Congenital surfactant deficiency due to ABCA3 mutations leading to fatal respiratory failure in a newborn
Authors:
M. Navratilova 1; H. Hornychová 2; Z. Kokštein 1; J. Malý 1
Authors place of work:
Dětská klinika FN a LF UK, Hradec Královépřednosta prof. MUDr. M. Bayer, CSc.
1; Fingerlandův ústav patologie FN a LF UK, Hradec Královépřednosta prof. MUDr. A. Ryška, Ph. D.
2
Published in the journal:
Čes-slov Pediat 2013; 68 (3): 161-166.
Category:
Case Report
Summary
Inherited disorders of surfactant metabolism present as acute severe respiratory failure in the neonatal period or as chronic respiratory insufficiency in later infancy and childhood. We report the first case of genetically proved surfactant deficiency in term newborn in the Czech Republic leading to lethal respiratory failure. This is also the first proof of these mutations at all. The two heterozygous mutations in ABCA3 gene – in exon 24 M 1227R and in exon 29 Ins1510fs/ter1519 have never been published yet.
Key words:
newborn, surfactant deficiency, ABCA3 mutations
Zdroje
1. Hamvas A. Evaluation and management of inherited disorders of surfactant metabolism. Chin Med J (Peking) 2010; 123 (20): 2943–2947.
2. Bullard JE, Wert SE, Whitsett JA, et al. ABCA3 mutations associated with pediatric interstitial lung disease. Amer J Respir Crit Care Med 2005; 172: 1026–1031.
3. Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol 2009; 12 (4): 253–274.
4. Matsumura Y, Ban N, Ueda K, Inagaki N. Characteriza-tion and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem 2006; 281: 34503–34514.
5. Shulenin S, Nogee LM, Annilo T, et al. ABCA3 gene mutations in newborns with fatal surfactant deficiency. New Engl J Med 2004; 350: 1296–1303.
6. Hamvas A. Inherited surfactant protein–B deficiency and surfactant protein-C associated disease: Clinical features and evaluation. Sem Perinatol 2006; 30: 316–326.
7. Jones KD, Dishop MK, Colby TV. Developmental and Pediatric Lung Disease in Practical Pulmonary Patho-logy. 2nd ed. Leslie KO, Wick MR (eds). Philadelphia: Saunders, 2011: 91–116.
8. Ciantelli M, Ghirri P, Presi S, et al. Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report. J Perinatol 2011; 31: 70–72.
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2013 Číslo 3
- What Effect Can Be Expected from Limosilactobacillus reuteri in Mucositis and Peri-Implantitis?
- The Importance of Limosilactobacillus reuteri in Administration to Diabetics with Gingivitis
Najčítanejšie v tomto čísle
- Hirschsprung´s disease and its genetic cause
- Nutritional screening upon admission to hospital – NutriAction
- Congenital surfactant deficiency due to ABCA3 mutations leading to fatal respiratory failure in a newborn
-
Incidence of idiopathic enteric inflammations in children and adolescents in the Plzeň (Pilsen) Region in 2001–2011.
A Prospective study