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A 2-year-old girl with co-inherited cystic fibrosis and sickle cell-β+ thalassemia presenting with recurrent vaso-occlusive events during cystic fibrosis pulmonary exacerbations: a case report.

Sobush KT, Thornburg CD, Voynow JA, Davis SD, Peterson-Carmichael SL - J Med Case Rep (2013)

Bottom Line: A 2-year-old African-American girl with co-inherited cystic fibrosis and sickle cell-β+ thalassemia developed severe hematologic complications (recurrent vaso-occlusive events, hepatic sequestration, and acute chest syndrome) during periods of cystic fibrosis pulmonary exacerbations and weight loss.Infant pulmonary function testing data demonstrated moderate-to-severe lower airways obstruction, moderate air trapping, and no evidence of restrictive lung disease.Although this is an original case report on a unique patient, this case highlights the need to evaluate early respiratory pathophysiology in a broader population of young patients with hemoglobinopathies and screen those at risk for early pulmonary co-morbidities.

View Article: PubMed Central - HTML - PubMed

Affiliation: Division of Pediatric Pulmonary and Sleep Medicine, Duke University Medical Center, Durham, North Carolina, USA. stacey.peterson-carmichael@duke.edu.

ABSTRACT

Introduction: This is the first published report of a young girl with co-inherited sickle cell-β+ thalassemia and cystic fibrosis. Although a small subset of patients with co-inherited cystic fibrosis and other hemoglobinopathies have been reported, this patient developed early hematologic and pulmonary complications that were more severe than the previous cases. To assess pulmonary co-morbidities, we used infant pulmonary function testing through the raised volume rapid thoracoabdominal compression technique as both an established study of early cystic fibrosis and also as a newer study of mechanism for early sickle cell lung disease. This further serves as the first report of the raised volume rapid thoracoabdominal compression technique to determine raised volume forced expiratory flows and fractional lung volumes in a patient with a hemoglobinopathy.

Case presentation: A 2-year-old African-American girl with co-inherited cystic fibrosis and sickle cell-β+ thalassemia developed severe hematologic complications (recurrent vaso-occlusive events, hepatic sequestration, and acute chest syndrome) during periods of cystic fibrosis pulmonary exacerbations and weight loss. Because cystic fibrosis and sickle cell-β+ thalassemia both confer distinct patterns of pulmonary disease, infant pulmonary function testing with the raised volume rapid thoracoabdominal compression technique was used to define respiratory pathophysiology and guide treatment options. Infant pulmonary function testing data demonstrated moderate-to-severe lower airways obstruction, moderate air trapping, and no evidence of restrictive lung disease.

Conclusions: Infant pulmonary function testing with the raised volume rapid thoracoabdominal compression technique guided therapy in this patient with cystic fibrosis and sickle cell-β+ thalassemia. Although this is an original case report on a unique patient, this case highlights the need to evaluate early respiratory pathophysiology in a broader population of young patients with hemoglobinopathies and screen those at risk for early pulmonary co-morbidities.

No MeSH data available.


Related in: MedlinePlus

Pulmonary function testing data. A. Acquired at 2 years of age using the raised volume rapid thoracoabdominal compression technique along with whole body plethysmography. Normative data by Castile et al. and Jones et al. [4,6]. B. Acquired at 4 years of age using classical spirometry and whole body plethysmography. FVC- Forced vital capacity; FEV0.5 - Forced expiratory volume in 0.5 second; FEF25-75 - Forced expiratory flow between 25 and 75% of the FVC; FEF75 - Forced expiratory flow at 75% of the FVC; FEF85 - Forced expiratory flow at 85% of the FVC; TLC- Total lung capacity; FRC- Functional residual capacity; RV- Residual volume; FEV1 – Forced expiratory volume in 1 second; VC- Vital capacity.
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Figure 1: Pulmonary function testing data. A. Acquired at 2 years of age using the raised volume rapid thoracoabdominal compression technique along with whole body plethysmography. Normative data by Castile et al. and Jones et al. [4,6]. B. Acquired at 4 years of age using classical spirometry and whole body plethysmography. FVC- Forced vital capacity; FEV0.5 - Forced expiratory volume in 0.5 second; FEF25-75 - Forced expiratory flow between 25 and 75% of the FVC; FEF75 - Forced expiratory flow at 75% of the FVC; FEF85 - Forced expiratory flow at 85% of the FVC; TLC- Total lung capacity; FRC- Functional residual capacity; RV- Residual volume; FEV1 – Forced expiratory volume in 1 second; VC- Vital capacity.

Mentions: Infant lung function testing was performed using the RVRTC technique which elevates the lung volume of infants to near total lung capacity prior to performing a rapid thoracic compression maneuver. These forced expiratory flows from raised lung volumes were obtained after sedation with chloral hydrate according to American Thoracic Society/European Respiratory Society guidelines and approximate adult-type lung function maneuvers [5]. Post-bronchodilator results were not obtained due to lack of sedative effects near the end of testing. IPFT data (Figure 1A) demonstrate moderate-to-severe lower airways obstruction, moderate air trapping, and no evidence of restrictive lung disease.


