BibTex RIS Kaynak Göster

Çocukluk Çağında Sık Görülen Obezite Sendromları

Yıl 2016, Cilt: 14 Sayı: 2, 82 - 87, 01.09.2016
https://doi.org/10.4274/jcp.85547

Öz

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

Kaynakça

  • 1. Alemzadeh R, Rising R, Lifshitz F. Obesity in Children. In: Lifshitz F, (ed). Pediatric Endocrinology. 5th ed. London: Informa Healthcare; 2009:273-7.
  • 2. Savona-Ventura C, Savona-Ventura S. The inheritance of obesity. Best Pract Res Clin Obstet Gynaecol 2015;29:300-8.
  • 3. Mason K, Page L, Balikcioglu PG. Screening for hormonal, monogenic, and syndromic disorders in obese infants and children. Pediatr Ann 2014;43:218-24.
  • 4. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009;17:3-13.
  • 5. Rocha CF, Paiva CL. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities. Genet Mol Res 2014;13:2290-8.
  • 6. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993;91:398-402.
  • 7. Gunay-Aygun M, Schwartz S, Heeger S, O’Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001;108:92.
  • 8. Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Prader-Willi Syndrome. 1998 Oct 06 [updated 2014 Jan 23]. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK 1330/
  • 9. Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, et al. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet 2012;20:283-90.
  • 10. Goldstone AP. Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 2004;15:12-20.
  • 11. Bridges N. What is the value of growth hormone therapy in Prader Willi syndrome? Arch Dis Child 2014;99:166-70.
  • 12. Aycan Z, Baş VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol 2014;6:62-7.
  • 13. Eiholzer U, Stutz K, Weinmann C, Torresani T, Molinari L, Prader A. Low insulin, IGF-I and IGFBP-3 levels in children with Prader-Labhart-Willi syndrome. Eur J Pediatr 1998;157:890-3.
  • 14. Oto Y, Obata K, Matsubara K, Kozu Y, Tsuchiya T, Sakazume S, et al. Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome. Am J Med Genet A 2012;158:1477-80.
  • 15. Gilmour J, Skuse D, Pembrey M. Hyperphagic short stature and Prader--Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress. Br J Psychiatry 2001;179:129-37.
  • 16. Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, et al. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet 2008;16:1443-9.
  • 17. Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Impact of molecular mechanisms, including deletion size, on Prader￾Willi syndrome phenotype: study of 75 patients. Clin Genet 2005;67:47-52.
  • 18. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet 2001;68:606-16.
  • 19. Forsythe E, Beales PL. Bardet-Biedl Syndrome. 2003 Jul 14 [updated 2014 Feb 20]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1363/
  • 20. M’hamdi O, Ouertani I, Chaabouni-Bouhamed H. Update on the genetics of bardet-biedl syndrome. Mol Syndromol 2014;5:51-6.
  • 21. 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.
  • 22. Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, et al. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet 2010;47:236-41.
  • 23. Billingsley G, Deveault C, Héon E. BBS mutational analysis: a strategic approach. Ophthalmic Genet 2011;32:181-7.
  • 24. Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, et al. Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2011;129:79-90.
  • 25. Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, et al. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2007;2:49.
  • 26. Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005;165:675-83.
  • 27. Marshall JD, Paisey RB, Carey C, Macdermott S. Alström Syndrome. 2003 Feb 07 [updated 2012 May 31]. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1267/
  • 28. Aliferis K, Hellé S, Gyapay G, Duchatelet S, Stoetzel C, Mandel JL, et al. Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. Ophthalmic Genet 2012;33:18-22.
  • 29. Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics 2011;12:225-35.
  • 30. Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, et al. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. J Hum Genet 2015;60:1-9.

Common Obesity Syndromes in Childhood

Yıl 2016, Cilt: 14 Sayı: 2, 82 - 87, 01.09.2016
https://doi.org/10.4274/jcp.85547

