Alveolar capillary dysplasia with misalignment of the pulmonary veins as a cause of hypoxemic respiratory failure in a term newborn
Authors:
T. Matějek 1; A. Matějková 2; P. Solařová 3; Z. Kokštein 1; J. Malý 1
Authors‘ workplace:
Dětská klinika LF UK a FN, Hradec Královépřednosta prof. MUDr. M. Bayer, CSc.
1; Fingerlandův ústav patologie LF UK a FN, Hradec Královépřednosta prof. MUDr. A. Ryška, Ph. D.
2; Oddělení lékařské genetiky FN, Hradec Královéprimářka MUDr. M. Šenkeříková
3
Published in:
Čes-slov Pediat 2014; 69 (5): 295-300.
Category:
Case Report
Overview
Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This condition is associated with persistent pulmonary hypertension (PPHN) leading to severe respiratory failure and death. ACD/MPV is usually accompanied by a complex of congenital anomalies, especially involving gastrointestinal, cardiovascular and urogenital systems.
A term newborn is presented in this case report. The patient suffered from multiple inborn defects: hypoplastic left heart, atrioventricular septal defect with malformed mitral valve, retroesophageal subclavian artery, double right renal artery, two lobes of right lung, intestinal malrotation, annular pancreas, hypoplastic gallbladder, bilateral hydronephrosis, hydroureters, and hemivertebra Th10. Despite complete resuscitation care the girl died because of pharmacoresistant pulmonary hypertension and hypoxemic respiratory failure at the age of 21 hours. The gold standard in diagnostics of ACD/MPV represents histologic evaluation of the lung tissue by a pediatric pathologist familiar with the disorder. The characteristic histological features of ACD/MPV were found in this case. Targeted genetic testing revealed deletion in the chromosomal region 16q24.1 containing the FOX transcription factor gene cluster (including FOXF1, FOXC2, and FOXL1 genes). No deletions in this genomic region are found in different databases of genomic variants, indicating that these changes are pathogenic for ACD/MPV.
Key words:
alveolar capillary dysplasia, misalignment of the pulmonary veins, pharmacoresistant persistent pulmonary hypertension, respiratory failure, newborn, FOXF1
Sources
1. Popler J, Lesnick B, Dishop KM, et al. New coding in the International Classification of Diseases, Ninth Revision for Children’s Interstitial Lung Disease. Chest 2012; 142 (3): 774–780.
2. Janney CG, Askin FB, Kuhn G. Congenital alveolar capillary dysplasia – an unusual cause of respiratory distress in the newborn. Am J Clin Pathol 1981; 76: 722–727.
3. Sen P, Choudhury T, Smith EO, et al. Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study. Pediatr Dev Pathol 2010; 13: 354–361.
4. Bishop NB, Stankiewicz P, Steinhorn RH. Alveolar capillary dysplasia. Am J Respir Crit Care Med 2011; 184: 172–179.
5. Sen P, Yang Y, Navarro C, et al. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat 2013; 34 (6): 801–811.
6. Roth W, Bucsenez D, Blaker H. Misalignment of pulmonary vessels with alveolar capillary dysplasia: association with atrioventricular septal defect and quadricuspid pulmonary valve. Wirchow Arch 2006; 448: 375–378.
7. Shimizu T, Fukuda T, Inomata S, et al. A novel association of alveolar capillary dysplasia, atypical duodenal atresia and subglottic stenosis. J Anesth 2011; 25: 298–300.
8. Usui N, Kamiyama M, Kamata S, et al. A novel association of alveolar capillary dysplasia and duodenal atresia with paradoxical dilatation of the duodenum. J Pediatr Surg 2004; 39: 1808–1811.
9. Sen P, Thakur N, Stockton DW, et al. Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr 2004; 145: 646–651.
10. Antao B, Samuel M, Kiely E, et al. Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies. Fetal Pediatr Pathol 2006; 25: 137–145.
11. Gilbert-Barness E, Kapur RP, Oligny LL, et al. Potter’s Pathology of the Fetus, Infant and Child. 2nd ed. Mosby Elsevier, 2007: 1121–1123.
12. Stankiewicz P, Sen P, Bhatt SS, et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 andinactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 2009; 84: 780–791.
13. Yu S, Shao L, Kilbride H, et al. Haploinsufficiency of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. Am J Med Genet 2010; 152A: 1257–1262.
14. Sen P, Gerychova R, Janků P, et al. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. Eur J Hum Genet 2013; 21 (4): 474–477.
15. Navrátilová M, Hornychová H, Kokštein Z, Malý J. Kongenitální deficit surfaktantu v důsledku mutace v genu pro ABCA3 jako příčina fatálního respiračního selhání. Čes-slov Pediat 2013; 68 (3): 173–178.
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2014 Issue 5
Most read in this issue
- Beta-blockers in the treatment of hemangiomas in childhood
- Ethical concerns involving the newborns at risk
- The role of hepcidin in iron metabolism
- Diagnostic methods in intestinal malrotation disorders