Naslov
Obstructive sleep apnea in patients with PRader-Willi syndrome

Autori
Jurić, Petra ; Jurić, Ivana ; Kajba, Lea ; Lekić, Ivan ; Marušić, Romana ; Jurić, Stjepan

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Book of abstracts OSCON 2021 / - Osijek, 2021

ISBN
978-953-7736-48-4

Skup
3rd International Translational Medicine Congress of Students and Young Physicians (OSCON 2021)

Mjesto i datum
Osijek, Hrvatska, 19.03.2021. - 20.03.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Recenziran

Ključne riječi
Prader-Willi syndrome ; obesity ; apnea ; non-invasive ventilation

Sažetak
Introduction: Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of paternally expressed genes on chromosome 15q11.2-q13. It is characterized by hypotonia followed by compulsive hyperfagia resulting in morbid obesity. Intellectual disabilities and behavioral problems, sleep-disorderd breathing, hypogonadotropic hypogonadism, short stature, scoliosis, and strabismus are also associated symptoms. High prevalence of obstructive sleep apnea (OSA) (a disorder characterized by recurrent episodes of complete or partial obstruction of the upper airway leading to reduced or absent breathing during sleep) is reported among children with PWS due to a combination of characteristic craniofacial features, obesity and hypothalamic dysfunction. Polysomnography (PSG) is the diagnostic test for the diagnosis of OSA. Case report: We present a 20-year-old female patient with PWS. Her medical history includes diabetes mellitus type 1, hypertension, and secondary amenorrhea. At age of 11, there was a sudden increase in her body weigh (body mass index (BMI) = 43) followed by snoring and pauses in breathing during sleep. Polysomnography showed increased AHI (10.2/h), which led to a diagnosis of OSA. At the age of 14, BMI 54.53, second PSG showed more increased AHI (52.4/h) and then is decided to initiate non-invasive ventilation (NIV). Since then, the patient uses NIV every night. Once a year, a PSG is performed with AHI varied from 21.04/h to 0/h. Conclusion: OSA is a relatively common, serious complication of PWS that needs to be diagnosed and treated on time. This case demonstrates the positive influence of NIV but also the negative influence of the increase of BMI on AHI.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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