How to Cite
Abstract
Grechanina Yu., Bugaeva E., Biletska S.
The article describes the case of the combination of an orphan monogenic disease (Undine syndrome) with a violation of the methylation cycle (epigenetic status) and mitochondrial dysfunction. Correction of concomitant metabolic disorders has allowed to improve the quality of life of the child.
Key words: Undine syndrome, synthropy, methylation, mitochondrial dysfunction
КЛІНІЧНИЙ СПОСІБ УСПІШНОЇ РЕАБІЛІТАЦІЇ ДИТИНИ З СИНДРОМОМ УНДІНИ (ВРОДЖЕНИЙ ЦЕНТРАЛЬНИЙ ГІПОВЕНТИЛЯЦІЙНИЙ СИНДРОМ, СИНДРОМ УНДІНИ, ОМІМ 209880)
Гречаніна Ю., Бугаєва О., Білецька С.
У статті описаний випадок поєднання орфанного моногенного захворювання (синдром Ундини) з порушенням циклу метилювання (епігенетичного статусу) і мітохондріальної дисфункції. Корекція супутніх обмінних порушень дозволила поліпшити якість життя дитини.
Ключові слова: синдром Ундини, сінтропія, метилювання, мітохондріальна дисфункція
КЛИНИЧЕСКИЙ СПОСОБ УСПЕШНОЙ РЕАБИЛИТАЦИИ РЕБЕНКА С СИНДРОМОМ УндинЫ (ВРОЖДЕННЫЙ ЦЕНТРАЛЬНЫЙ ГИПОВЕНТИЛЯЦИОННЫЙ СИНДРОМ, СИНДРОМ УНДИНЫ, ОМИМ 209880)
Гречанина Ю., Бугаева О., Билецкая С.
В статье описан случай сочетания орфанного моногенного заболевания (синдром Ундины) с нарушением цикла метилирования (эпигенетического статуса) и митохондриальной дисфункции. Коррекция сопутствующих обменных нарушений позволила улучшить качество жизни ребёнка.
Ключевые слова: синдром Ундины, синтропия, метилирование, митохондриальная дисфункция
References
Congenital central hypoventilation syndrome. Genetics Home Reference. U.S. National Library of Medicine. Retrieved 5 June 2015.
www.orpha.net
Jazeela Fayyaz, Zab Mosenifar, M, ed. Hypoventilation Syndromes. – Medscape.
Ostreikov I.F., Sokolov Yu.Yu., Mizernitskiy Yu.L, Kozlova S.I., Shein V.I., Zaplatnikov A.L., Nikitin V.V. (2012) Vrozhdenniy centralniy hipoventilyacionniy sindrom (klinicheskiy sluchay sindroma Undini) (Congenital central Hypoventilation Syndrome (clinical case of Undine Syndrome)). Zemskiy vrach, no 2 (13)
Congenital Central Hypoventilation Syndrome. Retrieved from eMedicine: http://emedicine.medscape.com/article/1002927-overview
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series (2013). Journal of Medical Case Reports, 2, 128-6
Lovell BL, Bullock RE, Anderson KN (2010). An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse). Emerg Med J., 27 (3), 237–8.
Windisch W, Hennings E, Storre J, Matthys H, Sorichter S (2004). Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support. Respiration, 71 (2), 195–8.
CCHS Family Network: http://cchsnetwork.org/
Primary alveolar hypoventilation: Ondine's curse. (2010). A.D.A.M. Medical Encyclopedia. U.S. National Library of Medicine.
Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I (2009). Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr. Pulmonol., 44, 521–35.
Long, K. J.; Allen, N. (1984). Abnormal brain-stem auditory evoked potentials following Ondine's curse. Arch. Neurol., 41 (10), 1109–10.
Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, et al. (2003). Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet., 33, 1–3.
Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C (2005). The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest., 127 (1), 72–9.
Gaultier C; Amiel J.; Dauger S; et al. (2004). Genetics and early disturbances of breathing control. Pediatr. Res., 55 (5), 729–33.
Gaultier C, Trang H, Dauger S, Gallego J (2005). Pediatric disorders with autonomic dysfunction: what role for PHOX2B? Pediatr. Res., 58 (1), 1–6.
Gene secret of mythical cure: http://news.bbc.co.uk/2/hi/health/2996791.stm
Kincaid PK, Dietrich RB, Pais MJ (1994). Pediatric case of the day. Neurocristopathy (Ondine-Hirschsprung syndrome). Radiographics, 14 (5), 1139–43.
