Respiratory system involvement and follow-up of children with inherited metabolic diseases

Abstract

Introduction: Respiratory system involvement in inherited metabolic diseases (IMD) causes morbidity and mortality.

Aims: To evaluate respiratory system findings, involvement and complications of patients with IMD.

Methods: Gender, age at diagnosis and admission to pediatric pulmonology department, respiratory system findings and pulmonary function test results of all children with IMD were evaluated.

Results: Of 166 patients with IMD, 14.4% were female and median age at diagnosis was 18 (min:0.5; max:120) months. Median age of admission to pediatric pulmonology was 29 (min:1.5; max:198) months. The most common IMD were MPS, Niemann-Pick Disease, Gaucher Disease, and metabolic myopathy. 48 had interstitial lung disease, 47 had upper airway obstruction and obstructive sleep apnea syndrome, 25 had chest deformity, 22 had lower airway infection, 22 had chronic respiratory failure, and 5 had pulmonary hypertension. The most frequent respiratory symptoms were cough, tachypnea, wheezing, shortness of breath and snoring. Physical examination findings related to respiratory involvement were present in 145 (87.3%) patients. 12 patients had tracheostomy and were using mechanical ventilation. The median of FEV1, FVC, FEV1/FVC, FEF25-75 were 52% (min:31; max:122), 47% (min:26; max:111), 109 (min:77; max:117) and 48% (min:25; max:132), respectively. 9 patients died due to respiratory system involvement. Patients died at younger ages who admitted to pediatric pulmonology at older age (p=0.038).

Conclusions: Pulmonary involvement of IMD can be cause of mortality, so clinical suspicion and early diagnosis of lung involvement are important. Respiratory system therapy may improve prognosis of patients with IMD.