Skip to main content

Main menu

  • Home
  • Current issue
  • ERJ Early View
  • Past issues
  • Authors/reviewers
    • Instructions for authors
    • Submit a manuscript
    • Open access
    • COVID-19 submission information
    • Peer reviewer login
  • Alerts
  • Podcasts
  • Subscriptions
  • ERS Publications
    • European Respiratory Journal
    • ERJ Open Research
    • European Respiratory Review
    • Breathe
    • ERS Books
    • ERS publications home

User menu

  • Log in
  • Subscribe
  • Contact Us
  • My Cart

Search

  • Advanced search
  • ERS Publications
    • European Respiratory Journal
    • ERJ Open Research
    • European Respiratory Review
    • Breathe
    • ERS Books
    • ERS publications home

Login

European Respiratory Society

Advanced Search

  • Home
  • Current issue
  • ERJ Early View
  • Past issues
  • Authors/reviewers
    • Instructions for authors
    • Submit a manuscript
    • Open access
    • COVID-19 submission information
    • Peer reviewer login
  • Alerts
  • Podcasts
  • Subscriptions

Supine volume drop and diaphragmatic function in adults with Pompe disease

Hélène Prigent, David Orlikowski, Pascal Laforêt, Nadège Letilly, Line Falaize, Nadine Pellegrini, Djillali Annane, Jean-Claude Raphael, Frédéric Lofaso
European Respiratory Journal 2012 39: 1545-1546; DOI: 10.1183/09031936.00169011
Hélène Prigent
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
David Orlikowski
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Pascal Laforêt
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Nadège Letilly
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Line Falaize
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Nadine Pellegrini
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Djillali Annane
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jean-Claude Raphael
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Frédéric Lofaso
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: f.lofaso@rpc.aphp.fr
  • Article
  • Figures & Data
  • Info & Metrics
  • PDF
Loading

To the Editors:

The onset of the adult form of Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a slow progressive muscular disorder in which little correlation exists between respiratory function and locomotor function [1]. The greater degree of respiratory dysfunction, compared with mobility loss, is mainly ascribable to the predominant and progressive involvement of the diaphragm [1].

The prominent diaphragmatic dysfunction in Pompe disease, together with the recent introduction of enzyme replacement therapy in adults, indicate a need for clarifying respiratory outcomes in adult-onset Pompe disease [2]. An international database of medical information on patients with Pompe disease has been set up by Genzyme Corporation (Cambridge, MA, USA), a manufacturer of replacement enzymes (www.pomperegistry.com). The only parameter recommended in the Genzyme Pompe registry for assessing diaphragmatic function is vital capacity (VC) in the upright position. However, it has been demonstrated in a population of patients with suspected diaphragmatic weakness that the supine VC drop provided a good estimate of diaphragmatic dysfunction [3–5]. The aim of the current study was to determine the relationship between invasive diaphragmatic indices and noninvasive respiratory function variables in patients with adult-onset Pompe disease.

We retrospectively retrieved data from the clinical files of patients with adult-onset Pompe disease at the respiratory laboratory of the Raymond Poincaré Teaching Hospital (Garches, France) between 2002 and 2010 for diaphragmatic muscle evaluation. Our study was approved by the French Commission Nationale de l’Informatique et des Libertés in accordance with current French legislation.

Lung and respiratory muscle function were evaluated with noninvasive and transdiaphragmatic pressure (Pdi) measurements, performed on two different days. Pulmonary function testing was performed with a SensorMedics Vmax 229 (Yorba Linda, CA, USA) according to standard guidelines in the upright and supine positions and reported as per cent predicted [6]. Maximal sniff nasal inspiratory pressure (SNIP) and maximal inspiratory pressure (PI,max) were measured from the functional residual capacity (FRC) in the upright position. Maximal expiratory pressure (PE,max) was measured at the total pulmonary capacity. The highest value of each measurement method was used. Pdi was measured as the difference between gastric and oesophageal pressures recorded using a catheter-mounted pressure-transducer system (Gaeltec, Duncegan, UK). Cervical magnetic phrenic nerve stimulation via a 90-mm circular coil powered by a Magstim stimulator (Magstim 2002; The Magstim Limited Company, Whitland, UK) was used to determine twitch Pdi (Pdi,tw). All magnetic stimulations were applied at FRC. Mean Pdi,tw was calculated from at least five phrenic nerve stimulations, at maximal power output, in order to achieve supramaximal stimulation [7]. Pdi was also measured during sniff manoeuvers (Pdi,sniff) and maximal inspiratory manoeuvers Pdi,max.

Correlations were sought between Pdi parameters and other respiratory function parameters (upright and supine VC, upright and supine inspiratory capacity (IC), upright expiratory reserve volume (ERV), PI,max, SNIP, and PE,max. Univariate analysis was used to evaluate the contribution of each variable. The significance level was set at 5%.

