共 75 条
Respiratory system abnormalities in Prader-Willi syndrome: a literature review
被引:0
作者:
Com, Gulnur
[1
]
Santhanam, Haripriya
[2
]
Ergun-Longmire, Berrin
[2
]
机构:
[1] Univ Florida, Pediat Pulmonol Med, Pensacola, FL USA
[2] Western Michigan Univ, Homer Stryker MD Sch Med, Dept Pediat & Adolescent Med, 1000 Oakland Dr, Kalamazoo, MI 49008 USA
来源:
PEDIATRIC MEDICINE
|
2023年
/
6卷
关键词:
Prader-Willi syndrome (PWS);
obstructive and central sleep apnea (OSA and CSA);
respiratory failure;
mortality;
GROWTH-HORMONE TREATMENT;
BODY-COMPOSITION;
THYROID-FUNCTION;
SLEEP-APNEA;
CHILDREN;
DEATH;
THERAPY;
MORTALITY;
HYPOGONADISM;
DISORDERS;
D O I:
10.21037/pm-21-102
中图分类号:
R72 [儿科学];
学科分类号:
100202 ;
摘要:
Background and Objective: Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypotonia and failure to thrive in infancy, followed by hyperphagia and obesity later in life. Phenotypic features include obesity, shot stature, small hands and feet, almond -shaped eyes, and narrow bifrontal diameter. There is multisystem involvement with cognitive, behavioral, and endocrine abnormalities including growth hormone deficiency (GHD), hypogonadism, and obesity from hyperphagia, with its attendant complications of type 2 diabetes mellitus and metabolic syndrome. Additionally, PWS is associated with respiratory system abnormalities due to generalized hypotonia, obesity, and scoliosis that affect the mechanics of respiration, as well as impaired ventilatory and arousal responses to hypercapnia and hypoxia. Respiratory failure is the leading cause of mortality in individuals with PWS, making early diagnosis and the treatment of respiratory problems crucial for their survival. This review summarizes and updates the current knowledge about the mechanisms and screening recommendations for respiratory system abnormalities associated with PWS. Methods: The only English -language literature search was conducted via PubMed, MeSH, and Google Scholar with keywords that included "Prader-Willi syndrome" and "respiratory" between 1976 and 2021. Additional papers were found via references from articles related to the original search. Key Content and Findings: A total of 2,111 review articles were identified with keyword "PWS". When we added keywords "respiratory" or "respiratory failure" to PWS, 171 articles were detected. Of those, 74 articles were selected for inclusion based on their relevance to the objectives of this article. Conclusions: Respiratory system abnormalities in PWS include abnormalities in respiratory control, dysphagia and silent aspiration, abnormal chest wall and pulmonary mechanics, and sleep -disordered breathing. Consideration of the respiratory problems that occur in PWS and the effect of growth hormone treatment (GHT) on these problems contributes significantly to improving prognosis of these individuals. Reports of unexpected mortality with GHT in a subset of PWS patients have raised concerns over safety, though a causal relationship between growth hormone (GH) and sudden death has not been demonstrated. The recommendations are to perform a sleep study, and treat any obstructive sleep apnea (OSA) or respiratory -compromising obesity, prior to initiation of GH.
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