ESPE Abstracts (2016) 86 P-P2-281

Child with Mutation in GATA 6 Gene - Case Report

Agnieszka Brandta, Małgorzata Szmigiero-Kawkoa, Wojciech Młynarskib, Jolanta Wierzbac & Małgorzata Myśliwieca


aClinic of Pediatric, Diabetology and Endocrinology, Medical University of Gdansk, Gdansk, Poland; bMedical University of Lodz, Lodz, Poland; cClinic of Pediatric, Hematology and Oncology, Gdansk, Poland


Background: The GATA family of zinc finger transcription factors including GATA4 and GATA6 are known to play an important role in the development of the pancreas.

Aim: The aim of this case-report study is to present a patient with GATA6 mutation treated in Clinic of Pediatric, Diabetology and Endocrinology, Medical University of Gdansk.

Case report: Child was born prematurely in 36th week of pregnancy with birth weight of 1520 g, with breathing problems supported by mechanical ventilation. Echocardiography, detected tetralogy of Fallot in this patient. From third day of life, hyperglycemia was noticed and intravenous insulin infusion started. Because of meconium obstruction in the newborn, cystic fibrosis was suspected. In neonatal screening, congenital hypothyroidism was diagnosed and thyroxin was prescribed. Genetic test did not confirm CF (mutation on one allel CFTR gene – F508del) and Hirschsprung disease was suspected. In genetic test, reciprocal translocation between chromosome 1 and 7, and pericentric inversion of chromosome 9 was found. Child received thyroid hormons, insulin, pancreatic enzymes, antispasmodic agents, ursodeoxycholic acid, rectal ingots and vitamins. In first month of life, insulin was injected intravenously and when child reached a weight of approximately 2.5 kg, insulin pump therapy was started with insulin dose of 0.8 U/kg per day. The child was qualified to cardiosurgical correction of cardiac heart defect which was performed with good outcomes. On the basis of clinical picture, mutation in GATA 6 was suspected. In genetic laboratory of Medical University of Łódź, genetic tests were performed and GATA 6 mutation was detected. Metabolic control of diabetes is poor.

Conclusion: Persistent neonatal diabetes with exocrine insufficiency of pancreas and heart defect in patient were caused by GATA6 gene mutation.

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