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Congenital alveolar dysplasia

MedGen UID:
20539
Concept ID:
C0035220
Disease or Syndrome
Synonyms: Infantile Respiratory Distress Syndrome; Neonatal Respiratory Distress Syndrome; Respiratory Distress Syndrome, Infant; Respiratory Distress Syndrome, Newborn
SNOMED CT: Respiratory distress syndrome in neonate (46775006); Idiopathic respiratory distress syndrome (46775006); Respiratory distress syndrome of newborn (46775006); IRDS - Idiopathic respiratory distress syndrome (46775006); Respiratory distress syndrome in the newborn (46775006); Pulmonary hypoperfusion syndrome of newborn (46775006); Cardiorespiratory distress syndrome of newborn (46775006); Idiopathic respiratory distress syndrome of newborn (46775006); Congenital alveolar dysplasia (46775006); Wet lung disease of newborn (46775006); Neonatal respiratory distress syndrome (46775006)
 
HPO: HP:0033210
Monarch Initiative: MONDO:0100077

Definition

Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries. [from HPO]

Conditions with this feature

Meacham syndrome
MedGen UID:
373234
Concept ID:
C1837026
Disease or Syndrome
WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.

Professional guidelines

PubMed

Sweet DG, Carnielli VP, Greisen G, Hallman M, Klebermass-Schrehof K, Ozek E, Te Pas A, Plavka R, Roehr CC, Saugstad OD, Simeoni U, Speer CP, Vento M, Visser GHA, Halliday HL
Neonatology 2023;120(1):3-23. Epub 2023 Feb 15 doi: 10.1159/000528914. PMID: 36863329Free PMC Article
Chen IL, Chen HL
Pediatr Neonatol 2022 Jul;63(4):341-347. Epub 2022 Mar 16 doi: 10.1016/j.pedneo.2022.02.002. PMID: 35382987
Sweet DG, Carnielli V, Greisen G, Hallman M, Ozek E, Te Pas A, Plavka R, Roehr CC, Saugstad OD, Simeoni U, Speer CP, Vento M, Visser GHA, Halliday HL
Neonatology 2019;115(4):432-450. Epub 2019 Apr 11 doi: 10.1159/000499361. PMID: 30974433Free PMC Article

Recent clinical studies

Etiology

Bertolizio G, Engelhardt T, Veyckemans F
Paediatr Anaesth 2022 Feb;32(2):138-147. Epub 2021 Nov 11 doi: 10.1111/pan.14325. PMID: 34738691
Vincent M, Karolak JA, Deutsch G, Gambin T, Popek E, Isidor B, Szafranski P, Le Caignec C, Stankiewicz P
Am J Respir Crit Care Med 2019 Nov 1;200(9):1093-1101. doi: 10.1164/rccm.201903-0495TR. PMID: 31189067Free PMC Article
Dishop MK
Paediatr Respir Rev 2011 Dec;12(4):230-7. Epub 2011 Mar 5 doi: 10.1016/j.prrv.2011.01.002. PMID: 22018036

Diagnosis

Bertolizio G, Engelhardt T, Veyckemans F
Paediatr Anaesth 2022 Feb;32(2):138-147. Epub 2021 Nov 11 doi: 10.1111/pan.14325. PMID: 34738691
Bush A, Gilbert C, Gregory J, Nicholson AG, Semple T, Pabary R
Early Hum Dev 2020 Nov;150:105186. Epub 2020 Sep 15 doi: 10.1016/j.earlhumdev.2020.105186. PMID: 32958330
Vincent M, Karolak JA, Deutsch G, Gambin T, Popek E, Isidor B, Szafranski P, Le Caignec C, Stankiewicz P
Am J Respir Crit Care Med 2019 Nov 1;200(9):1093-1101. doi: 10.1164/rccm.201903-0495TR. PMID: 31189067Free PMC Article
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P
Am J Hum Genet 2019 Feb 7;104(2):213-228. Epub 2019 Jan 10 doi: 10.1016/j.ajhg.2018.12.010. PMID: 30639323Free PMC Article
Dishop MK
Paediatr Respir Rev 2011 Dec;12(4):230-7. Epub 2011 Mar 5 doi: 10.1016/j.prrv.2011.01.002. PMID: 22018036

Prognosis

Bertolizio G, Engelhardt T, Veyckemans F
Paediatr Anaesth 2022 Feb;32(2):138-147. Epub 2021 Nov 11 doi: 10.1111/pan.14325. PMID: 34738691
Bush A, Gilbert C, Gregory J, Nicholson AG, Semple T, Pabary R
Early Hum Dev 2020 Nov;150:105186. Epub 2020 Sep 15 doi: 10.1016/j.earlhumdev.2020.105186. PMID: 32958330
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P
Am J Hum Genet 2019 Feb 7;104(2):213-228. Epub 2019 Jan 10 doi: 10.1016/j.ajhg.2018.12.010. PMID: 30639323Free PMC Article
Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B
Am J Med Genet A 2012 May;158A(5):1102-10. Epub 2012 Apr 11 doi: 10.1002/ajmg.a.35296. PMID: 22495892Free PMC Article
Dishop MK
Paediatr Respir Rev 2011 Dec;12(4):230-7. Epub 2011 Mar 5 doi: 10.1016/j.prrv.2011.01.002. PMID: 22018036

Clinical prediction guides

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P
Am J Hum Genet 2019 Feb 7;104(2):213-228. Epub 2019 Jan 10 doi: 10.1016/j.ajhg.2018.12.010. PMID: 30639323Free PMC Article
Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B
Am J Med Genet A 2012 May;158A(5):1102-10. Epub 2012 Apr 11 doi: 10.1002/ajmg.a.35296. PMID: 22495892Free PMC Article

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