Clinical case of a patient with Prader - Willi syndrome

Q4 Medicine

Pulmonologiya Pub Date : 2023-04-14 DOI:10.18093/0869-0189-2023-33-2-273-278

G. Nuralieva, K. Y. Kryuchkova, V. Anokhina, A. A. Bolotskaya, M. M. Kozhevnikova, I. Avdeev, G. Nekludova, V. Gaynitdinova, M. R. Khaziakhmetova, S. Avdeev

引用次数: 0

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.

查看原文本刊更多论文

Prader - Willi综合征1例临床分析

Prader - Willi综合征(PWS)是一种由神经系统发育障碍引起的多系统疾病。该综合征与印迹缺陷有关，即在第15号染色体q11.2q13.1上缺乏父系基因的表达。这种遗传缺陷会导致认知和行为障碍;下丘脑功能障碍;内分泌、心血管、肌肉骨骼、呼吸等疾病。PWS是遗传性肥胖最常见的原因。反过来，肥胖导致肥胖-低通气综合征和呼吸衰竭。本文报告一28岁女性急性高碳酸血症性呼吸衰竭的临床病例。患者给予呼吸支持(无创通气)治疗。呼吸衰竭的及时诊断和治疗对预后至关重要，因为它可以改善患者的生活质量和预期寿命。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Pulmonologiya Medicine-Pulmonary and Respiratory Medicine

CiteScore

1.40

自引率

0.00%

发文量

期刊介绍： The aim of this journal is to state a scientific position of the Russian Respiratory Society (RRS) on diagnosis and treatment of respiratory diseases based on recent evidence-based clinical trial publications and international consensuses. The most important tasks of the journal are: -improvement proficiency qualifications of respiratory specialists; -education in pulmonology; -prompt publication of original studies on diagnosis and treatment of respiratory diseases; -sharing clinical experience and information about pulmonology service organization in different regions of Russia; -information on current protocols, standards and recommendations of international respiratory societies; -discussion and consequent publication Russian consensus documents and announcement of RRS activities; -publication and comments of regulatory documents of Russian Ministry of Health; -historical review of Russian pulmonology development. The scientific concept of the journal includes publication of current evidence-based studies on respiratory medicine and their discussion with the participation of Russian and foreign experts and development of national consensus documents on respiratory medicine. Russian and foreign respiratory specialists including pneumologists, TB specialists, thoracic surgeons, allergists, clinical immunologists, pediatricians, oncologists, physiologists, and therapeutists are invited to publish article in the journal.