A 2-year-old girl with co-inherited cystic fibrosis and sickle cell-β+ thalassemia presenting with recurrent vaso-occlusive events during cystic fibrosis pulmonary exacerbations: a case report.

Sobush KT, Thornburg CD, Voynow JA, Davis SD, Peterson-Carmichael SL - J Med Case Rep (2013)

Pulmonary function testing data. A. Acquired at 2 years of age using the raised volume rapid thoracoabdominal compression technique along with whole body plethysmography. Normative data by Castile et al. and Jones et al. [4,6]. B. Acquired at 4 years of age using classical spirometry and whole body plethysmography. FVC- Forced vital capacity; FEV0.5 - Forced expiratory volume in 0.5 second; FEF25-75 - Forced expiratory flow between 25 and 75% of the FVC; FEF75 - Forced expiratory flow at 75% of the FVC; FEF85 - Forced expiratory flow at 85% of the FVC; TLC- Total lung capacity; FRC- Functional residual capacity; RV- Residual volume; FEV1 – Forced expiratory volume in 1 second; VC- Vital capacity.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3750320&req=5

Figure 1: Pulmonary function testing data. A. Acquired at 2 years of age using the raised volume rapid thoracoabdominal compression technique along with whole body plethysmography. Normative data by Castile et al. and Jones et al. [4,6]. B. Acquired at 4 years of age using classical spirometry and whole body plethysmography. FVC- Forced vital capacity; FEV0.5 - Forced expiratory volume in 0.5 second; FEF25-75 - Forced expiratory flow between 25 and 75% of the FVC; FEF75 - Forced expiratory flow at 75% of the FVC; FEF85 - Forced expiratory flow at 85% of the FVC; TLC- Total lung capacity; FRC- Functional residual capacity; RV- Residual volume; FEV1 – Forced expiratory volume in 1 second; VC- Vital capacity.
Mentions: Infant lung function testing was performed using the RVRTC technique which elevates the lung volume of infants to near total lung capacity prior to performing a rapid thoracic compression maneuver. These forced expiratory flows from raised lung volumes were obtained after sedation with chloral hydrate according to American Thoracic Society/European Respiratory Society guidelines and approximate adult-type lung function maneuvers [5]. Post-bronchodilator results were not obtained due to lack of sedative effects near the end of testing. IPFT data (Figure 1A) demonstrate moderate-to-severe lower airways obstruction, moderate air trapping, and no evidence of restrictive lung disease.

Bottom Line: A 2-year-old African-American girl with co-inherited cystic fibrosis and sickle cell-β+ thalassemia developed severe hematologic complications (recurrent vaso-occlusive events, hepatic sequestration, and acute chest syndrome) during periods of cystic fibrosis pulmonary exacerbations and weight loss.Infant pulmonary function testing data demonstrated moderate-to-severe lower airways obstruction, moderate air trapping, and no evidence of restrictive lung disease.Although this is an original case report on a unique patient, this case highlights the need to evaluate early respiratory pathophysiology in a broader population of young patients with hemoglobinopathies and screen those at risk for early pulmonary co-morbidities.

View Article: PubMed Central - HTML - PubMed

Affiliation: Division of Pediatric Pulmonary and Sleep Medicine, Duke University Medical Center, Durham, North Carolina, USA. stacey.peterson-carmichael@duke.edu.

ABSTRACT

Introduction: This is the first published report of a young girl with co-inherited sickle cell-β+ thalassemia and cystic fibrosis. Although a small subset of patients with co-inherited cystic fibrosis and other hemoglobinopathies have been reported, this patient developed early hematologic and pulmonary complications that were more severe than the previous cases. To assess pulmonary co-morbidities, we used infant pulmonary function testing through the raised volume rapid thoracoabdominal compression technique as both an established study of early cystic fibrosis and also as a newer study of mechanism for early sickle cell lung disease. This further serves as the first report of the raised volume rapid thoracoabdominal compression technique to determine raised volume forced expiratory flows and fractional lung volumes in a patient with a hemoglobinopathy.

Case presentation: A 2-year-old African-American girl with co-inherited cystic fibrosis and sickle cell-β+ thalassemia developed severe hematologic complications (recurrent vaso-occlusive events, hepatic sequestration, and acute chest syndrome) during periods of cystic fibrosis pulmonary exacerbations and weight loss. Because cystic fibrosis and sickle cell-β+ thalassemia both confer distinct patterns of pulmonary disease, infant pulmonary function testing with the raised volume rapid thoracoabdominal compression technique was used to define respiratory pathophysiology and guide treatment options. Infant pulmonary function testing data demonstrated moderate-to-severe lower airways obstruction, moderate air trapping, and no evidence of restrictive lung disease.

Conclusions: Infant pulmonary function testing with the raised volume rapid thoracoabdominal compression technique guided therapy in this patient with cystic fibrosis and sickle cell-β+ thalassemia. Although this is an original case report on a unique patient, this case highlights the need to evaluate early respiratory pathophysiology in a broader population of young patients with hemoglobinopathies and screen those at risk for early pulmonary co-morbidities.

No MeSH data available.


Related in: MedlinePlus