Between 2002 and 2010, 30 patients with stable adult-onset Pompe disease were referred to our respiratory laboratory. All patients had low acid α-glucosidase activity in circulating leukocytes and known gene mutations. 16 patients were receiving mechanical ventilation; five patients had a tracheotomy. SNIP was not measured in these last patients, as the presence of the tracheostomy tube would have altered the result, and PI,max was measured at the level of the sealed tracheostomy tube. Of the 16 mechanically ventilated patients, five (including two with tracheostomies) refused supine spirometry, because they were not able to tolerate the supine position without mechanical ventilation. Therefore, only PI,max, PE,max and upright spirometry (ERV, IC, and VC) were available for all 30 patients. The median VC in upright position was 51% and the interquartile range was 32–67%. The median Pdi,sniff was 19 cmH2O (interquartile range 5–29 cmH2O).

table 1 reports the results of the univariate regression analysis of invasive and noninvasive variables. All the directly measured noninvasive variables correlated with the invasive variables. According to the type of Pdi index, the closest correlation was with either PI,max or upright or supine volumes (VC or IC). The correlations were weak with variables relating to expiratory muscle function (PE,max and ERV) and were not always significant for variables assessing differences between the supine and upright positions.

View this table:
  • View inline
  • View popup
Table 1– Univariate regression analysis of transdiaphragmatic pressure (Pdi) swings during sniff manoeuvers (Pdi,sniff), maximal inspiratory manoeuvers (Pdi,max) and twitch (i.e. magnetic phrenic nerve stimulation) Pdi (Pdi,tw) on other noninvasive variables

In patients with adult-onset Pompe disease, Pdi indices correlated to all directly measured noninvasive parameters, including those evaluating the expiratory muscles, whereas they poorly correlated or did not correlate with supine VC and IC drops.

In the supine position, the hydrostatic forces displace a weakened diaphragm cranially, thus reinforcing the sucking effect of the ribcage’s inspiratory muscles on a weakened diaphragm. The result is a marked decrease in lung volumes in the supine position of patients with a diaphragmatic weakness [3]. Accordingly, in a few studies of patients with various neuromuscular disorders and various degrees of a diaphragmatic weakness, Pdi values correlated with the supine fall in VC [4–5]. Here, our patients with adult-onset Pompe disease had abnormal drops in both VC and IC in the supine position, but these drops did not correlate consistently or closely with the Pdi indices. Similarly, a study of patients with amyotrophic lateral sclerosis showed no correlation between the supine VC drop and Pdi,sniff [8]. One possible explanation for the discrepancy involves the difference in body mass index (BMI). However, in our study, BMI was not significantly associated with the VC drop (r2=0.1) or IC drop (r2=0.028). Another hypothesis is that abdominal muscle dysfunction may alter upright VC and IC, thus masking the deleterious effect of the supine position in patients with a diaphragmatic weakness. Abdominal muscle weakness without diaphragmatic weakness, as observed in spinal cord injury, increases abdominal compliance and promotes descent of the diaphragm in the upright position with a proportional decrease in the area of apposition of the diaphragm to the ribcage, which impairs the ability of the diaphragm to elevate the ribcage [9]. In contrast, the supine position places the diaphragm in a more advantageous position for ventilation [9]. The weak, but significant, correlations linking Pdi to PE,max and ERV in our patients suggests a relationship between diaphragmatic weakness and expiratory muscle weakness in adult-onset Pompe disease. Furthermore, during Pdi measurements, gastric pressure during coughing, considered the best parameter for assessing expiratory muscle function [10], correlated more closely with Pdi,sniff (r2=0.36; p<0.0005) and Pdi,max (r2=0.46; p<0.0001) than did PE,max or ERV. Whereas the supine drops in VC and IC increase with the degree of diaphragmatic weakness, greater weakness of the abdominal expiratory muscles may have the opposite effect. Finally, the observed relationship between diaphragmatic weakness and expiratory muscle weakness may explain the absent or weak negative correlations between Pdi indices and supine drops in VC and IC.

We demonstrated that Pdi indices correlated with all spirometry volumes and noninvasive maximal pressures, including those which evaluated expiratory muscles. According to the type of Pdi index, the closest correlation was with either PI,max or upright or supine volumes (VC or IC). In contrast, volume drops between the upright and supine positions, previously suggested as markers for diaphragmatic dysfunction, were unreliable, probably because concomitant expiratory muscle dysfunction altered their relationships with diaphragmatic dysfunction. Finally, upright VC remains a strong indicator in the follow-up of respiratory function in adults with Pompe disease.

Acknowledgments

We would like to thank K. Laloui (Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France) who participated in the Walton score evaluation.

Footnotes

  • Statement of Interest

    None declared.