Todd ES, Weinberg SM, Berry-Kravis EM, et al. (2006). Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr. Res., 59 (1), 39–45.
Krivcova L.A., Safonova T.I., Dorofeeva L.K. et al (2010). Klinicheskiy sluchay vrozhdennogo centralnogo hipoventilyacionnogo sindroma (Clinical case of Congenital Central Hypoventilation Syndrome). Voprosi diagnostiki v pediatrii, no 2 (2), pp 40–43.
Poceta, J. S.; Strandjord, T. P.; Badura, R. J.; Milstein, J. M. (1987). Undine curse and neurocristopathy. Pediatr. Neurol., 3 (6), 370–2.
American thoracic society. Idiopathic congenital central hypoventilation syndrome. Am J Respir Crit Care Med, 160, 368-73
Grechanina Ye. Ya et al (2010). Zakonomernaya svyaz mezhdu razvitiem nekotorich epigeneticheskich bolezney i narusheniem metilirovaniya DNK vsledstbie deficit fermentov folatnogo cicla (The natural connection between the development of some epigenetic diseases and the violation of DNA methylation due to a deficiency of folate cycle enzymes). Repository KhNMU, http://repo.knmu.edu.ua/handle/123456789/628
Poluektov M.G., Blohin B.M., Tarasenko E.S. (2012). Vrozhdenniy centralniy hipoventilyacionniy sindrom (klinicheskiy sluchay sindroma Undini) (Congenital central Hypoventilation Syndrome (clinical case of Undine Syndrome)). Zemskiy vrach, no 2 (12).
Guilleminault C., McQuitty J., Ariagno R.L. et al. (1982). Congenital central alveolar hypoventilation syndrome in six infants. Pediatrics., 70, 684–694
De Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghoussi V, et al. (2003). Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine’s curse). Hum. Mol. Genet., 12, 3173–80.
Haddad Y.Y., Mazza N.M., Defendini R. et all. (1978). Congenital failure of automatik control of ventilation, gastrointestinal mobiliti and heart rate. Medicine (Baltimore), 57, 517–526.
Marazita ML, Maher BS, Cooper ME, Silvestri JM, Huffman AD, Smok-Pearsall SM, et al. (2001). Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. Am. J. Med. Genet., 100(3), 229-36.
Nannapaneni R, Behari S, Todd NV, Mendelow AD (2005). Retracing "Undine's curse". Neurosurgery, 57 (2), 354–63.
Patwari PP, Lareau S, Sockrider M, Weese-Mayer DE. (2010). Congenital central hypoventilation syndrome (CCHS). American Thoracic Society Patient Information Series. Am. J. Respir. Crit. Care Med., 182, 4–5.
Sudden Death Due to Central Alveolar Hypoventilation Syndrome (Ondines Curse) in a 39-Year-Old Woman With Heterotopia of the Inferior Olive (2007). Article in American Journal of Forensic Medicine & Pathology, 28(2), 141-4
Takeda, S.; Fujii, Y.; Kawahara, H.; Nakahara, K.; Matsuda H (1996). Central alveolar hypoventilation syndrome (Undine's curse) with gastroesophageal reflux. Chest., 110 (3), 850–852.
Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. (2010). Congenital Central Hypoventilation Syndrome Subcommittee.; аn official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am. J. Respir. Crit. Care Med., 181, 626–44.
Weese-Mayer D.E., Shannon D.C., Keens T.G., Silvestri J.M. (1999). American Thoracic Society Statement. Idiopathic congenital central hypoventilation syndrome. Diagnosis and management. Am. J. Respir. Crit. Care Med., 160, 368–373.
"Inter Collegas" is an open access journal: all articles are published in open access without an embargo period, under the terms of the CC BY-NC-SA (Creative Commons Attribution ‒ Noncommercial ‒ Share Alike) license; the content is available to all readers without registration from the moment of its publication. Electronic copies of the archive of journals are placed in the repositories of the KhNMU and V.I. Vernadsky National Library of Ukraine.
Copyright Agreement
1. This Agreement on the transfer of rights to use the work from the Co-authors to the publisher (hereinafter the Agreement) is concluded between all the Co-authors of the work, represented by the Corresponding Author, and Kharkiv National Medical University (hereinafter the University), represented by an authorized representative of the Editorial Board of scientific journals (hereinafter the Editorial Board).
2. This Agreement is an accession agreement within the meaning of clause 1 of Article 634 of the Civil Code of Ukraine: that is, a contract, "the terms of which are established by one of the parties in forms or other standard forms, which can be concluded only by joining the other party to the proposed contract as a whole. The other party cannot offer its terms of the contract." The party that established the terms of this contract is the University.
