Non-invasive APV in a child with the syndrome of central alveolar hypoventilation

Cover Page

Abstract


Introduction: the syndrome of congenital central alveolar hypoventilation (SCCAH) is characterized by disturbed autonomic control of breathing (most frequently, while sleeping) in the structure of the autonomic nervous system general dysfunction. SCCAH is an orphan disease. In Russia, 29 children were diagnosed the same in 2018 (based on data provided by the Association of parents who have children with SCCAH). Purpose: successful experience of using non-invasive pulmonary ventilation as a method of restoring the central respiratory function in a child with SCCAH is of clinical interest. Materials and methods: we present a clinical case of managing a child with genetically confirmed SCCAH from the pediatric department of anesthesiology and resuscitation at Almazov National Medical Research Center prior to discharge. Conclusion: in the presented case, stable gas exchange was achieved against the background of 18-day staged adaptation to non-invasive pulmonary ventilation while sleeping only. The adaptation was selected as a method of chronic respiratory support. The child was discharged from the hospital at the age of 4 months and 14 days in a stable condition having equipment for respiratory support and monitoring. In every case of SCCAH, selection of additional ventilation method must be individually tailored.

About the authors

D. V. Gorshkov

Almazov National Medical Research Centre

Author for correspondence.
Email: dmitrijgors21@yandex.ru

Russian Federation

Dmitrii V. GORSHKOV – Anesthesiologist‑resuscitator of Department of Anaesthesiology and Resuscitation for children

Kolomyazhsky Av., 21, b.2, Saint‑Petersburg, 197341
phone: +7(812)702–37–49 

D. V. Novoseltsev

Almazov National Medical Research Centre

Email: fake@neicon.ru

Russian Federation

Dmitrii V. NOVOSELTSEV – Head of Department of Anaesthesiology and Resuscitation for children

Kolomyazhsky Av., 21, b.2, Saint‑Petersburg, 197341

M. A. Pritsan

Almazov National Medical Research Centre

Email: fake@neicon.ru

Russian Federation

Mariya A. PRITSAN – Anesthesiologist‑resuscitator of Department of Anaesthesiology and Resuscitation for children

Kolomyazhsky Av., 21, b.2, Saint‑Petersburg, 197341

N. A. Petrova

Almazov National Medical Research Centre

Email: fake@neicon.ru

Russian Federation

Natal’ya A. PETROVA – Ph D., assistant of the Faculty of children’s diseases

Kolomyazhsky Av., 21, b.2, Saint‑Petersburg, 197341

N. Yu. Kolbina

Almazov National Medical Research Centre

Email: fake@neicon.ru

Russian Federation

Natal’ya Yu. KOLBIN – Head of Department of Pediatrics and Rehabilitation № 1

Kolomyazhsky Av., 21, b.2, Saint‑Petersburg, 197341

M. S. Shchekoldina

Almazov National Medical Research Centre

Email: fake@neicon.ru

Russian Federation

Margarita S. SHCHEKOLDINA – Pediatrician of Department of Pediatrics and Rehabilitation № 1

