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Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report

View Article: PubMed Central - PubMed

ABSTRACT

Background: Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation.

Case presentation: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain. Exons 4 and 5 of the SP-C gene showed heterozygous Thr138Asn polymorphism and homozygous Asn186Asn polymorphism respectively. At intron 25 at position –98 from exon 26 a homozygous C>T transition mutation was detected in ABCA3 gene.

Conclusions: The clinical presentation and the histopathological findings of this case are consistent with a case of neonatal respiratory failure due to surfactant deficiency. Analysis of the five coding SP-C exons does not support surfactant deficiency. An analysis of the mutation IVS25-98 T was performed and a homozygous mutation responsible for our case’s neonatal respiratory failure was detected. The findings suggest an autosomic recessive pattern of inheritance. Genetic counseling was provided and the relatives are now informed of the recurrence risks and treatment options.

No MeSH data available.


Related in: MedlinePlus

Panels a and b are different plates from the lung biopsy showing pulmonary alveolar proteinosis pattern characterized by type II pneumocytes hyperplasia, interstitial widening, and fine granular proteinosis material admixed with foamy macrophages
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Fig2: Panels a and b are different plates from the lung biopsy showing pulmonary alveolar proteinosis pattern characterized by type II pneumocytes hyperplasia, interstitial widening, and fine granular proteinosis material admixed with foamy macrophages

Mentions: Blood tests showed 38,900 leukocytes with 90 % neutrophils, but the results of all the cultures and the C-reactive protein were negative. A lung biopsy was performed. Right apical pneumothorax appeared as a complication of the procedure and was treated with a chest tube. The lung biopsy showed minimal interstitial changes, preserved alveolar architecture, hyperplasia of the alveolar epithelium (pneumocytes type 2) and a thickened septum full of mesenchymal immature cells and few inflammatory cells (some eosinophils, neutrophils, and leukocytes; Fig. 2).Fig. 2


Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report
Panels a and b are different plates from the lung biopsy showing pulmonary alveolar proteinosis pattern characterized by type II pneumocytes hyperplasia, interstitial widening, and fine granular proteinosis material admixed with foamy macrophages
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC5037624&req=5

Fig2: Panels a and b are different plates from the lung biopsy showing pulmonary alveolar proteinosis pattern characterized by type II pneumocytes hyperplasia, interstitial widening, and fine granular proteinosis material admixed with foamy macrophages
Mentions: Blood tests showed 38,900 leukocytes with 90 % neutrophils, but the results of all the cultures and the C-reactive protein were negative. A lung biopsy was performed. Right apical pneumothorax appeared as a complication of the procedure and was treated with a chest tube. The lung biopsy showed minimal interstitial changes, preserved alveolar architecture, hyperplasia of the alveolar epithelium (pneumocytes type 2) and a thickened septum full of mesenchymal immature cells and few inflammatory cells (some eosinophils, neutrophils, and leukocytes; Fig. 2).Fig. 2

View Article: PubMed Central - PubMed

ABSTRACT

Background: Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation.

Case presentation: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain. Exons 4 and 5 of the SP-C gene showed heterozygous Thr138Asn polymorphism and homozygous Asn186Asn polymorphism respectively. At intron 25 at position –98 from exon 26 a homozygous C>T transition mutation was detected in ABCA3 gene.

Conclusions: The clinical presentation and the histopathological findings of this case are consistent with a case of neonatal respiratory failure due to surfactant deficiency. Analysis of the five coding SP-C exons does not support surfactant deficiency. An analysis of the mutation IVS25-98 T was performed and a homozygous mutation responsible for our case’s neonatal respiratory failure was detected. The findings suggest an autosomic recessive pattern of inheritance. Genetic counseling was provided and the relatives are now informed of the recurrence risks and treatment options.

No MeSH data available.


Related in: MedlinePlus