Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.

Globa, Evgenia; Zelinska, Nataliya; Johnson, Matthew B; Flanagan, Sarah E; De Franco, Elisa

Globa, Evgenia; Zelinska, Nataliya; Johnson, Matthew B; Flanagan, Sarah E; De Franco, Elisa.

Afiliación

Globa E; Ukrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of the Ministry of Health of Ukraine, Kyiv, Ukraine.
Zelinska N; Ukrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of the Ministry of Health of Ukraine, Kyiv, Ukraine.
Johnson MB; Institute of Biomedical and Clinical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
Flanagan SE; Institute of Biomedical and Clinical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
De Franco E; Institute of Biomedical and Clinical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.

Diabet Med ; 40(5): e15013, 2023 05.

Article en En | MEDLINE | ID: mdl-36398453

RESUMEN

AIMS: The aim of this study is to elucidate the aetiology and clinical features of neonatal and early-onset diabetes in a large database for pediatric diabetes patients in Ukraine. METHODS: We established a Pediatric Diabetes Register to identify patients diagnosed with diabetes before 9 months of age. Genetic testing was undertaken for 66 patients from 65 unrelated families with diabetes diagnosed within the first 6 months of life (neonatal diabetes, n = 36) or between 6 and 9 months (early-onset diabetes, n = 30). RESULTS: We determined the genetic aetiology in 86.1% of patients (31/36) diagnosed before 6 months and in 20% (6/30) diagnosed between 6 and 9 months. Fourteen individuals (37.8% of those with a genetic cause identified) had activating heterozygous variants in ABCC8 or KCNJ11. An additional 10 individuals had pathogenic variants in the INS or GCK genes, while 4 had 6q24 transient neonatal diabetes. Rare genetic subtypes (including pathogenic variants in EIF2AK3, GLIS3, INSR, PDX1, LRBA, RFX6 and FOXP3) were identified in nine probands (24.3% of solved cases), 6 of whom died. In total, eight individuals died between infancy and childhood, all of them were diagnosed before 6 months and had received a genetic diagnosis. CONCLUSIONS: In the last decade, the increased availability of comprehensive genetic testing has resulted in increased recognition of the contribution of rare genetic subtypes within pediatric diabetes cohorts. In our study, we identified a high mortality rate among these patients.

Asunto(s)

Diabetes Mellitus; Enfermedades del Recién Nacido; Recién Nacido; Humanos; Niño; Ucrania; Diabetes Mellitus/diagnóstico; Pruebas Genéticas; Enfermedades del Recién Nacido/genética; Proteínas Adaptadoras Transductoras de Señales/genética

Palabras clave

mortality; neonatal diabetes; rare cases

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diabetes Mellitus / Enfermedades del Recién Nacido Límite: Child / Humans / Newborn País/Región como asunto: Europa Idioma: En Revista: Diabet Med Asunto de la revista: ENDOCRINOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Ucrania Pais de publicación: Reino Unido

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