Clinical case of a patient with Prader - Willi syndrome-Reference-Cited by-同舟云学术

Clinical case of a patient with Prader - Willi syndrome

Published:2023-04-14 Issue:2 Volume:33 Page:273-278
ISSN:2541-9617
Container-title:PULMONOLOGIYA
language:
Short-container-title:Pulʹmonologiâ (Mosk.)

Author:

Nuralieva G. S.¹^ORCID,Kryuchkova K. Yu.²^ORCID,Anokhina V. M.²^ORCID,Bolotskaya A. A.²^ORCID,Kozhevnikova M. M.²^ORCID,Avdeev I. S.²^ORCID,Nekludova G. V.¹^ORCID,Gaynitdinova V. V.²^ORCID,Khaziakhmetova M. R.³^ORCID,Avdeev S. N.¹^ORCID

Affiliation:

1. Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University); Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia

2. Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)

3. State Budgetary Healthcare Institution “City Clinical Hospital named after D.D. Pletnev of the Department of Health of Moscow City”

Abstract

Prader — Willi syndrome (PWS) is a rate multisystem disease caused by a developmental disorder of the nervous system. The syndrome is associated with an imprinting defect, i.e. lack of expression of paternal genes on chromosome 15 q11.2q13.1. This genetic defect leads to cognitive and behavioral disorders; hypothalamic dysfunction; endocrine, cardiovascular, musculoskeletal, respiratory, and other disorders. PWS is the most frequent cause of hereditary obesity. In turn, the obesity causes the obesity-hypoventilation syndrome and respiratory failure.The aim of this article was to describe a clinical case of 28-year-old female who presented with acute hypercapnic respiratory failure.Conclusion. The patient was treated with respiratory support (non-invasive ventilation). The timely diagnosis and treatment of respiratory failure is important for the outcome as it can improve the patient’s quality of life and the life expectancy.

Publisher

Scientific and Practical Reviewed Journal Pulmonology

Subject

Pulmonary and Respiratory Medicine

Reference20 articles.

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