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

Journal of Medical Case Reports

Stacey L Peterson-Carmichael²  Stephanie D Davis¹  Judith A Voynow³  Courtney D Thornburg⁵  Kurtis T Sobush⁴ 

[1] Division of Pediatric Pulmonary-Critical Care, Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA;Division of Pediatric Critical Care, Duke University Medical Center, Box 3046, Erwin Road, Durham, North Carolina 27710, USA;Division of Pediatric Pulmonary and Sleep Medicine, Duke University Medical Center, Durham, North Carolina, USA;Division of Pediatric Pulmonary Medicine, Saint Louis University School of Medicine, Saint Louis, Missouri, USA;Division of Pediatric Hematology/Oncology, Duke University Medical Center, Durham, North Carolina, USA

关键词: Vaso-occlusive event;    Thalassemia;    Sickle cell;    Raised volume rapid thoracoabdominal compression;    Infant pulmonary function testing;    Hemoglobinopathy;    Cystic fibrosis;    Acute chest syndrome;   

Others  :  825706
DOI  :  10.1186/1752-1947-7-203

 received in 2013-04-04, accepted in 2013-05-31,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Sobush et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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