Introduction: Patients with GATA6 gene mutations have broad spectrum of clinical presentation, but most of them have pancreatic agenesis or hypotrophy, exocrine pancreatic insufficiency, insulin-treated neonatal diabetes and cardiac malformations. Some of them have significant neurocognitive deficits, hypopituitarism, hypothyroidism, gut abnormalities, biliary atresia, gallbladder agenesis.
Case Report: The 5.5 year old female patient with mutation R493X in GATA6 gene is followed up in our Pediatric Diabetology Department since she was diagnosed with diabetes in first week of life. Her phenotype manifestation is: pancreatic hypotrophy, insulin dependent diabetes, exocrine pancreatic insufficiency required enzyme supplementation, meconium ileus, tetralogy of Fallot requiring surgery in second year of life, severe hypothyroidism, psychomotor delay.
Due to difficulties in cooperation with her mother, very high levels of TSH between 1,2 and 1800uU/ml and abnormal levels of fT4 between <5-23 pmol/l were observed. Mother was educated about L-tyroxin supplementation in doses between 2ug/kg to 5ug/kg, but many times she didn't give the medication to her child. Additionally problems with insulin treatment were observed. Average glucose levels were between 180-360mg/dl, insulin was injected many times after meal and infusion sets in insulin pump were not changed regularly, in spite of diabetes training. HbA1c was from 7 to 10%, DDI was in range 0,4-0,8j/kg. In 4th year of life we transferred the patient to insulin multiple injections due to mother's uncooperation. Appointments in outpatient clinic were very irregular.
Conclusions: Difficulties in treatment in the patient could result from clinical presentation of GATA6 mutation and also from problems with cooperation with patient's parents.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology