A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report

被引：4
作者：
Al-Haidary A.S. [1 ]
Alotaibi W. [1 ]
Alhaider S.A. [2 ]
Al-Saleh S. [3 ]
机构：
[1] Department of Pediatrics, King Fahad Medical City, P.O. Box 59046, Riyadh
[2] Department of Pediatrics, King Faisal Specialist Hospital, Research Centre, Riyadh
[3] Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, ON
来源：
Journal of Medical Case Reports | / 11卷 / 1期
关键词：
case report; CSF2RA; Diffuse lung disease; Pediatrics; Pulmonary alveolar proteinosis; Whole lung lavage;
D O I：
10.1186/s13256-017-1285-4
中图分类号：
学科分类号：
摘要：
Background: The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene. Case presentation: A 5-year-old Saudi boy presented with a history of progressive dyspnea over 6 months; he was diagnosed as having pulmonary alveolar proteinosis. A molecular study revealed a novel variation in colony stimulating factor 2 receptor alpha gene. His clinical condition showed significant improvement after whole lung lavage. Conclusions: This case has the typical presentation of congenital pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha defect with a novel variant in this gene likely to be pathogenic. © 2017 The Author(s).
引用
收藏
相关论文
共 18 条
  • [1] Trapnell B.C., Whitsett J.A., Nakata K., Pulmonary alveolar proteinosis, N Engl J Med, 349, 26, pp. 2527-2539, (2003)
  • [2] De Blic J., Pulmonary alveolar proteinosis in children, Paediatr Respir Rev, 5, 4, pp. 316-322, (2004)
  • [3] Borie R., Danel C., Debray M.P., Taille C., Dombret M.C., Aubier M., Epaud R., Crestani B., Pulmonary alveolar proteinosis, Eur Respir Rev, 20, 120, pp. 98-107, (2011)
  • [4] