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Войти в исследования Journal of pediatric endocrinology & metabolism : JPEM · 2014
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia.
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Kalaivanan Prabhakaran, Arya Ved Bhushan, Shah Pratik, Datta Vipan, Flanagan Sarah E, Mackay Deborah J G, Ellard Sian, Senniappan Senthil, Hussain Khalid
Аннотация
AIM: We describe the novel clinical observation of protein induced hyperinsulinaemic hypoglycaemia following remission of transient neonatal diabetes mellitus (TNDM) in a patient with 6q24 methylation defect.
METHODS: A male infant of non-consanguineous Caucasian parents, born at 40 weeks of gestation with a birth weight of 3330 g (-0.55 standard deviation score) presented with hyperglycaemia in the first week of life and was diagnosed with 6q24 TNDM. At 22 months of age, he developed recurrent hypoglycaemic episodes. Controlled diagnostic fast, oral glucose tolerance test, protein loading test and mixed meal tolerance test were undertaken. Sequencing of ABCC8, KCNJ11, GLUD1 and HADH were performed.
RESULTS: Investigations suggested a diagnosis of protein sensitive hyperinsulinaemic hypoglycaemia with normal serum ammonia, acylcarnitine profile and urine organic acids. Sequencing of ABCC8, KCNJ11, GLUD1 and HADH did not identify a pathogenic mutation to explain his hyperinsulinaemic hypoglycaemia.
CONCLUSION: This clinical case demonstrates the novel observation of protein sensitive hyperinsulinaemic hypoglycaemia in a patient with 6q24 TNDM. Long-term follow-up of patients with chromosome 6q24 TNDM is warranted following remission.
METHODS: A male infant of non-consanguineous Caucasian parents, born at 40 weeks of gestation with a birth weight of 3330 g (-0.55 standard deviation score) presented with hyperglycaemia in the first week of life and was diagnosed with 6q24 TNDM. At 22 months of age, he developed recurrent hypoglycaemic episodes. Controlled diagnostic fast, oral glucose tolerance test, protein loading test and mixed meal tolerance test were undertaken. Sequencing of ABCC8, KCNJ11, GLUD1 and HADH were performed.
RESULTS: Investigations suggested a diagnosis of protein sensitive hyperinsulinaemic hypoglycaemia with normal serum ammonia, acylcarnitine profile and urine organic acids. Sequencing of ABCC8, KCNJ11, GLUD1 and HADH did not identify a pathogenic mutation to explain his hyperinsulinaemic hypoglycaemia.
CONCLUSION: This clinical case demonstrates the novel observation of protein sensitive hyperinsulinaemic hypoglycaemia in a patient with 6q24 TNDM. Long-term follow-up of patients with chromosome 6q24 TNDM is warranted following remission.