Molecular diagnostic of surfactant deficiency intersticial lung disease: A case report with necropsy correlation.

Chiaraluce, Franco L.; Gosso, María F.; Madeira, María F.; Nocito, Ana L.

BACKGROUND: Type 3 surfactant deficiency interstitial lung disease is an alteration caused by pathogenic variants of the ABCA3 gene, which alters surfactant metabolism and is associated with respiratory stress syndrome in term newborns. CLINICAL CASE: A 19-year-old primiparous patient with gestational diabetes and fullterm pregnancy, in adequate control, who had a male neonate with Apgar 9/10 and adequate weight for gestational age. The echocardiogram showed no alterations and the chest X-ray and tomography showed ground-glass opacity. Due to clinical and imaging progression corticosteroids and clarithromycin were indicated on suspicion of a congenital surfactant deficiency. The molecular study was requested to detect genetic variants. Two heterozygous variants of the ABCA3 gene were identified. The first consisted of a nonsense change in exon 30 (c.4681C> T, p.Arg1561Ter, rs780852398): "pathogen", according to the guidelines of the American College of Medical Genetics and Genomics. The second variant is a missense change located in exon 22 (c.3199G>A, p.Gly1067Arg, rs768754320): variant of unknown significance. At two months old, the patient died with refractory hypercapnia and hypoxemia. CONCLUSIONS: Type 3 surfactant deficiency interstitial lung disease can appear as a diffuse lung disease in children under 2 years of age, forming part of the chILD syndrome (infantile interstitial lung disease); therefore, it must be suspected for its correct diagnosis.

LUNG diseases; INTERSTITIAL lung diseases; GENETIC variation; SURFACE active agents; MEDICAL genetics

Patologia Revista Latinoamericana, 2021, Vol 59, p1

0185-4305

Academic Journal

10.24245/patrl.v59id.4897