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Clinical case of a patient with Prader - Willi syndrome

https://doi.org/10.18093/0869-0189-2023-33-2-273-278

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.

About the Authors

G. S. Nuralieva
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
Russian Federation

Galiya S. Nuralieva - Candidate of Medicine, Associate Professor, Department of Pulmonology, N.V.Sklifosovsky Institute of Clinical Medicine I.M. Sechenov First Moscow State Medical University of; Researcher, Laboratory of Intensive Care and Respiratory Failure, Federal Pulmonology Research Institute.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; Orekhovyy bul’var 28, Moscow, 115682; tel.: (495) 395-63-93
Competing Interests:

The authors declare no conflict of interest



K. Yu. Kryuchkova
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)
Russian Federation

Kira Yu. Kryuchkova - 5th year student.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; tel.: (495) 395-63-93
Competing Interests:

The authors declare no conflict of interest



V. M. Anokhina
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)
Russian Federation

Valeria M. Anokhina - 5 th year student.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; tel.: (495) 395-63-93
Competing Interests:

The authors declare no conflict of interest



A. A. Bolotskaya
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)
Russian Federation

Anastasia А. Bolotskaya - 5th year student.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; tel.: (495) 395-63-93
Competing Interests:

The authors declare no conflict of interest



M. M. Kozhevnikova
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)
Russian Federation

Maria M. Kozhevnikova - 5 th year student.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; tel.: (495) 395-63-93
Competing Interests:

The authors declare no conflict of interest



I. S. Avdeev
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)
Russian Federation

Ivan S. Avdeev - 4 th year student.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; tel.: (499) 245-47-94
Competing Interests:

The authors declare no conflict of interest



G. V. Nekludova
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
Russian Federation

Galina V. Nekludova - Doctor of Medicine, Associate Professor, Department of Pulmonology, I.M. Sechenov FMSMU; Leading Researcher, Laboratory of Functional and Ultrasound Research Methods, Federal Pulmonology Research Institute.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; Orekhovyy bul’var 28, Moscow, 115682; tel.: (495) 465-53-84
Competing Interests:

The authors declare no conflict of interest



V. V. Gaynitdinova
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)
Russian Federation

Viliya V. Gaynitdinova - Doctor of Medicine, Professor of Pulmonology Department.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; tel.: (499) 780-08-50
Competing Interests:

The authors declare no conflict of interest



M. R. Khaziakhmetova
State Budgetary Healthcare Institution “City Clinical Hospital named after D.D. Pletnev of the Department of Health of Moscow City”
Russian Federation

Milyaush R. Khaziakhmetova, Head of the Department of Endocrinology.

Ul. Odinnadtsataya Parkovaya 32, Moscow, 105077; tel.: (495) 465-58-9
Competing Interests:

The authors declare no conflict of interest



S. N. Avdeev
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
Russian Federation

Sergey N. Avdeev - Doctor of Medicine, Professor, Academician of Russian Academy of Sciences, Vice-Rector for Research and Innovation, Head of the Department of Pulmonology, N.V.Sklifosovsky ICM, I.M.Sechenov First Moscow SMU MH RF; Leading Researcher, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; Director, National Medical Research Center for the profile “Pulmonology”, Chief Freelance Pulmonologist of the Ministry of Health of the RF.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; Orekhovyy bul’var 28, Moscow, 115682; tel.: (499) 246-75-18; тел.: (499) 246-75-18
Competing Interests:

The authors declare no conflict of interest



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Review

For citations:

Nuralieva G.S., Kryuchkova K.Yu., Anokhina V.M., Bolotskaya A.A., Kozhevnikova M.M., Avdeev I.S., Nekludova G.V., Gaynitdinova V.V., Khaziakhmetova M.R., Avdeev S.N. Clinical case of a patient with Prader - Willi syndrome. PULMONOLOGIYA. 2023;33(2):273-278. (In Russ.) https://doi.org/10.18093/0869-0189-2023-33-2-273-278

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