Kolomyazhsky Av., 21, b.2, Saint‑Petersburg, 197341

References

  1. Paton J., Swaminathan S., Sargent C., Keens T. Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome. Am. Rev. Respir. Dis. 1989;140:368–72 doi: 10.1164/ajrccm/140.2.368
  2. Butin M., Labbe G., Vrielynck S., Franco P., Massenavette B., Bellon G., Reix P. (2012). Syndrome d’Ondine à révélation tardive: revue de la littérature à propos d’un cas. Arch. Pediatr. 2012;19:1205–7
  3. Гузева В. И., Лахори А. Е., Глебовская О. И., Егиазарова И. И. Врождённый центральный гиповентиляционный синдром (синдром проклятия Ундины). Нейрохирургия и неврология детского возраста. 2015;3(45):25–35
  4. Забненкова В. В., Галеева Н. М., Чухрова А. Л., Поляков А. В. Синдром врожденной центральной гиповентиляции: клинические особенности, молекулярно-генетические причины, ДНК-диагностика. Медицинская генетика. 2017;16(3):46–52
  5. Кривцова Л. А., Дорофеева Л. К., Кологреев В. А., Ламыкина О. П. Клинический случай врожденного центрального гиповентиляционного синдрома. Вопросы диагностики в педиатрии. 2010;2:40–43
  6. Острейков И. Ф., Соколов Ю. Ю., Мизерницкий Ю. Л., Козлова С. И., Шеин В. Н., Заплатников А. Л., Никитин В. В. Врождённый центральный гиповентиляционный синдром (клинический случай синдрома Ундины). Земский врач 2012;2(13):39–41.
  7. Петрова Н. А., Галеева Н. М., Петренко Ю. В., Киселева Н. С., Мамаева Т. В., Якунин С. А., Ильина И. В., Мызникова И. В., Полякова Е. В., Иванов Д. О. Клиническое наблюдение новорожденного с синдромом центральной альвеолярной гиповентиляции. Трансляционная медицина. 2013;22(5):83–90
  8. Толстова Е. М., Зайцева Н. С., Зайцева О. В., Мезенцева Д. А., Ефимова Е. В., Исаева Е. К., Строганов И. А., Абасеева Т. Ю., Радимова Е. Р., Ионова Е. А. Синдром врожденной центральной гиповентиляции («синдром проклятия Ундины»). РМЖ. 2018;2(5):92–95
  9. Шень Н. П., Мухачева С. Ю., Швечкова М. В., Бочкарева Н. А. Клинический случай синдрома врожденной центральной гиповентиляции у родильницы. Анестезиология и реаниматология. 2016;61(6):453–455 doi: 10.18821/0201–7563–2016–61–6–453–455
  10. Severinghaus J., Mitchell R. Ondine’s curse-failure of respiratory center automaticity while awake. Clin. Res. 1962;10:122
  11. Mellins R. B., Balfour H. H., Turino G. M., Winters R. W. Failure of automatic control of ventilation (Ondine’s curse). Report of an infant born with this syndrome and review of the literature. Medicine (Baltimore) 1970 Nov;49(6):487–504
  12. Amiel J., Laudier B., Attie-Bitach T., Trang H., de Pontual L., Gener B., Trochet D., Etchevers H., Ray P., Simonneau M., Vekemans M., Munnich A., Gaultier C., Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet. 2003;33:459–61 doi: 10.1038/ng1130
  13. Weese-Mayer D.E., Berry-Kravis E.M., Ceccherini I., Keens T. G., Loqhmanee D. A., Trang H.. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am. J. Respir. Crit. Care. Med. 2010;181:626–44 doi: 10.1164/rccm.200807–1069ST
  14. Loghmanee D. A., Rand C. M., Zhou L., Berry-Kravis E.M., Jennings L. J., Yu M., Weese-Mayer D. E. Paired-like homeobox gene 2b (PHOX2B) and congenital central hypoventilation syndrome (CCHS): genotype/phenotype correlation in cohort of 347 cases. Am. J. Respir. Crit. Care. Med. 2009;179:A6341 doi: 10.1164/ajrccm-conference.2009.179.1
  15. Marics G., Amiel J., Vatai B., Lódi C., Mikos B., Tóth-Heyn P. Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome. Acta. Paediatr. 2013 Apr.;102(4):e178–80 doi: 10.1111/apa.12125
  16. Weese-Mayer D.E., Hunt C. E., Brouillette R. T., Silvestri J. M. Diaphragm pacing in infants and children. J. Pediatr. 1992;120:1–8 doi: 10.1016/s0022–3476(05)80588–8

Statistics

Views

Abstract - 65

PDF (Russian) - 0

PlumX

Dimensions

Refbacks

  • There are currently no refbacks.


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies