Geri Çekildi: Sendromik Obez Olgularımızın Klinik Olarak Değerlendirilmesi

Year 2021, , 379 - 385, 23.09.2021

Pınar Kocaay , Derya Tepe

https://doi.org/10.12956/tchd.929957

Abstract

Amaç: Obezite; Türkiye’de ve dünyada, sıklığı giderek artan önemli bir halk sağlığı sorunudur. Sendromik obezite, obezitenin nadir ancak önemli bir nedenidir. Çalışmada amaç; obez olguların poliklinik değerlendirmesinde hangi hikaye ve fizik muayene bulguları ile sendromik obeziteden şüphenilmeli sorusunu akla getirmektir. Böylece bu olgulara erken tanı konularak hayatı tehdit edebilecek ek anomalilerin erken fark edilmesi ve tedavisi sağlanacaktır.

Gereç ve Yöntemler: Bu çalışmada Ankara Şehir Hastanesi, Çocuk Endokrinoloji polikliniğine Ocak 2019-Ocak 2021 tarihleri arasında başvurmuş ve bu yıllarda takip edilmekte olan 18 yaş altı 17 sendromik obez olgu dahil edilmiştir. Olguların fizik muayene ve antropometrik değerlendirmeleri, laboratuvar bulguları, görme ve işitme muayeneleri, renal ve hepatobiliyer görüntülemeleri, ekokardiyografik değerlendirmeleri, psikiyatrik değerlendirmeleri, ek hastalıkları, kullandıkları ilaçlar ve mevcut genetik sonuçları dosyaları taranarak toplanmıştır.

Bulgular: Çalışmaya toplam 17 olgu dahil edildi. Bu olguların dokuzu kız, sekizi erkekti. Olguların en erken tanı yaşı 2 yaş; en geç tanı yaşı 12 yaş 6 aydı. Dört olgu Prader Willi sendromu, üç olgu Bardet Biedel sendromu, altı olgu Alström sendromu, dört olgu psödohipoparatiroidi Tip1 A tanısı aldı. Başvuru şikayeti 13 olguda kilo fazlalığı, aşırı yeme isteğiydi. Ancak psödohipoparatiroidi nedeniyle başvuran üç olgunun başvuru şikayeti hipokalsemiye bağlı semptomlar iken, bir olgununki boy kısalığıydı.

Sonuç: Olgularımızda en erken tanı yaşının 2 yaş olması çocuk poliklinik muayenelerinde fizik muayene ve anamnez alımının daha dikkatli yapılması gerektiğini göstermiştir. Ayrıca olguların son poliklinik muayeneleri obezitenin önlenmesi ve takibinde beklenilen başarının sağlanamadığını göstermiştir. Ailelerin bu konuda daha fazla eğitim almaları ve tedavide daha aktif rol almaları hastaları artan obezite derecesinden ve ek komplikasyonlardan koruyacaktır.

Bu makale 24-09-2021 tarihinde geri çekildi. https://dergipark.org.tr/tr/pub/tchd/issue/65826/1018461 

Keywords

Çocuk, genetik, obezite

Retraction: Clinical Evaluation of Our Syndromic Obese Children

Abstract

Objective: Obesity is an important public health problem growing increasingly in Turkey and in the world. Syndromic obesity is a rare but an important cause of obesity. Aim of the study is bringing to mind the question of which history and physical examination findings should be suspected in outpatient evaluation of syndromic obese cases. Thus, early diagnosis and treatment of additional life-threatening anomalies will be provided in these cases.

Material and Methods: In this study, 17 syndromic obese patients under the age of 18 who applied to Ankara City Hospital Pediatric Endocrinology outpatient clinic between January 2019 and January 2021 were included. Physical examinations and anthropometric evaluations of the cases, laboratory findings, visual and hearing examinations, renal and hepatobiliary imaging, echocardiographic evaluations, psychiatric evaluations, additional diseases, their medications and available
genetic results were collected by scanning the patient files.

Results: A total of 17 cases were included in the study. Nine of these cases were girls and eight were boys. The earliest diagnosis
age of the cases was 2 years and the latest diagnosis age was 12 years and 6 months. Four cases were diagnosed with Prader Willi
syndrome, three cases with Bardet Biedel syndrome, six cases with Alström syndrome and four cases with pseudohypoparathyroidism
Type 1 A. The application complaint was excess weight and desire to eat in 13 patients. However, three patients who diagnosed with
pseudohypoparathyroidism had hypocalcemia and the other one had short stature.

