Clinical difficulties in the diagnosis of Prader-Willi syndrome

DOI: https://doi.org/10.29296/25877305-2020-03-14
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Issue: 
3
Year: 
2020

Yu. Paramonova(1), Candidate of Medical Sciences; Yu. Khalturina(1), Candidate of Medical Sciences; N. Khruleva(2), Candidate of Medical Sciences; A. Khrulev(2), Candidate of Medical Sciences; N. Lyubavina(2), Candidate of Medical Sciences (1)City Clinical Hospital Ten, Nizhny Novgorod (2)Volga Research Medical University, Nizhny Novgorod

The paper discusses Prader-Willi syndrome (PWS), a rare form of genetically determined obesity. Due to the low prevalence of the disease (the population frequency is 1:10000–1:20,000), the clinical experience of specialists is insufficient, which often leads to untimely diagnosis. The essence of genetic abnormalities resulting in this pathology is disclosed; the clinical picture of the disease is described; diagnostic criteria that allow reliable diagnosis to be made even before genetic analysis are presented. A clinical case of delayed diagnosis is given as an illustration.
Keywords: 
Prader-Willi syndrome
obesity
dwarfism

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References: 
  1. Dedov I.I. Morbidnoe ozhirenie / M.: MIA, 2014; 608 s. [Dedov I.I. Morbidnoe ozhirenie / M.: MIA, 2014; 608 s. (in Russ.)].
  2. Nasledstvennye bolezni. Natsional'noe rukovodstvo. Pod red. N.P. Bochkova, E.K. Gintera, V.P. Puzyreva / M.: GEOTAR-Media, 2013; 936 s. [Nasledstvennye bolezni. Natsional’noe rukovodstvo. Pod red. N.P. Bochkova, E.K. Gintera, V.P. Puzyreva / M.: GEOTAR-Media, 2013; 936 s. (in Russ.)].
  3. Nasledstvennye bolezni. Natsional'noe rukovodstvo: kratkoe izdanie. Pod red E.K. Gintera / M.: GEOTAR-Media, 2017; 464 s. [Nasledstvennye bolezni. Natsional’noe rukovodstvo: kratkoe izdanie. Pod red E.K. Gintera / M.: GEOTAR-Media, 2017; 464 s. (in Russ.)].
  4. Dedov I.I. Eponimicheskie sindromy v endokrinologii / M.: Praktika, 2013; 172 s. [Dedov I.I. Eponimicheskie sindromy v endokrinologii / M.: Praktika, 2013; 172 s. (in Russ.)].
  5. MKB-10. Kratkij variant, osnovannyj na Mezhdunarodnoj statisticheskoj klassifikatsii boleznej i problem, svjazannyh so zdorov'em, 10-go peresmotra, prinjatoj 43-j Vsemirnoj assambleej zdravoohranenija [Elektronnyj resurs]. [MKB-10. Kratkii variant, osnovannyi na Mezhdunarodnoi statisticheskoi klassifikatsii boleznei i problem, svyazannykh so zdorov’em, 10-go peresmotra, prinyatoi 43-ei Vsemirnoi Assambleei Zdravookhraneniya [Elektronnyi resurs] (in Russ.)]. URL: http://base.garant.ru/4100000/#ixzz4auASnc7Q
  6. Tozlijan E.V. Sindrom Pradera–Villi v praktike pediatra // Praktika pediatra. – 2014; 2: 32–9 [Tozliyan E.V. Sindrom Pradera–Villi v praktike pediatra // Praktika pediatra. – 2014; 2: 32–9 (in Russ.)].
  7. Han M., Gerasimidis K., Edwards C. et al. Mechanisms of obesity in Prader–Willi syndrome // Pediatric Obesity. – 2016; 13 (1): 3–13. DOI: 10.1111/ijpo.12177.
  8. Smith A., Hung D. The dilemma of diagnostic testing for Prader–Willi syndrome // Transl. Pediatr. – 2017; 6 (1): 46–56. DOI: 10.21037/tp.2016.07.04.
  9. Cassidy S., Schwartz S., Miller J. et al. Prader–Willi syndrome // Genet. Med. – 2012; 14 (1): 10–26. DOI: 10.1038/gim.0b013e31822bead0.
  10. Jarkova N.A., Borovkov N.N., Amineva N.V. Rol' arterial'noj gipertenzii v razvitii hronicheskoj bolezni pochek u bol'nyh saharnym diabetom tipa 2 // Med. al'manah. – 2013; 6 (30): 173–5 [Yarkova N.A., Borovkov N.N., Amineva N.V. The role of arterial hypertension in the development of chronic disease of kidneys of patients with type 2 diabetes mellitus // Med. al’manakh. – 2013; 6 (30): 173–5 (in Russ.)].
  11. Grugni G., Marzullo P. Diagnosis and treatment of GH deficiency in Prader–Willi syndrome // Best Pract. Res. Clin. Endocrinol. Metab. – 2016; 30 (6): 785–94. DOI: 10.1016/j.beem.2016.11.003.
  12. Sode-Carlsen R., Farholt S., Rabben K. et al. Growth hormone treatment in adults with Prader–Willi syndrome: the Scandinavian study // Endocrine. – 2012; 41 (2): 191–9. DOI: 10.1007/s12020-011-9560-4.
  13. Deal C., Tony M., Höybye C. et al. 2011 Growth Hormone in Prader–Willi Syndrome Clinical Care Guidelines Workshop Participants. Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader–Willi syndrome // J. Clin. Endocrinol. Metab. – 2013; 98 (6): E1072–87. DOI: 10.1210/jc.2012-3888.
  14. Bridges N. What is the value of growth hormone therapy in Prader–Willi syndrome? // Arch. Dis. Child. – 2014; 99 (2): 166–70. DOI: 10.1136/archdischild-2013-303760.