گزارش نخستين بيمار شناخته شده دچار چاقي شديد در اثر موتاسيون ژن گيرنده لپتين در ايران

THE FIRST REPORT OF LEPR MUTATION IN AN IRANIAN MORBID OBESE CHILD

It is estimated that up to 40-70% of obesities is attributable to genetic factors. Monogenic forms of obesity are uncommon. We present the first such reported case in Iran. The patient presented with a history of severe hyperphagia, rapid weight gain and recurrent infections. He was born after a normal pregnancy in a highly consanguineous marriage. His birth weight had been normal. At age of 18 months he weighted 28 kg. Apart from obesity and syndactyly of second/third digits in both feet there were no other abnormalities on physical examination. His fasting serum leptin was 45 ng/ml. Genotyping revealed 66-bp deletion in codon 514 of leptin receptor gene. Unfortunately he developed another respiratory infection which was unresponsive to intensive treatment and died following a cardiorespiratory arrest. Genetic assessment is recommended in morbid obese patients especially those with a childhood onset. Leptin receptor mutations can be associated with immune system deficiency and recurrent infections.