A 5-year follow-up of pulmonary function tests in childhood-onset systemic lupus erythematosus: a single-center retrospective study.

SIGNIFICANCE: Pulmonary involvement in childhood-onset systemic lupus erythematosus (cSLE), contributes to significant morbidity and mortality. Manifestations include chronic interstitial pneumonitis, pneumonia, pleuritis, alveolar hemorrhage, and shrinking lung syndrome. However, many patients can be asymptomatic from a respiratory standpoint and still have pulmonary function test (PFT) abnormalities. Our aim is to describe PFT abnormalities in patients with cSLE. METHODS: We completed a retrospective review of 42 patients with cSLE followed at our center. These patients were at least 6 years old (so they could complete PFTs). We collected data from July 2015 to July 2020. RESULTS: Out of the 42 patients, 10 (23.8%) had abnormal PFTs. These 10 patients had a mean age at diagnosis of 13 ± 2.9 years. Nine were female. One-fifth (20%) self-identified as Hispanic, 20% as Asian, 10% as Black or African American, and the remaining 50% as "Other." Of the 10, 3 had restrictive disease only, 3 with diffusion impairment only, and 4 with both restrictive lung disease and diffusion impairment. Patients with restrictive patterns had a mean total lung capacity (TLC) of 72.5 ± 5.8 throughout the study period. The average diffusing capacity for carbon monoxide corrected for hemoglobin (DsbHb) among patients with diffusion limitation during the study period was 64.8 ± 8.3. CONCLUSIONS: The most common PFT abnormalities seen in patients with cSLE are alterations in diffusing capacity as well as restrictive lung disease.

Clinical evidence that V456A is a Cystic Fibrosis causing mutation in South Asians.

BACKGROUND: Cystic Fibrosis (CF) genotypes in South Asians are variable with a decreased incidence of Delta F508 and an increased incidence of novel mutations. The objective of this study is to provide clinical evidence that V456A, a novel mutation in South Asian Cystic Fibrosis patients, can cause significant lung disease. METHODS: We extracted clinical data from a retrospective chart review of 2 CF patients of South Asian descent. RESULTS: Patient 1, a 10 year and 11 month old Pakistani female at her initial clinic visit, required multiple hospitalizations for bronchiectasis and pulmonary infections. She was pancreatic sufficient but had slow weight gain. Genetic testing revealed that she is homozygous for the CFTR V456A mutation. Patient 2, an Indian female diagnosed with CF on newborn screening, is compound heterozygous for V456A/R709X. She had slow weight gain with BMI ranging from 12.9 to 13.4 kg/m(2) from 3 to 5 years of age and was 14.2 kg/m(2) at 6 years of age. At 6 years of age, pulmonary function tests revealed mild lung disease with FVC of 71%, FEV(1) of 75%, FEF(25-75) of 119%, and FEV(1)/FVC of 86% predicted. Sputum cultures were intermittently positive for Staphylococcus aureus and Haemophilus influenza. CONCLUSIONS: We provide evidence that V456A can cause significant pulmonary disease in South Asian Cystic Fibrosis patients.