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Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress

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Abstract

A boy without symptoms up to 12 months of age started with persisting cough followed by respiratory failure at 18 months of age, resulting in mechanical ventilation because of alveolar proteinosis. Lung biopsy showed PAS-positive material. PCR was negative for CMV, Pneumocystis jiroveci and adenovirus. BALF showed mature SP-B. Analysis of the ATP-binding cassette transporter A3 (ABCA3; OMIM 601615) gene showed a compound heterozygous mutation from paternal W1148X and maternal T1114A. Alveolar lavage with 720 mg of bovine surfactant allowed weaning from ventilator support. Heterozygous mutation in the ABCA3 gene could be associated with a milder evolution as compared to the homozygous frequently lethal evolution.

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Fig. 1

Abbreviations

BALF:

bronchoalveolar lavage fluid

References

  1. Brasch F, Schimanski S, Muhlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G (2006) Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 174:571–580

    Article  PubMed  CAS  Google Scholar 

  2. Matsumura Y, Ban N, Ueda K, Inagaki N (2006) Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem 281:34503–34514

    Article  PubMed  CAS  Google Scholar 

  3. Nagata K, Yamamoto A, Ban N, Tanaka AR, Matsuo M, Kioka N, Inagaki N, Ueda K (2004) Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. Biochem Biophys Res Commun 324:262–268

    Article  PubMed  CAS  Google Scholar 

  4. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M (2003) ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 350:1296–1303

    Article  Google Scholar 

  5. Takahashi T, Munakata M, Suzuki I, Kawakami (1998) Serum and bronchoalveolar fluid KL-6 levels in patients with pulmonary alveolar proteinosis. Am J Respir Crit Care Med 158:1294–1298

    PubMed  CAS  Google Scholar 

  6. Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N (2001) ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 508:221–225

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

This work was supported by Scientific Research Grants and a Grant-in-Aid for Creative Scientific Research (15GS0301) from the Ministry of Education, Culture, Sports, Science and Technology of Japan; and CREST (Core Research for Evolutional Science and Technology) of Japan Science and Technology Agency. We thank Dr. Hikaru Nakata (Niigata University) for analysis of GM-CSF and anti-GM-CSF autoantibody and Dr. Hitomi Sano (Sapporo Medical University School of Medicine) for analysis of SP-B.

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Authors and Affiliations

  1. Department of Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka, 430-8558, Japan

    Takuya Yokota & Tadashi Matsubayashi

  2. Department of Physiology, Akita University School of Medicine, Akita, 010-8543, Japan

    Yoshihiro Matsumura, Nobuhiro Ban & Nobuya Inagaki

  3. Department of Diabetes and Clinical Nutrition, Graduate School of Medicine, Kyoto University, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan

    Nobuhiro Ban & Nobuya Inagaki

Authors
  1. Takuya Yokota
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  2. Yoshihiro Matsumura
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  3. Nobuhiro Ban
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  4. Tadashi Matsubayashi
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  5. Nobuya Inagaki
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Corresponding author

Correspondence to Nobuya Inagaki.

Additional information

Takuya Yokota and Yoshihiro Matsumura contributed equally to this work.

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Yokota, T., Matsumura, Y., Ban, N. et al. Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress. Eur J Pediatr 167, 691–693 (2008). https://doi.org/10.1007/s00431-007-0542-8

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  • DOI: https://doi.org/10.1007/s00431-007-0542-8

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