3. If there is more than one author, the authors choose the Corresponding Author, who communicates with the Editorial Board on his own behalf and on behalf of all Co-authors regarding the publication of a written work of a scientific nature (article or review, hereinafter referred to as the Work).
4. The contract begins from the moment of submission of the manuscript of the Work by the Corresponding Author to the Editorial Board, which confirms the following:
4.1. all Co-authors of the Work are familiar with and agree with its content, at all stages of reviewing and editing the manuscript and the existence of the published Work;
4.2. all Co-authors of the Work are familiar with and agree to the terms of this Agreement.
5. The published Work is in electronic form in public access on the websites of the University and any websites and electronic databases in which the Work is posted by the University and is available to readers under the terms of the "Creative Commons" license (Attribution NonCommercial Sharealike 4.0 International)" or more free licenses "Creative Commons 4.0".
6. The Corresponding Author transfers, and the University receives, the non-exclusive property right to use the Work by placing the latter on the University's websites for the entire term of copyright. The University participates in the creation of the final version of the Work by reviewing and editing the manuscript of the article or review provided to the Editorial Board by the Corresponding Author, translating the Work into any languages. For the participation of the University in the finalization of the Work, the Co-authors agree to pay the invoice issued to them by the University, if such payment is provided by the University. The size and procedure of such payment are not the subject of this contract.
7. The University has the right to reproduce the Work or its parts in electronic and printed forms, to make copies, permanent archival storage of the Work, distribution of the Work on the Internet, repositories, scientometric databases, commercial networks, including for monetary compensation from third parties.
8. The co-authors guarantee that the manuscript of the Work does not use works whose copyright belongs to third parties.
9. The authors of the Work guarantee that at the time of submission of the manuscript of the Work to the Editorial Board, the property rights to the Work belong only to them, neither in whole nor in part have they been transferred to anyone (not alienated), they are not the subject of a lien, litigation or claims by third parties.
10. The Work may not be posted on the University's website if it violates a person's right to the privacy of his personal and family life, harms public order and health.
11. The work may be withdrawn by the Editorial Board from the University websites, libraries and electronic databases where it was placed by the Editorial Board, in cases of detection of violations of the ethics of the authors and researchers, without any compensation for the losses of the Co-authors. At the time of submission of the manuscript to the Editorial Board and all stages of its editing and review, the manuscript must not have already been published or submitted to other editorial offices.
12. The right transferred under this Agreement extends to the territory of Ukraine and foreign countries.
13. The rights of Co-authors include the requirement to indicate their names on all copies of the Work or during any public use or public mention of the Work; the requirement to preserve the integrity of the Work; legal opposition to any distortion or other encroachment on the Work, which may harm the honor and reputation of the Co-authors.
14. Co-authors have the right to control their personal non-property rights by familiarizing themselves with the text (content) and form of the Work before its publication on the University's website, when transferring it to a printing company for reproduction or when using the Work in other ways.
15. The Co-authors, in addition to the property rights not transferred under this Agreement and taking into account the non-exclusive nature of the rights transferred under this Agreement, retain the property rights to finalize the Work and to use certain parts of the Work in other works created by the Co-authors.
16. The Co-authors are obliged to notify the Editorial Board of all errors in the Work, discovered by them independently after the publication of the Work, and to take all measures to eliminate such errors as soon as possible.
17. The University undertakes to indicate the names of the Co-authors on all copies of the Work during any public use of the Work. The list of Co-authors may be shortened according to the rules for the formation of bibliographic descriptions determined by the University or third parties.
18. The University undertakes not to violate the integrity of the Work, to agree with the Corresponding Author on all changes made to the Work during processing and editing.
19. In case of violation of their obligations under this Agreement, its parties bear the responsibility defined by this Agreement and the current legislation of Ukraine. All disputes under the Agreement are resolved through negotiations, and if the negotiations do not resolve the dispute – in the courts of the city of Kharkiv.
20. The parties are not responsible for the violation of their obligations under this Agreement, if it occurred through no fault of theirs. The party is considered innocent if it proves that it has taken all measures dependent on it for the proper fulfillment of the obligation.
21. The Co-authors are responsible for the truthfulness of the facts, quotes, references to legislative and regulatory acts, other official documentation, the scientific validity of the Work, all types of responsibility to third parties who have claimed their rights to the Work. The co-authors reimburse the University for all costs caused by claims of third parties for infringement of copyright and other rights to the Work, as well as additional material costs related to the elimination of identified defects.