ABSTRACT
INTRODUCTION: The impact of fractional exhaled nitric oxide (FENO) on the management of chronic cough (CC) is still inconclusive. The aim of the present study was to assess whether FENO is a good tool to predict the response to inhaled corticosteroids (ICS) in patients with CC. METHODS: Patients, referred for investigation of CC, had a FENO measurement determined as part of their first-line assessment. A methacholine test was performed as part of a second-line assessement. Patients were assigned to two groups according to their FENO values: a high FENO level group (â°¥25 ppb) and a normal FENO level group (<25 ppb). RESULTS: One hundred patients were included in the study. High FENO levels were found in 25 patients (25%). The proportion of patients who responded to ICS was significantly greater in the high FENO group compared to the normal FENO level group (86.4% vs 46.3%, P<0.05). FENO is a good tool to predict ICS response in patients with high FENO levels but a response to ICS cannot be ruled out in patients with normal FENO levels. In patients with normal FENO values, a methacholine test could be an interesting tool for a second-line assessment. Among the 13 patients with a positive methacholine test result, 11 responded to ICS whilst 2 did not. Of the patients with a negative methacholine test result, 3 responded to ICS whilst 13 did not. CONCLUSION: FENO may be a more reliable predictor of ICS response when used as part of a multi-step assessment procedure.
Subject(s)
Adrenal Cortex Hormones/administration & dosage , Cough/diagnosis , Cough/drug therapy , Exhalation/physiology , Nitric Oxide/analysis , Administration, Inhalation , Adult , Aged , Breath Tests/methods , Bronchial Provocation Tests , Chronic Disease , Cough/metabolism , Cough/pathology , Drug Monitoring/methods , Female , France , Humans , Male , Methacholine Chloride/pharmacology , Middle Aged , Nitric Oxide/metabolism , Predictive Value of Tests , Prognosis , Retrospective Studies , Treatment OutcomeABSTRACT
BACKGROUND: The congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxia. PHOX2B has been identified as the major gene causing CCHS. It results from polyalanine repeat expansion mutations. It typically presents in the newborn period but some cases have been described in adults (late onset CCHS) reflecting the variable penetrance of PHOX2B mutations. CASE REPORT: A 48 year-old woman presented, after ovarian cyst surgery, with severe hypoventilation requiring intubation. Arterial blood gases revealed a PaO2 of 6.6kPa (50mmHg), a PaCO2 of 10kPa (80mmHg) and a pH of 7.22. The past medical history revealed nocturnal symptoms for a few years. These included apnoeas, fitful sleep and awakening with headaches. Physical examination, pulmonary function tests, lung tomography and magnetic resonance imaging of the brainstem were all normal. Polysomnography revealed numerous central and obstructive apnoeas and hypopnoeas, with severe hypoxaemia and hypercapnia. Hypoxic and hypercapnic stimulation tests showed no adaptation of the ventilatory responses. Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene. CONCLUSION: The diagnosis of late onset CCHS should be considered in patients with unexplained hypoventilation, and physiological evaluation should be undertaken to document the abnormal ventilatory responses. The presence of a PHOX2B mutation confirms the diagnosis.
