Virtual International Pediatric Pulmonary Network (VIPPN)

1st Case: "Dyspnea after COVID: post-COVID syndrome or classical ILD?"

Moderator
Prof. Nazan Cobanoglu, MD

Presenter
Seda Tunca, MD

Clinical Discussant
Prof. Ozge Yilmaz, MD

Radiological Discussant
Prof. Hudaver Alper, MD

Sixteen-year-old girl presented with dyspnea. Her history was significant for dyspnea that prompted her to present to our clinic once three years ago but was lost to follow up. Family history revealed asthma in the sibling and rheumatoid arthritis in the mother. Lung auscultation was not significant except for distant lung sounds. CT findings revealed subpleural ground glass appearance in the bilateral postero-basal lung fields. Autoimmune markers were significant for ANA positivitity. Flow cytometric analysis of the lymphocyte subsets were normal. Bronchoscopy was normal and bronchoalveolar lavage cell counts were normal with CD4/CD8 ratio of 0.5. Spirometry revealed FVC 92%, FEV1 105% FEV1/FVC 115%. COVID antibodies were IgM and IgG (+). She was started on steroid treatment for post-COVID syndrome for a month. Dyspnea did not show regression and the post-treatment CT obtained at three months to follow up did not reveal regression of interstial findings in the lung fields. Therefore, lung biopsy was obtained and revealed nonspecific interstitial pneumonia. Genetic analysis for pulmonary related genes revealed heterozygous mutation in MUC5B gene.

 

2nd Case "Is there a new player in the league for CF?"

Moderator
Prof. Nazan Cobanoglu, MD

Presenter
Seda Tunca, MD

Clinical Discussant
Prof. Hasan Yuksel, MD

Radiological Discussant
Prof. Hudaver Alper, MD

Twelve months old case presented with recurrent lower respiratory tract infections, steatorrhea and growth retardation. Previous history and family history was insignificant for respiratory diseases. His sweat test conductivity levels were 107 mmol/L, 101 and 90 mmol/L, and chloride level was 71 mEq/L. Sputum cultures were positive for Pseudomonas colonization. Chest CT demonstrated tubular bronchiectasis in the right middle lobe. However, CFTR mutation analysis with sequencing did not reveal a mutation.

The c.245G>A (p.Gly82Glu) missense variant was cdetecteds in SLC26A9. This missense variant replaces Glycine by Glutamic acid  at 82nd position.

SLC26 gene analysis was also performed in the parents of the patient to evaluate the carrier of the detected possible pathogenic variant. Only his mother carried the c.245G>A mutation but she did not have any clinical findings.