<sup>68</sup>Ga-NODAGA-Exendin-4 PET Scanning for Focal Congenital Hyperinsulinism: Need for Replication

Banerjee, Indraneel; Sajjan, Rakesh; Estebanez, Maria Salomon; Dunne, Mark J.; Mohnike, Konrad; Mohnike, Wolfgang; States, Lisa J.; León, Diva D. De; Mohnike, Klaus

doi:10.2967/jnumed.121.262984

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…When interpreted by a blinded nuclear medicine expert, sensitivity of the two modalities was more similar (93%, 95% CI: 66–100% vs. 86%, 95% CI: 57–98%). Notably, this study was subject to several forms of bias [21 ▪ ,22]. Observer bias was likely introduced due to the inclusion of retrospective data.…”

Section: Imagingmentioning

confidence: 99%

Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism

Rosenfeld

León

2023

Current Opinion in Pediatrics

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Purpose of review To highlight advances in congenital hyperinsulinism (HI), including newly described molecular mechanisms of disease, novel therapeutic interventions, and improved understanding of long-term outcomes. Recent findings Important advances have been made elucidating the molecular mechanisms responsible for HI. Non-coding variants in HK1 have been found to cause aberrant hexokinase expression. Inactivating mutations in SLC25A36 have been identified in children with features of the hyperinsulinism hyperammonemia syndrome. Low-level mosaic mutations in known HI genes have been detected in cases of ‘genetic testing negative’ HI. Identification and localization of focal HI lesions remains a priority, since focal HI can be cured with surgery. Use of 68Ga-NODAGA-exendin-4 PET has been proposed to localize focal lesions. Additional studies are needed before this technique replaces 18F-DOPA PET as standard of care. Treatment options for children with diffuse HI remain limited. The long-acting somatostatin analog, lanreotide, was shown to significantly improve glycemic control in a large series of children with HI. New therapies are under development, with promising preliminary results. Long-term quality of life and neurodevelopmental outcomes remain suboptimal. Summary Advanced genetic and epigenomic analytic techniques have uncovered novel molecular mechanisms of HI. Development of new drugs holds promise to improve long-term outcomes for individuals with HI.

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Section: Imagingmentioning

confidence: 99%

Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism

Rosenfeld

León

2023

Current Opinion in Pediatrics

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Kongenitaler Hyperinsulinismus

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Mohnike

2024

Kinder- und Jugendmedizin

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ZUSAMMENFASSUNGBereits in den 1950er-Jahren wurde eine Familie mit leuzinsensitiver Hypoglykämie beschrieben, die erstmals eine genetische Ursache der „idiopathischen Hypoglykämie des Säuglings McQuarry“ vermuten ließ. Jedoch erst in den 1990er-Jahren konnten genetische Ursachen des damals unspezifisch als Nesidioblastose bezeichneten kongenitalen Hyperinsulinismus nachgewiesen werden. Diese Erkenntnisse zur Pathogenese führten bereits wenige Jahre später zur lebenslangen Heilung für etwa ein Drittel der zuvor intensivmedizinisch betreuten Säuglinge. Bei dieser Teilgruppe liegt ein umschriebener hochaktiver Fokus im Pankreas vor, der häufig laparoskopisch entfernt werden kann. Auch für die medikamentöse Therapie gibt es den Ausblick auf eine Präzisionstherapie mit löslichem Glukagon, spezifischem Insulinrezeptorantikörper und einem spezifischen GLP-1-Antagonisten.

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⁶⁸Ga-NODAGA-Exendin-4 PET Scanning for Focal Congenital Hyperinsulinism: Need for Replication

Cited by 2 publications

References 5 publications

Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism

Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism

Kongenitaler Hyperinsulinismus

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68Ga-NODAGA-Exendin-4 PET Scanning for Focal Congenital Hyperinsulinism: Need for Replication

Cited by 2 publications

References 5 publications

Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism

Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism

Kongenitaler Hyperinsulinismus

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Product

Resources

About

⁶⁸Ga-NODAGA-Exendin-4 PET Scanning for Focal Congenital Hyperinsulinism: Need for Replication