THREE CASES WİTH INTERTİTİAL LUNG DİSEASE: WHAT ARE THE CAUSES?
DOI:
https://doi.org/10.46793/PP190224013SKeywords:
Interstitial lung diseases, genetics, etiology, childhoodAbstract
Diagnosis of interstitial lung diseases is quite difficult in childhood. There are no firmly pathognomonic feature of the disease. Frequently, it can mimic many other lung diseases. At the same time, there are many genetically unexplained varieties, new mutations arise every day and confuse the underlying genetic basis. Therefore, in order to be able to elucidate the genetic etiology of patients with similar phenotype, clinical data should be collected and analysed. International network of the confirmed and suspected cases should be established
In this case series, we report three children with interstitial lung disease who had similar clinical findings and family histories but genetically remained unexplained.
References
Hilman BC. Diagnosis and treatment of ILD. Pediatr Pulmonol. 1997 Jan;23(1):1-7.
Young LR, Trapnell BC, Mandl KD, Swarr DT, Wambach JA, Blaisdell JC. Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health–NHLBI Workshop, September 3 and 4, 2015. Ann Am Thorac Soc. 2016 Dec; 13(12): 385–393.
Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, et al. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med 2008;205:2703–2710.
Nogee LM, de Mello DE, Dehner LP, Colten HR. Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med 1993;328:406–410.
Hamvas A, Deterding RR, Wert SE, White FV, Dishop MK, Alfano DN, Halbower AC, Planer B, Stephan MJ, Uchida DA, et al. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest2013;144:794–804.
Hartl D, Griese M. Interstitial lung disease in children – genetic background and associated phenotypes. Respir Res. 2005; 6(1): 32
du Bois RM. The genetic predisposition to interstitial lung disease: functional relevance. Chest. 2002 Mar;121(3 Suppl):14S-
