Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events Article Swipe
Elizabeth Rosenfeld
,
Lauren Mitteer
,
Kara E. Boodhansingh
,
Susan Becker
,
Heather McKnight
,
Linda Boyajian
,
Amanda M. Ackermann
,
Jennifer M. Kalish
,
Tricia R. Bhatti
,
Lisa J. States
,
N. Scott Adzick
,
Katherine Lord
,
Diva D. De León
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.3389/fped.2021.699129
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.3389/fped.2021.699129
Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical. Few cases of hyperinsulinism with multiple focal lesions have been reported, and assessment of the molecular mechanisms driving this rare occurrence has been limited. We present two cases of multifocal HI, each resulting from two independent, pancreatic focal lesions. 18 Fluoro-dihydroxyphenylalanine positron emission tomography/computed tomography detected both lesions preoperatively in one patient, whereas identification of the second lesion was an incidental finding during surgical exploration in the other. Complete resection of the focal lesions resulted in cure of the HI in both cases. In each patient, genetic testing of the individual focal lesions revealed different regions of loss of heterozygosity for the maternal 11p15 allele, confirming that each lesion arose from independent somatic events in the setting of a paternally inherited germline ABCC8 mutation. These cases highlight the importance of a multidisciplinary and personalized approach to the management of infants with HI.
Related Topics
Concepts
Congenital hyperinsulinism
Medicine
Hyperinsulinism
Pediatrics
Pathology
Diabetes mellitus
Endocrinology
Insulin resistance
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fped.2021.699129
- https://www.frontiersin.org/articles/10.3389/fped.2021.699129/pdf
- OA Status
- gold
- Cited By
- 7
- References
- 27
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3183195938
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3183195938Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3389/fped.2021.699129Digital Object Identifier
- Title
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Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic EventsWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2021Year of publication
- Publication date
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2021-07-16Full publication date if available
- Authors
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Elizabeth Rosenfeld, Lauren Mitteer, Kara E. Boodhansingh, Susan Becker, Heather McKnight, Linda Boyajian, Amanda M. Ackermann, Jennifer M. Kalish, Tricia R. Bhatti, Lisa J. States, N. Scott Adzick, Katherine Lord, Diva D. De LeónList of authors in order
- Landing page
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https://doi.org/10.3389/fped.2021.699129Publisher landing page
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https://www.frontiersin.org/articles/10.3389/fped.2021.699129/pdfDirect link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://www.frontiersin.org/articles/10.3389/fped.2021.699129/pdfDirect OA link when available
- Concepts
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Congenital hyperinsulinism, Medicine, Hyperinsulinism, Pediatrics, Pathology, Diabetes mellitus, Endocrinology, Insulin resistanceTop concepts (fields/topics) attached by OpenAlex
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7Total citation count in OpenAlex
- Citations by year (recent)
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2024: 4, 2022: 3Per-year citation counts (last 5 years)
- References (count)
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27Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.highlight | 157 |
| abstract_inverted_index.inherited | 151 |
| abstract_inverted_index.molecular | 46 |
| abstract_inverted_index.mutation. | 154 |
| abstract_inverted_index.reported, | 41 |
| abstract_inverted_index.resected. | 22 |
| abstract_inverted_index.resection | 100 |
| abstract_inverted_index.resulting | 63 |
| abstract_inverted_index.assessment | 43 |
| abstract_inverted_index.completely | 21 |
| abstract_inverted_index.confirming | 136 |
| abstract_inverted_index.importance | 159 |
| abstract_inverted_index.incidental | 91 |
| abstract_inverted_index.individual | 121 |
| abstract_inverted_index.management | 168 |
| abstract_inverted_index.mechanisms | 47 |
| abstract_inverted_index.multifocal | 60 |
| abstract_inverted_index.occurrence | 51 |
| abstract_inverted_index.pancreatic | 67 |
| abstract_inverted_index.paternally | 150 |
| abstract_inverted_index.surgically | 8 |
| abstract_inverted_index.tomography | 75 |
| abstract_inverted_index.exploration | 95 |
| abstract_inverted_index.independent | 142 |
| abstract_inverted_index.independent, | 66 |
| abstract_inverted_index.localization | 24 |
| abstract_inverted_index.personalized | 164 |
| abstract_inverted_index.Pre-operative | 23 |
| abstract_inverted_index.heterozygosity | 130 |
| abstract_inverted_index.identification | 84 |
| abstract_inverted_index.preoperatively | 79 |
| abstract_inverted_index.hyperinsulinism | 1, 34 |
| abstract_inverted_index.multidisciplinary | 162 |
| abstract_inverted_index.tomography/computed | 74 |
| abstract_inverted_index.Fluoro-dihydroxyphenylalanine | 71 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 96 |
| corresponding_author_ids | https://openalex.org/A5051617679 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 13 |
| corresponding_institution_ids | https://openalex.org/I1335321130, https://openalex.org/I79576946 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7300000190734863 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.77487598 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |