2021
DOI: 10.1007/s00247-021-05206-5
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Congenital hyperinsulinism: localization of a focal lesion with 18F-FDOPA positron emission tomography

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Cited by 4 publications
(2 citation statements)
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“…(2) Genes associated with metabolic diseases encompass GCK, SCHAD, GLUD1, SLC16A1, HNF1A, HNF4A, and UCP2 (8, 9). Histologically, CHI is further divided into three subgroups: diffuse, focal, and atypical forms (10). Currently, the most common and severe mutations in CHI are inactivating mutations in ABCC8 and KCNJ11 (11).…”
Section: Outcomementioning
confidence: 99%
“…(2) Genes associated with metabolic diseases encompass GCK, SCHAD, GLUD1, SLC16A1, HNF1A, HNF4A, and UCP2 (8, 9). Histologically, CHI is further divided into three subgroups: diffuse, focal, and atypical forms (10). Currently, the most common and severe mutations in CHI are inactivating mutations in ABCC8 and KCNJ11 (11).…”
Section: Outcomementioning
confidence: 99%
“…Ha a genetikai vizsgálat alapján focalis morfológia merül fel -ABCC8, KCNJ11 heterozigóta mutáció vagy Beckwitt-Wiedemann-szindróma -, a képalkotó vizsgálatok közül a 18 F-fluor-dihidroxi-fenilalanin PET/CT ( 18 F-DOPA PET/CT) az elsődlegesen választandó modalitás a fókusz igazolására és lokalizálására [15]. A 18 F-DOPA a dopamin prekurzor analógjaként magas szenzitivitással kötődik a pancreas β-sejtjeihez, ezzel lehetővé téve a differenciálást a diffúz és a focalis formák között (szenzitivitás 75-100%, specificitás 88-100%) [16].…”
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