Journal of Applied Physiology, Vol 77, Issue 5 2224-2230, Copyright © 1994 by American Physiological Society

ARTICLES

Hypoxic and hypercapnic ventilatory responses in Prader-Willi syndrome

R. Arens, D. Gozal, K. J. Omlin, F. R. Livingston, J. Liu, T. G. Keens and S. L. Ward
Division of Neonatology, Childrens Hospital Los Angeles.

Abnormalities of ventilatory control may play a significant role in the pathophysiology of sleep-disordered breathing in patients with the Prader-Willi syndrome (PWS). We measured rebreathing hypercapnic and hypoxic ventilatory responses (HCVR and HPVR, respectively) during wakefulness in 8 nonobese PWS (NOB-PWS) and 9 obese PWS (OB-PWS) patients and compared their results with those from 24 healthy nonobese control (NOB-CON) and 10 obese control (OB-CON) subjects. The slope of HCVR was similar in NOB-PWS patients and NOB-CON subjects (NS). However, HCVR was significantly lower in OB-PWS patients than in OB-CON subjects (P < 0.02). In PWS patients, the mean point of origin of the positive slope of HCVR occurred at a significantly higher end-tidal PCO2 than in either control group. During isocapnic hypoxic challenges, six PWS patients had no significant HPVR. In the remainder, mean slopes of HPVR were -0.80 +/- 0.06 l.min-1.%arterial O2 saturation-1 in five NOB-PWS patients and -0.68 +/- 0.15 l.min-1.%arterial O2 saturation-1 in six OB-PWS patients. These responses were significantly decreased compared with those in the control groups (P < 0.006). We conclude that NOB-PWS patients have normal HCVR, which is blunted in OB-PWS patients. Furthermore, isocapnic HPVR is either absent or markedly reduced in PWS patients. The severity of abnormality of the HPVR is independent of the degree of obesity. We postulate that the primary abnormality of ventilatory control in PWS affects peripheral chemoreceptor pathways.

This article has been cited by other articles:

				P Stafler and C Wallis Prader-Willi syndrome: who can have growth hormone? Arch. Dis. Child., April 1, 2008; 93(4): 341 - 345. [Abstract] [Full Text] [PDF]

				J. Miller, J. Silverstein, J. Shuster, D. J. Driscoll, and M. Wagner Short-Term Effects of Growth Hormone on Sleep Abnormalities in Prader-Willi Syndrome J. Clin. Endocrinol. Metab., February 1, 2006; 91(2): 413 - 417. [Abstract] [Full Text] [PDF]

				S Deane and A Thomson Obesity and the pulmonologist Arch. Dis. Child., February 1, 2006; 91(2): 188 - 191. [Abstract] [Full Text] [PDF]

				S. Pagliardini, J. Ren, R. Wevrick, and J. J. Greer Developmental Abnormalities of Neuronal Structure and Function in Prenatal Mice Lacking the Prader-Willi Syndrome Gene Necdin Am. J. Pathol., July 1, 2005; 167(1): 175 - 191. [Abstract] [Full Text] [PDF]

				J. Ren, S. Lee, S. Pagliardini, M. Gerard, C. L. Stewart, J. J. Greer, and R. Wevrick Absence of Ndn, Encoding the Prader-Willi Syndrome-Deleted Gene necdin, Results in Congenital Deficiency of Central Respiratory Drive in Neonatal Mice J. Neurosci., March 1, 2003; 23(5): 1569 - 1573. [Abstract] [Full Text] [PDF]

				R. Kessler, A. Chaouat, P. Schinkewitch, M. Faller, S. Casel, J. Krieger, and E. Weitzenblum The Obesity-Hypoventilation Syndrome Revisited : A Prospective Study of 34 Consecutive Cases Chest, August 1, 2001; 120(2): 369 - 376. [Abstract] [Full Text] [PDF]

				C. L. MARCUS Sleep-disordered Breathing in Children Am. J. Respir. Crit. Care Med., July 1, 2001; 164(1): 16 - 30. [Full Text] [PDF]