Clinical and laboratory evaluation of children with congenital hyperinsulinism: A single center experience

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dc.authorid0000-0002-5715-4129
dc.authorid0000-0001-9351-7102
dc.authorid0000-0002-4183-3805
dc.authorid0000-0001-6930-7148
dc.authorid0000-0002-8968-4079
dc.authorid0000-0002-1044-6888
dc.contributor.authorGündoğdu, Semra
dc.contributor.authorÇiftci, Mustafa
dc.contributor.authorAtay, Enver
dc.contributor.authorAyaz, Akif
dc.contributor.authorCeran, Ömer
dc.contributor.authorAtay, Zeynep
dc.date.accessioned2023-02-22T06:49:06Z
dc.date.available2023-02-22T06:49:06Z
dc.date.issued2023
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractObjectives: To evaluate and present the data regarding clinical, laboratory, radiological and the results of molecular genetic analysis of patients with hyperinsulinemic hypoglycemia in our clinics. Methods: A total of 9 patients with CHI followed at Istanbul Medipol University. Data related to gender, age at presentation, birth weight, gestational age, consanguinity, glucose and insulin levels at diagnosis, treatment modalities, response to treatment, the results of genetic analysis and radiological evaluation were gathered from the files. Results: The oldest age at presentation was 6 months. K-ATP channel mutation was detected in 55% (n: 5). Diazoxide unresponsiveness was seen in 55% (n: 5). Octreotide was effective in 3 of them. F-18-DOPA PET performed in 4 diazoxide unresponsive patients revealed focal lesion in 3 of them. Spontaneous remission rate was 66% (n:6). All the patients with normal genetic result achieved spontaneous remission. Spontaneous remission was even noted in diazoxide unresponsive patients and in patients with focal lesion on F-18-DOPA PET. Conclusions: Clinical presentation of patients with congenital hypereinsulinism is heterogeneous. Spontaneous remission rate is quite high even in patients with severe clinical presentation. It is important to develop methods that can predict which patients will have spontaneous remission. Reporting the clinical and laboratory data of each patient is important and will help to guide the management of patients with hyperinsulinemic hypoglycemia.
dc.identifier.citationGündoğdu, S., Çiftci, M., Atay, E., Ayaz, A., Ceran, Ö. ve Atay, Z. (2023). Clinical and laboratory evaluation of children with congenital hyperinsulinism: A single center experience. Journal of Pediatric Endocrinology and Metabolism, 36(1), 53-57. https://doi.org/10.1515/jpem-2022-0155
dc.identifier.doi10.1515/jpem-2022-0155
dc.identifier.endpage57
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue1
dc.identifier.pmid36409572
dc.identifier.scopus2-s2.0-85142922546
dc.identifier.scopusqualityQ2
dc.identifier.startpage53
dc.identifier.urihttps://doi.org/10.1515/jpem-2022-0155
dc.identifier.urihttps://hdl.handle.net/20.500.12511/10498
dc.identifier.volume36
dc.identifier.wos000889973800001en_US
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorGündoğdu, Semra
dc.institutionauthorÇiftci, Mustafa
dc.institutionauthorAtay, Enver
dc.institutionauthorAyaz, Akif
dc.institutionauthorCeran, Ömer
dc.institutionauthorAtay, Zeynep
dc.language.isoen
dc.publisherWalter de Gruyter GmbH
dc.relation.ispartofJournal of Pediatric Endocrinology and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectF-18-DOPA PET
dc.subjectCongenital Hyperinsulinism
dc.subjectDiazoxide
dc.subjectK-ATP Channel
dc.titleClinical and laboratory evaluation of children with congenital hyperinsulinism: A single center experience
dc.typeArticle

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