  • ©ERS 2012

REFERENCES

  1. ↵
    1. Pellegrini N,
    2. Laforet P,
    3. Orlikowski D,
    4. et al
    . Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J 2005; 26: 1024–1031.
    OpenUrlAbstract/FREE Full Text
  2. ↵
    1. van der Ploeg AT,
    2. Clemens PR,
    3. Corzo D,
    4. et al
    . A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010; 362: 1396–1406.
    OpenUrlCrossRefPubMedWeb of Science
  3. ↵
    1. Davis J,
    2. Goldman M,
    3. Loh L,
    4. et al
    . Diaphragm function and alveolar hypoventilation. Q J Med 1976; 45: 87–100.
    OpenUrlAbstract/FREE Full Text
  4. ↵
    1. Mier-Jedrzejowicz A,
    2. Brophy C,
    3. Moxham J,
    4. et al
    . Assessment of diaphragm weakness. Am Rev Respir Dis 1988; 137: 877–883.
    OpenUrlCrossRefPubMedWeb of Science
  5. ↵
    1. Fromageot C,
    2. Lofaso F,
    3. Annane D,
    4. et al
    . Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders. Arch Phys Med Rehabil 2001; 82: 123–128.
    OpenUrlCrossRefPubMedWeb of Science
  6. ↵
    1. Quanjer PH,
    2. Tammeling GJ,
    3. Cotes JE,
    4. et al
    . Lung volumes and forced ventilatory flows. Eur Respir J 1993; 6: Suppl. 16, 5–40.
    OpenUrlFREE Full Text
  7. ↵
    1. Wragg S,
    2. Aquilina R,
    3. Moran J,
    4. et al
    . Comparison of cervical magnetic stimulation and bilateral percutaneous electrical stimulation of the phrenic nerves in normal subjects. Eur Respir J 1994; 7: 1788–1792.
    OpenUrlAbstract
  8. ↵
    1. Lechtzin N,
    2. Wiener CM,
    3. Shade DM,
    4. et al
    . Spirometry in the supine position improves the detection of diaphragmatic weakness in patients with amyotrophic lateral sclerosis. Chest 2002; 121: 436–442.
    OpenUrlCrossRefPubMedWeb of Science
  9. ↵
    1. Brown R,
    2. DiMarco AF,
    3. Hoit JD,
    4. et al
    . Respiratory dysfunction and management in spinal cord injury. Respir Care 2006; 51: 853–868.
    OpenUrlPubMedWeb of Science
  10. ↵
    1. Man WD,
    2. Kyroussis D,
    3. Fleming TA,
    4. et al
    . Cough gastric pressure and maximum expiratory mouth pressure in humans. Am J Respir Crit Care Med 2003; 168: 714–717.
    OpenUrlCrossRefPubMedWeb of Science
View Abstract
PreviousNext
Back to top
View this article with LENS
Vol 39 Issue 6 Table of Contents
European Respiratory Journal: 39 (6)
  • Table of Contents
  • Table of Contents (PDF)
  • About the Cover
  • Index by author
Email

Thank you for your interest in spreading the word on European Respiratory Society .

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Supine volume drop and diaphragmatic function in adults with Pompe disease
(Your Name) has sent you a message from European Respiratory Society
(Your Name) thought you would like to see the European Respiratory Society web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Print
Citation Tools
Supine volume drop and diaphragmatic function in adults with Pompe disease
Hélène Prigent, David Orlikowski, Pascal Laforêt, Nadège Letilly, Line Falaize, Nadine Pellegrini, Djillali Annane, Jean-Claude Raphael, Frédéric Lofaso
European Respiratory Journal Jun 2012, 39 (6) 1545-1546; DOI: 10.1183/09031936.00169011

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero

Share
Supine volume drop and diaphragmatic function in adults with Pompe disease
Hélène Prigent, David Orlikowski, Pascal Laforêt, Nadège Letilly, Line Falaize, Nadine Pellegrini, Djillali Annane, Jean-Claude Raphael, Frédéric Lofaso
European Respiratory Journal Jun 2012, 39 (6) 1545-1546; DOI: 10.1183/09031936.00169011
del.icio.us logo Digg logo Reddit logo Technorati logo Twitter logo CiteULike logo Connotea logo Facebook logo Google logo Mendeley logo
Full Text (PDF)

Jump To

  • Article
    • Acknowledgments
    • Footnotes
    • REFERENCES
  • Figures & Data
  • Info & Metrics
  • PDF

Subjects

  • Interstitial and orphan lung disease
  • Lung structure and function
  • Tweet Widget
  • Facebook Like
  • Google Plus One

More in this TOC Section

  • Obesity in COPD: the effect of water-based exercise
  • Burden of CAP in Italian general practice
  • Neutrophilia independently predicts death in tuberculosis
Show more Letters

Related Articles

Navigate

  • Home
  • Current issue
  • Archive

About the ERJ

  • Journal information
  • Editorial board
  • Reviewers
  • Press
  • Permissions and reprints
  • Advertising

The European Respiratory Society

  • Society home
  • myERS
  • Privacy policy
  • Accessibility

ERS publications

  • European Respiratory Journal
  • ERJ Open Research
  • European Respiratory Review
  • Breathe
  • ERS books online
  • ERS Bookshop

Help

  • Feedback

For authors

  • Instructions for authors
  • Publication ethics and malpractice
  • Submit a manuscript

For readers

  • Alerts
  • Subjects
  • Podcasts
  • RSS

Subscriptions

  • Accessing the ERS publications

Contact us

European Respiratory Society
442 Glossop Road
Sheffield S10 2PX
United Kingdom
Tel: +44 114 2672860
Email: journals@ersnet.org

ISSN

Print ISSN:  0903-1936
Online ISSN: 1399-3003

Copyright © 2023 by the European Respiratory Society