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

Kurtis T Sobush,Stephanie D Davis,Courtney D Thornburg,Stacey L Peterson-Carmichael,Judith A Voynow

doi:10.1186/1752-1947-7-203

Abstract

IntroductionThis 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 presentationA 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.ConclusionsInfant 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.

Highlights

This is the first published report of a young girl with co-inherited sickle cell-β+ thalassemia and cystic fibrosis
Infant pulmonary function testing (IPFT) using the raised volume rapid thoracoabdominal compression (RVRTC) technique has been applied as a clinical tool and research aid to assess early airway obstruction and air trapping in infants with Cystic fibrosis (CF) [1] and in infants with cough or wheeze unresponsive to bronchodilators [2]
We present a novel case of a young girl with coinherited CF and sickle cell-β+ thalassemia (S-βthal)

Summary

Conclusions

The co-inheritance of CF and a hemoglobinopathy is relatively rare, the use of infant lung function testing as detailed in this report may be of benefit to a broader population of young children with SCD. With the advanced technology allowed by the RVRTC technique, young patients with SCD may have their lung function followed longitudinally. Should this population have evidence of early lung disease, IPFT could become an additional screening tool to allow for earlier interventions that could minimize the progression of chronic lung disease in SCD. Authors’ contributions KS collected and analyzed infant pulmonary function case data and was the major contributor in writing the manuscript. SPC collected and analyzed infant pulmonary function case data, contributed to certain aspects of the written manuscript, and offered critical revision pertaining to pulmonary aspects of this case, in particular as it related to IPFT.

Introduction

Discussion

Findings

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