Conclusion: The fact that the earliest diagnosis age was 2 years in our cases showed that polyclinic physical examinations and taking
anamnesis should be done more carefully. In addition, the last outpatient clinic examinations of the cases showed that the expected success
could not be achieved in the prevention and follow-up of obesity. If families get more education on this subject and take important role in
treatment, patients will be protected from increased obesity and additional complications.

This article was retracted on September 24, 2021. https://dergipark.org.tr/en/pub/tchd/issue/65826/1018461 

Keywords

Child, Genetics, Obesity

References

• Garn SM,Sullivan TV, Hawthorne VM.Fatness and obesity of the parents of obese indivudials.Am J Clin Nutr 1989;50,1308-13.
• Bell CG, Walley AJ, Froguel P.The genetics of human obesity.Nat Rev Genet 2005;6:221-34.
• Reinehr T, Hinney A, de Sausa G, Austrup F, Hebebrand J, Andler W. Definable somatic disorders in owerweight children and adolescents. J Pediatr 2007;150:618-22.
• Albayrak HM, Eklioğlu BS. Çocukluk Çağında Sık Görülen Obezite Sendromları. J Curr Pediatr 2016;14:82-7.
• Waterlow JC. Classification and definition of protein-calorie malnutrition. Br Med J 1972; 3: 566-9.
• Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, et al. Pediatric obesity-assessment, treatment, and prevention: an endocrine society clinical practice guideline. Clin Endocrinol Metab 2017;102:709-57.
• Chung WK, Leibel RL. Molecular physiology of syndromic obesities in humans. Trends Endocrinol Metab 2005; 16: 267-72.
• Cassidy SB, Dykens E, Williams CA. Prader willi and Angelman syndromes:sister imprinted disorders.Am J Med Genet 2000;97:136-46.
• Angulo MA, Butler MG, Cataletto ME. Prader -Willi syndrome: A review of clinical, genetic, and endocrine findings. J Endocrinol Inves 2015;38.1249-63.
• Miller JL, Tamura R, Butler MG, Kimonis V, Sulsona C, Gold JA, et al. Oxytocin treatment in children with Prader-Willi syndrome: A double- blind, placebo-controled, crossover study. Am J Med Genet A 2017;173:1243-50.
• Yang A, Choi JH, Sohn YB, Eom Y, Lee J, Yoo HW, et al. Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controled trial. Orphanet J Rare Dis 2019 Sep 11;14:216.
• Lindgren AC, Lindberg A. Growth hormone treatment completely normalizes adult height and improves body composition in Prader-Willi syndrome: Experience from KIGS (Pfizer International Growth Database). Horm Res 2008;70:182–7.
• Angulo MA, Castro-Magana M, Lamerson M, Arguello R, Accacha S, Khan A. Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A 2007;143:1456-61.
• Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger.Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center. Orphanet J Rare Dis 2019;14: 238.
• Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 1999;36:437-46.
• Chatterjee SS, Guha P,Talukdar A, Dasgupta G. Autism: a rare presentation of Bardet-Biedl syndrome. BMJ case reports 2014 ;4;167-72.
• Atmış B, Bayazıt AK, Melek E, Bişgin A, Anarat A.Renal features of Bardet Biedl syndrome: A single center experience. Turk J Pediatr 2019;61:186-92.
• Deniz Z, Finn RH , Charlatte von der L. Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support. Eur J Med Genet 2020;04:01.
• Brofferio A, Sachdev V, Hannoush H Marshal JD, Naggert JK, Sidenko S, et al. Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients. Mol Genet Metab 2017;121:336-43.
• Marshall JD, Beck S, Maffei P, Naggert JK. Alström Syndrome. Eur J Hum Genet 2007;15812:1193-202.
• Dinleyici EÇ, Kılıç Z, Doğruel N. A case of Alstrom syndrome presenting with dilated cardiomyopathy at 13 years of age Turkiye Klinikleri J Pediatr 2007;16:118-21.
• Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, et al. Defining renal phenotype in Alstrom syndrome. Nephrol Dial Transplant 2020;35:994-1001.
• Mantovani G, Spada A. Resistance to growth hormone releasing hormone and gonadotropins in Albright’s hereditary osteodystrophy. J Pediatr Endocrinol Metab 2006;19:663-70.
• Mantovani G, Ferrante E, Giavoli C, Linglart A, Cappa M, Cisternino M, et al. Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. J Clin Endocrinol Metab 2010;95:5011-7.