ABSTRACT
BACKGROUND: Prolidase deficiency is a rare autosomal recessive disease, in which pulmonary manifestations have been sporadically reported. AIMS: We have encountered two patients who presented with severe pulmonary cystic lesions leading to respiratory failure. This led us to retrospectively evaluate pulmonary involvement in patients with prolidase deficiency treated in our hospital. RESULTS: Of 21 patients (including the 2 mentioned above), 12 had a history of recurrent pulmonary infections and 10 were diagnosed as having chronic lung disease. Of seven chest CT scans performed, four patients had subpleural cysts, two patients had bronchiectatic changes, and one had diffused ground glass attenuation and minor linear atelectasis. Three patients died, with all deaths being attributed to respiratory insufficiency. CONCLUSIONS: Prolidase deficiency is frequently associated with various pulmonary manifestations, including extensive cystic changes that may be life endangering. The differential diagnosis of bilateral cystic changes should include prolidase deficiency, and pulmonary evaluation should be performed in patients with prolidase deficiency. Pediatr Pulmonol. 2016;51:1229-1233. © 2016 Wiley Periodicals, Inc.
Subject(s)
Bronchiectasis/etiology , Prolidase Deficiency/complications , Respiratory Insufficiency/etiology , Adult , Bronchiectasis/diagnostic imaging , Bronchiectasis/physiopathology , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Prolidase Deficiency/diagnostic imaging , Prolidase Deficiency/physiopathology , Respiratory Insufficiency/diagnostic imaging , Respiratory Insufficiency/physiopathology , Retrospective Studies , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: Bronchial hyper-responsiveness assessed by the methacholine challenge test (MCT) may aid in the diagnosis of asthma, while a negative MCT can help in excluding the diagnosis. Laboratory measures that predict the results of MCT are expected to reduce the number of procedures. We evaluated the capacity of serum high-sensitivity C-reactive protein (hs-CRP) to predict positive or negative MCT in school-aged children and compared it to a marker of airway inflammation, fractional exhaled nitric oxide (FeNO), and markers of allergic sensitization, immune globulin E (IgE) and peripheral blood eosinophils. PATIENTS AND METHODS: Children aged 6-18 years referred for MCT were included in the study. The results of the MCT were compared to hs-CRP levels and FeNO levels, IgE, and peripheral blood eosinophil counts. RESULTS: Of the 131 children assessed, 63 (48 %) patients had positive MCTs (Group I), and 68 (52 %) had negative MCTs (Group II). The best cut-off values to predict a positive MCT by receiver-operating characteristic curves were: 23 ppb for FeNO, 120 IU/mL for IgE, and 500/mL for eosinophils; no cut-off value was found for hs-CRP. The odds ratio for a positive MCT with the above cut-off points were 2.43 (1.05-5.61) for FeNO, 2.4 (1.01-5.74) for IgE, 3.32 (1.13-9.75) for eosinophils, and NS for hs-CRP. No correlation was found between hs-CRP and FeNO, IgE, or eosinophil levels. CONCLUSIONS: hs-CRP levels were not helpful, while FeNO, IgE, and eosinophils were useful in the prediction of methacholine bronchial hyper-responsiveness in our group of children.