Öz

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

Kaynakça

  • 1. Alemzadeh R, Rising R, Lifshitz F. Obesity in Children. In: Lifshitz F, (ed). Pediatric Endocrinology. 5th ed. London: Informa Healthcare; 2009:273-7.
  • 2. Savona-Ventura C, Savona-Ventura S. The inheritance of obesity. Best Pract Res Clin Obstet Gynaecol 2015;29:300-8.
  • 3. Mason K, Page L, Balikcioglu PG. Screening for hormonal, monogenic, and syndromic disorders in obese infants and children. Pediatr Ann 2014;43:218-24.
  • 4. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009;17:3-13.
  • 5. Rocha CF, Paiva CL. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities. Genet Mol Res 2014;13:2290-8.
  • 6. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993;91:398-402.
  • 7. Gunay-Aygun M, Schwartz S, Heeger S, O’Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001;108:92.
  • 8. Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Prader-Willi Syndrome. 1998 Oct 06 [updated 2014 Jan 23]. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK 1330/
  • 9. Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, et al. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet 2012;20:283-90.
  • 10. Goldstone AP. Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 2004;15:12-20.
  • 11. Bridges N. What is the value of growth hormone therapy in Prader Willi syndrome? Arch Dis Child 2014;99:166-70.
  • 12. Aycan Z, Baş VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol 2014;6:62-7.
  • 13. Eiholzer U, Stutz K, Weinmann C, Torresani T, Molinari L, Prader A. Low insulin, IGF-I and IGFBP-3 levels in children with Prader-Labhart-Willi syndrome. Eur J Pediatr 1998;157:890-3.
  • 14. Oto Y, Obata K, Matsubara K, Kozu Y, Tsuchiya T, Sakazume S, et al. Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome. Am J Med Genet A 2012;158:1477-80.
  • 15. Gilmour J, Skuse D, Pembrey M. Hyperphagic short stature and Prader--Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress. Br J Psychiatry 2001;179:129-37.
  • 16. Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, et al. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet 2008;16:1443-9.
  • 17. Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Impact of molecular mechanisms, including deletion size, on Prader￾Willi syndrome phenotype: study of 75 patients. Clin Genet 2005;67:47-52.
  • 18. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet 2001;68:606-16.
  • 19. Forsythe E, Beales PL. Bardet-Biedl Syndrome. 2003 Jul 14 [updated 2014 Feb 20]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1363/
  • 20. M’hamdi O, Ouertani I, Chaabouni-Bouhamed H. Update on the genetics of bardet-biedl syndrome. Mol Syndromol 2014;5:51-6.
  • 21. 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.
  • 22. Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, et al. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet 2010;47:236-41.
  • 23. Billingsley G, Deveault C, Héon E. BBS mutational analysis: a strategic approach. Ophthalmic Genet 2011;32:181-7.
  • 24. Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, et al. Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2011;129:79-90.
  • 25. Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, et al. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2007;2:49.
  • 26. Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005;165:675-83.
  • 27. Marshall JD, Paisey RB, Carey C, Macdermott S. Alström Syndrome. 2003 Feb 07 [updated 2012 May 31]. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1267/
  • 28. Aliferis K, Hellé S, Gyapay G, Duchatelet S, Stoetzel C, Mandel JL, et al. Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. Ophthalmic Genet 2012;33:18-22.
  • 29. Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics 2011;12:225-35.
  • 30. Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, et al. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. J Hum Genet 2015;60:1-9.
Toplam 30 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Research Article
Yazarlar

Hatice Mutlu Albayrak

Beray Selver Eklioğlu Bu kişi benim

Yayımlanma Tarihi 1 Eylül 2016
Yayımlandığı Sayı Yıl 2016 Cilt: 14 Sayı: 2

Kaynak Göster

APA Albayrak, H. M., & Eklioğlu, B. S. (2016). Çocukluk Çağında Sık Görülen Obezite Sendromları. Güncel Pediatri, 14(2), 82-87. https://doi.org/10.4274/jcp.85547
AMA Albayrak HM, Eklioğlu BS. Çocukluk Çağında Sık Görülen Obezite Sendromları. Güncel Pediatri. Eylül 2016;14(2):82-87. doi:10.4274/jcp.85547
Chicago Albayrak, Hatice Mutlu, ve Beray Selver Eklioğlu. “Çocukluk Çağında Sık Görülen Obezite Sendromları”. Güncel Pediatri 14, sy. 2 (Eylül 2016): 82-87. https://doi.org/10.4274/jcp.85547.
EndNote Albayrak HM, Eklioğlu BS (01 Eylül 2016) Çocukluk Çağında Sık Görülen Obezite Sendromları. Güncel Pediatri 14 2 82–87.
IEEE H. M. Albayrak ve B. S. Eklioğlu, “Çocukluk Çağında Sık Görülen Obezite Sendromları”, Güncel Pediatri, c. 14, sy. 2, ss. 82–87, 2016, doi: 10.4274/jcp.85547.
ISNAD Albayrak, Hatice Mutlu - Eklioğlu, Beray Selver. “Çocukluk Çağında Sık Görülen Obezite Sendromları”. Güncel Pediatri 14/2 (Eylül 2016), 82-87. https://doi.org/10.4274/jcp.85547.
JAMA Albayrak HM, Eklioğlu BS. Çocukluk Çağında Sık Görülen Obezite Sendromları. Güncel Pediatri. 2016;14:82–87.
MLA Albayrak, Hatice Mutlu ve Beray Selver Eklioğlu. “Çocukluk Çağında Sık Görülen Obezite Sendromları”. Güncel Pediatri, c. 14, sy. 2, 2016, ss. 82-87, doi:10.4274/jcp.85547.
Vancouver Albayrak HM, Eklioğlu BS. Çocukluk Çağında Sık Görülen Obezite Sendromları. Güncel Pediatri. 2016;14(2):82-7.