Journal of pediatric endocrinology & metabolism : JPEM · 2014
Permanent neonatal diabetes mellitus in Jordan.
СтатьяНазвание и аннотация: Перевод в очереди
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Abujbara Mousa A, Liswi Mohammed I, El-Khateeb Mohammed S, Flanagan Sarah E, Ellard Sian, Ajlouni Kamel M
Аннотация
OBJECTIVE: Permanent neonatal diabetes mellitus (PNDM) is a rare heterogeneous form of diabetes that develops within the first 6 months of life. The objective of this study is to define the genetic etiology and incidence of permanent neonatal diabetes mellitus in Jordan.
METHODS: This study was conducted in Jordan at the National Center of Diabetes, Endocrinology and Genetics, Amman, between 2006 and 2012. The study included 22 cases diagnosed with diabetes within the first year of life.
RESULTS: The incidence of PNDM in Jordan was calculated as one case for every 203,221 live births. Mutations were found in six out of ten cases diagnosed before 6 months and included one homozygous ABCC8 p.R826W mutation, three cases with a heterozygous KCNJ11 p.R201C mutation, and two cases with a homozygous EIF2AK3 splicing mutation.
CONCLUSION: The genetic etiology of PNDM in Jordan is different from that seen in European countries and more similar to other Arab countries.
METHODS: This study was conducted in Jordan at the National Center of Diabetes, Endocrinology and Genetics, Amman, between 2006 and 2012. The study included 22 cases diagnosed with diabetes within the first year of life.
RESULTS: The incidence of PNDM in Jordan was calculated as one case for every 203,221 live births. Mutations were found in six out of ten cases diagnosed before 6 months and included one homozygous ABCC8 p.R826W mutation, three cases with a heterozygous KCNJ11 p.R201C mutation, and two cases with a homozygous EIF2AK3 splicing mutation.
CONCLUSION: The genetic etiology of PNDM in Jordan is different from that seen in European countries and more similar to other Arab countries.