Çocukluk çağında sık görülen obezite sendromları
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Date
2015-08-19
Authors
Albayrak, Hatice Mutlu
Eklioğlu, Beray Selver
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Sendromik obezite farklı gen ya da kromozom bozukluklarıyla ortaya çıkar. Obeziteye dismorfik bulgular, mental retardasyon ve gelişimsel anomaliler eşlik eder. Prader-Willi sendromu, Bardet-Biedl sendromu ve Alström sendromu klinik pratikte en sık karşılaşılan obezite sendromlarıdır. Prader-Willi sendromu hipotoni, hiperfaji, hipogonadizm ve boy kısalığı ile karakterize genomik imprinting hatasından kaynaklanan bir obezite sendromudur. Bardet-Biedl sendromu retinal distrofi, trunkal obezite, postaksiyel polidaktili, öğrenme güçlüğü, renal anomaliler ve erkeklerde hipogonadotropik hipogonadizm ile karakterize otozomal resesif geçişli, genetik olarak heterojen bir siliopati sendromudur. Alström sendromu ilerleyici kon-rod distrofisine, obezite ve sensörinöral işitme kaybının eşlik ettiği çoklu organ tutulumu ile karakterize, otozomal resesif geçişli bir sendromdur. Ekzojenik ve monojenik obezitelerin dışlandığı durumlarda sendromik obeziteye yaklaşırken hormonal değerlendirmenin yanında hasta ek dismorfik özellikleri, oftalmolojik, dental, kardiyak, renal, nörolojik sistem yönünden de değerlendirilmelidir. Tanının doğrulanması ve aileye genetik danışmanlık hizmeti verilebilmesi için genetik tanı yöntemlerinden yararlanılmalıdır.
Syndromic obesity occurs with different genetic or chromosomal disorders. Obesity is accompanied by dysmorphic features, mental retardation and developmental abnormalities. Prader-Willi syndrome, Bardet-Biedl syndrome and Alström syndrome are the most commonly encountered obesity syndromes, in clinical practice. Prader-Willi syndrome is an obesity syndrome, characterized by hypotonia, hyperphagia, hypogonadism and short stature due to genomic imprinting defect. Bardet-Biedl syndrome is a genetically heterogeneous ciliopathy syndrome caused by autosomal recessive genes, characterized by retinal dystrophy, truncal obesity, postaxial polydactyly, learning difficulties, renal anomalies, and hypogonadotropic hypogonadism only in males, Alström syndrome is an autosomal recessive syndrome, characterized by progressive cone-rod dystrophy, obesity and sensorineural hearing loss accompanied by multi-organ involvement. If exogenous and monogenic obesity is excluded, not only hormonal evaluation but also additional dysmorphic features, ophthalmic, dental, cardiac, renal, and neurological systems should also be evaluated to approach syndromic obesity. Genetic diagnostic analysis should be utilized for confirming the diagnosis and providing genetic counseling to families.
Syndromic obesity occurs with different genetic or chromosomal disorders. Obesity is accompanied by dysmorphic features, mental retardation and developmental abnormalities. Prader-Willi syndrome, Bardet-Biedl syndrome and Alström syndrome are the most commonly encountered obesity syndromes, in clinical practice. Prader-Willi syndrome is an obesity syndrome, characterized by hypotonia, hyperphagia, hypogonadism and short stature due to genomic imprinting defect. Bardet-Biedl syndrome is a genetically heterogeneous ciliopathy syndrome caused by autosomal recessive genes, characterized by retinal dystrophy, truncal obesity, postaxial polydactyly, learning difficulties, renal anomalies, and hypogonadotropic hypogonadism only in males, Alström syndrome is an autosomal recessive syndrome, characterized by progressive cone-rod dystrophy, obesity and sensorineural hearing loss accompanied by multi-organ involvement. If exogenous and monogenic obesity is excluded, not only hormonal evaluation but also additional dysmorphic features, ophthalmic, dental, cardiac, renal, and neurological systems should also be evaluated to approach syndromic obesity. Genetic diagnostic analysis should be utilized for confirming the diagnosis and providing genetic counseling to families.
Description
Keywords
Obezite, Genetik, Prader-Willi sendromu, Bardet-Biedl sendromu, Alström sendromu, Obesity, Genetics, Prader-Willi syndrome, Bardet-Biedl syndrome, Alström syndrome
Citation
Albayrak, H. M. ve Eklioğlu, B. S. (2016). "Çocukluk çağında sık görülen obezite sendromları". Güncel Pediatri, 14(2), 82-87.