RT Journal Article
SR Electronic
T1 Ventilatory chemoresponsiveness, narcolepsy–cataplexy and human leukocyte antigen DQB1*0602 status
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 577
OP 583
DO 10.1183/09031936.00174609
VO 36
IS 3
A1 F. Han
A1 E. Mignot
A1 Y.C. Wei
A1 S.X. Dong
A1 J. Li
A1 L. Lin
A1 P. An
A1 L.H. Wang
A1 J.S. Wang
A1 M.Z. He
A1 H.Y. Gao
A1 M. Li
A1 Z.C. Gao
A1 K.P. Strohl
YR 2010
UL http://erj.ersjournals.com/content/36/3/577.abstract
AB We hypothesised that hypocretin (orexin) plays a role in the determination of ventilatory chemosensitivity. 130 patients with narcolepsy–cataplexy (mean±sd age 20±10 yrs, 69% male) and 117 controls (22±6.9 yrs, 62% male) were recruited and tested for human leukocyte antigen (HLA)-DQB1*0602 status, hyperoxia hypercapnic (change in minute ventilation (δV′E)/carbon dioxide tension (δPCO2) L·min−1·mmHg−1) and hypoxic (δV′E /change in arterial oxygen saturation measured by probe oximetry (δSp,O2) L·min−1 per %Sp,O2) responsiveness, and by spirometry. Hypocretin deficiency was determined either by measures of cerebrospinal fluid hypocretin-1 (37 patients) or by positive HLA-DQB1*0602 status. All patients and 49% of controls underwent polysomnography and multiple sleep latency testing. Despite similar spirometric values, patients had a higher apnoea/hypopnoea index (AHI) (2.8±5.4 versus 0.8±1.6 h−1; p = 0.03) and lower minimal oxygen saturation during sleep (87%±7 versus 91±4%; p = 0.0002), independent of age, sex and body mass index. Patients had depressed hypoxic responsiveness (0.13±0.09 versus 0.19±0.13 L·min−1 per %Sp,O2; p<0.0001), independent of AHI, but hypercapnic responsiveness did not differ. Examined by HLA status, positive (26 out of 117) controls had lower hypoxic but similar hypercapnic responsiveness than those marker-negative (0.13±0.08 versus 0.20±0.14 L·min−1 per %Sp,O2; p<0.0001). Thus, a lower hypoxic responsiveness in the narcolepsy–cataplexy group is a result of DQB1*0602 status rather than the clinical features of disease.