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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.


Anteroposterior chest radiograph from a newborn baby boy showing bilateral diffuse hazy granular pulmonary opacification
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Fig1: Anteroposterior chest radiograph from a newborn baby boy showing bilateral diffuse hazy granular pulmonary opacification

Mentions: We describe the case of a full-term Colombian newborn baby boy who was the product of a primigravid mother, and non-consanguineous parents of mixed race ancestry (Mestizo). Fetal monitoring at the 37th week gestational age showed continuous decelerations. A caesarean section was performed and he was delivered with severe respiratory depression. Management with noninvasive positive-pressure ventilation was started without success. He was transferred to our intensive care unit and intubation was performed. An echocardiogram showed moderate pulmonary hypertension. Chest X-rays showed complete bilateral opacity of both lungs. Initial treatment with artificial surfactant was offered without success (Fig. 1).Fig. 1


Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report
Anteroposterior chest radiograph from a newborn baby boy showing bilateral diffuse hazy granular pulmonary opacification
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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

Fig1: Anteroposterior chest radiograph from a newborn baby boy showing bilateral diffuse hazy granular pulmonary opacification
Mentions: We describe the case of a full-term Colombian newborn baby boy who was the product of a primigravid mother, and non-consanguineous parents of mixed race ancestry (Mestizo). Fetal monitoring at the 37th week gestational age showed continuous decelerations. A caesarean section was performed and he was delivered with severe respiratory depression. Management with noninvasive positive-pressure ventilation was started without success. He was transferred to our intensive care unit and intubation was performed. An echocardiogram showed moderate pulmonary hypertension. Chest X-rays showed complete bilateral opacity of both lungs. Initial treatment with artificial surfactant was offered without success (Fig. 1).Fig. 1

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.