype with respect to the age of onset, duration and severity (1)(2)(3)(4). Mutations are most frequently found in the ABCC8 and KCNJ11 genes coding for the two K ATP -channel subunits SUR1 and Kir6.2 respectively (5,6).…”

Section: Introductionmentioning

confidence: 99%

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

Christesen

Tribble

Molven

et al. 2008

European Journal of Endocrinology

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Objective: Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known. Methods: From a pooled cohort of 201 non-syndromic children with CHI from three European referral centres (Denmark, nZ141; Norway, nZ26; UK, nZ34), 108 children had no K ATP -channel (ABCC8/KCNJ11) gene abnormalities and were screened for GCK mutations. Novel GCK mutations were kinetically characterised. Results: In five patients, four heterozygous GCK mutations (S64Y, T65I, W99R and A456V) were identified, out of which S64Y was novel. Two of the mutations arose de novo, three were dominantly inherited. All the five patients were medically responsive. In the combined Danish and Norwegian cohort, the prevalence of GCK-CHI was estimated to be 1.2% (2/167, 95% confidence interval (CI) 0-2.8%) of all the CHI patients. In the three centre combined cohort of 72 medically responsive children without K ATP -channel mutations, the prevalence estimate was 6.9% (5/72, 95% CI 1.1-12.8%). All activating GCK mutations mapped to the allosteric activator site. The novel S64Y mutation resulted in an increased affinity for the substrate glucose (S 0.5 1.49G0.08 and 7.39G0.05 mmol/l in mutant and wild-type proteins respectively), extrapolating to a relative activity index of w22 compared with the wild type. Conclusion: In the largest study performed to date on GCK in children with CHI, GCK mutations were found only in medically responsive children who were negative for ABCC8 and KCNJ11 mutations. The estimated prevalence (w7%) suggests that screening for activating GCK mutations is warranted in those patients.

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“…Типичная диффузная форма характеризуется обильным распределе-нием β-клеток с увеличенными, гиперхромати-новыми ядрами по всей поджелудочной железы [51]. При фокальной форме участок аденома-тозной гиперплазии с гигантскими ядрами окружен нормальной тканью поджелудочной железой [7,51].…”

Section: диагностическая точность методаunclassified

“…При фокальной форме ВГИ (30-40% пациентов) избыточная секреция инсулина обусловлена ги-перфункцией ограниченного фрагмента ткани поджелудочной железы -аденоматозом, размер которого обычно не превышает 10 мм в диа-метре, при этом вне фокуса аденоматоза опре-деляется здоровая ткань железы [6]. Атипичная форма патоморфологически схожа с диффуз-ной, однако зона аномальных клеток ограниче-на определенным участком [7]. Развитие фо-кальной формы ВГИ связано с унаследованной от отца мутации в генах ABCC8 или KCNJ11 в сочетании со специфической потерей материн-ской аллели в регионе импринтинга 11р15.1 [8].…”

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The Use of 18f-Dopa Pet/Ct Imaging in Congenital Hyperinsulinism

Gubaeva¹,

Melikyan²,

Ryzhkova³

et al. 2017

Rejr

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рожденный гиперинсулинизм (ВГИ) является частой причиной гипогликемии у детей. По данным гистологического исследования, заболевание подразделяют на диффузную, фокальную и атипичную формы. Хирургическая тактика ле-чения зависит от формы ВГИ: при фокальной форме выполняют резекцию патологической области поджелудочной железы с последующим полным выздоровлени-ем пациента, при диффузной форме с фармакорезистентным течением проводят ре-зекцию 95-98% поджелудочной железы, что приводит к развитию сахарного диабета и экзокринной панкреатической недостаточности. Дифференциальная диагностика фо-кальной и диффузной форм по клиническим и рентгенологическим признакам невоз-можна. ПЭТ/КТ с 18 F-ДОФА является «золотым стандартом» дифференциальной диагно-стики диффузной и фокальной форм заболевания. Настоящая статья является обзором литературных данных за последние 10 лет и посвящена методологическим основам и оценке информативности ПЭТ/КТ с 18 F-ДОФА у детей с ВГИ. ongenital hyperinsulinism is the most common cause of hypoglycemia in children. Congenital hyperinsulinism is divided into diffuse, focal and atypical forms. The surgical management for each form of congenital hyperinsulinism is crucially different. Focal form of congenital hyperinsulinism is cured by selective resection of the pathologic area leading to patient`s recovery. Medically unresponsive diffuse form of congenital hyperinsulinism requires the removal of 95-98% of pancreatic tissue, which may result in diabetes mellitus and exocrine pancreas insufficiency. Differential diagnosis of focal and diffuse forms according to clinical and radiological signs is impossible. Conducting with PET/CT with 18 F-DOPA is currently the "gold standard" of differential diagnosis between diffuse and focal forms of the disease. This article is a review of scientific papers for last 10 years and dedicated of methodology and diagnostic accuracy of PET/CT with 18 F-DOPA in children with congenital hyperinsulinism.

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Neonatal hyperinsulinism: clinicopathologic correlation

Cited by 35 publications

References 70 publications

Evaluation of [18F]Fluoro-l-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism

Evaluation of [18F]Fluoro-l-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

The Use of 18f-Dopa Pet/Ct Imaging in Congenital Hyperinsulinism

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