- Alveolar capillary dysplasia
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Alveolar capillary dysplasia Classification and external resources OMIM 265380 Alveolar capillary dysplasia (ACD, also congenital alveolar dysplasia) is a very rare congenital malformation involving abnormal development of the capillary vascular system around the alveoli of the lungs. It is a rare cause of persistent pulmonary hypertension in infants.[1] It also may be a rare cause of pulmonary hypoplasia.[2] The outcome is neonatal death. One of the longest surviving infants lived 2 months.[3]
Babies with ACD may appear normal at birth but within minutes or hours they develop respiratory distress with persistent pulmonary hypertension.[4] ACD does not respond to standard therapies that resolve simple pulmonary hypertension. The lack of response is an important diagnostic clue.
Contents
Cause
ACD is a genetic disorder. This is known because ACD has been reported in multiple families. There is more than one form of ACD. In some families, a form of ACD known as alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) has been linked to the gene FOXF1 on chromosome 16 q24.1-q24.2.[5]
Diagnosis
ACD commonly is diagnosed postmortem, by a pathologist.
Sometimes ACD is diagnosed clinically.[6] This is common when there is a family history of ACD, but rare otherwise. A clinical differential diagnosis of ACD excludes fetal atelectasis.[4]
ACD is not detectable by prenatal imaging. However, some babies with ACD have associated congenital malformations that are detectable by imaging. The identification of genes involved in ACD offers the potential for prenatal testing and genetic counseling.
Treatment
Most babies with ACD have normal Apgar scores at 1 and 5 minutes, but within minutes or hours present with hypoxia and upon investigation are found to have hypoxemia and pulmonary hypertension. Initial treatments address the hypoxia, usually beginning with supplemental oxygen and arrangements for urgent transport to a neonatal intensive care unit.
Therapies that have been tried to extend life include extracorporeal membrane oxygenation and nitric oxide. These are supportive therapies for persistent pulmonary hypertension; they do not treat the ACD. The objective of therapy is to keep the baby alive long enough to obtain a lung transplant.[3] To date no such case has been reported.
Research
Actress NiCole Robinson and her husband Craig Snyder lost a baby to ACD; with his first wife, Craig lost two more babies to ACD. They have founded an organization to support research into ACD.
History
ACD was first described in 1948.[7][4] A familial association of ACD/MPV was first reported in 1994.[8]
References
- ^ Cater G, Thibeault DW, Beatty EC, Kilbride HW, Huntrakoon M (February 1989). "Misalignment of lung vessels and alveolar capillary dysplasia: a cause of persistent pulmonary hypertension". The Journal of Pediatrics 114 (2): 293–300. doi:10.1016/S0022-3476(89)80800-5. PMID 2915290.
- ^ Sirkin W, O'Hare BP, Cox PN, Perrin D, Cutz E, Silver MM (1997). "Alveolar capillary dysplasia: lung biopsy diagnosis, nitric oxide responsiveness, and bronchial generation count". Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association 17 (1): 125–32. PMID 9050066.
- ^ a b Kitayama Y, Kamata S, Okuyama H, Usui N, Sawai T, Kobayashi T, Fukui Y, Okada A (January 1997). "Nitric oxide inhalation therapy for an infant with persistent pulmonary hypertension caused by misalignment of pulmonary veins with alveolar capillary dysplasia". Journal of Pediatric Surgery 32 (1): 99–100. PMID 9021581.
- ^ a b c MacMahon HE (July 1948). "Congenital alveolar dysplasia of the lungs". The American Journal of Pathology 24 (4): 919–31. PMC 1942746. PMID 18874417. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1942746.
- ^ Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C (June 2009). "Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations". American Journal of Human Genetics 84 (6): 780–91. doi:10.1016/j.ajhg.2009.05.005. PMC 2694971. PMID 19500772. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2694971.
- ^ Liet JM, Joubert M, Gournay V, Godon N, Godde F, Nomballais MF, Roze JC (January 1998). "[Neonatal hypoxemia due to misaligned pulmonary vessels with alveolar capillary dysplasia]" (in French). Archives De Pédiatrie : Organe Officiel De La Sociéte Française De Pédiatrie 5 (1): 27–30. PMID 10223108.
- ^ MacMahon HE (July 1948). "Congenital alveolar dysplasia; a developmental anomaly involving pulmonary alveoli". Pediatrics 2 (1): 43–57. PMID 18874463.
- ^ Boggs S, Harris MC, Hoffman DJ, Goel R, McDonald-McGinn D, Langston C, Zackai E, Ruchelli E (January 1994). "Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression". The Journal of Pediatrics 124 (1): 125–8. doi:10.1016/S0022-3476(94)70267-5. PMID 8283361.
External links
- "ACD Association: "Searching for answers...hoping for a cure."". http://www.acd-association.com/what_is_it.php. Retrieved 14 January 2011.
Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies (1) Basic domains 1.2: Feingold syndrome · Saethre-Chotzen syndrome
1.3: Tietz syndrome(2) Zinc finger
DNA-binding domains2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis
2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome
2.3: Greig cephalopolysyndactyly syndrome/Pallister-Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2
2.5: Autoimmune polyendocrine syndrome type 1(3) Helix-turn-helix domains 3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat-Wilson syndrome)
3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)
3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)
3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)(4) β-Scaffold factors
with minor groove contacts4.2: Hyperimmunoglobulin E syndrome
4.3: Holt-Oram syndrome · Li-Fraumeni syndrome · Ulnar–mammary syndrome
4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome)
4.11: Cleidocranial dysostosis(0) Other transcription factors 0.6: Kabuki syndromeUngrouped Transcription coregulators Categories:- Rare diseases
- Lung disorders
- Pediatrics
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