TY - JOUR
T1 - First description of obstructive sleep apnea and its clinical consequences on quality of life in Bardet-Biedl syndrome
AU - Viggiano, Domenico
AU - Santoriello, Carlo
AU - Ferretti, Alfonso
AU - Malgieri, Gabriele
AU - Polverino, Francesca
AU - Polverino, Mario
PY - 2008
Y1 - 2008
N2 - A patient with Bardet-Biedl Syndrome (BBS), on the basis of frequent presence of obstructive sleep apnea in obese, snoring patients, was evaluated by a polisomnograhic (PSG) study. The PSG showed severe obstructive sleep apnea (RDI=45.7; Sat HbO2<90% for 98% of sleep time). The patient was successfully treated with nasal-continuous positive airway pressure (n-CPAP), and after three months, a PSG control demonstrated a strong reduction of respiratory distress index (RDI), normalization of oxyhemoglobin saturation recording and some other clinical improvements (arterial blood pressure, serum creatinine and protein-C-reactive). This is the first report of OSAS in BBS. We believe that is important to inquire further into the presence of sleep apnea in this genetic disorder, because the recognition that some of the clinical findings could be caused or worsened by OSAS may lead to adequate therapy and improve the clinical course and quality of life of the affected individuals.
AB - A patient with Bardet-Biedl Syndrome (BBS), on the basis of frequent presence of obstructive sleep apnea in obese, snoring patients, was evaluated by a polisomnograhic (PSG) study. The PSG showed severe obstructive sleep apnea (RDI=45.7; Sat HbO2<90% for 98% of sleep time). The patient was successfully treated with nasal-continuous positive airway pressure (n-CPAP), and after three months, a PSG control demonstrated a strong reduction of respiratory distress index (RDI), normalization of oxyhemoglobin saturation recording and some other clinical improvements (arterial blood pressure, serum creatinine and protein-C-reactive). This is the first report of OSAS in BBS. We believe that is important to inquire further into the presence of sleep apnea in this genetic disorder, because the recognition that some of the clinical findings could be caused or worsened by OSAS may lead to adequate therapy and improve the clinical course and quality of life of the affected individuals.
KW - Bardet-Biedl syndrome
KW - Nasal-continuous positive airway pressure
KW - Obstructive sleep apnea
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U2 - 10.1016/j.rmedc.2008.04.006
DO - 10.1016/j.rmedc.2008.04.006
M3 - Article
AN - SCOPUS:49149106205
SN - 1755-0017
VL - 1
SP - 182
EP - 184
JO - Respiratory Medicine CME
JF - Respiratory Medicine CME
IS - 2
ER -