Naslov
Cardiorespiratory complications in patients with osteogenesis imperfecta

Autori
Turkalj, Mirjana ; Miranović, Vesna ; Lulić-Jurjević, Rajka ; Gjergja Juraški, Romana ; Primorac, Dragan

Izvornik
Paediatria Croatica (1330-1403) 61 (2017), 1; 106-112

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
osteogenesis imperfecta, pulmonary disease, pulmonary funtion, lung infections, cardiovascular manifestation, prevention

Sažetak
Osteogenesis Imperfecta (OI) is the hereditary connective tissue disorder, usually caused by dominant mutations of genes coding for collagen type I alpha chains, COL1A1/A2. Although, skeletal manifestations of OI are the most readily notable, cardiopulmonary disorders among patients with OI are increasingly recognized as life-threatening but treatable disorders. Unfortunately, the majority of patients with moderate to severe types of OI die from or with cardio-pulmonary complications. The lungs as well as the heart is often an unrecognizable and neglected organ in patients with OI. In the monitoring of patients with OI the biggest attention is focused on monitoring the deformity of the long bone and spine, and indirectly the deformities of the chest wall which have consequences on development of lungs and the airways diseases. Lung disorder is frequently ignored until breathing problems become severe. An important component in patients with OI have is obstructive lung disease, sleep disordered breathing, acute as well as chronic infection often connected with resultant bronchiectasis, as well. In addition to respiratory complications, some patients with OI have serious cardiovascular problems, including severe mitral valve prolapse, aortic valve insufficiency and dilation of the aorta, which require cardiac surgery. The diagnosis and management of the lungs and cardiovascular complications in some patients with OI it is quite difficult. In all patients with OI is it important to recognize and monitor the respiratory and cardiovascular manifestation to further and prevent progression of any complications.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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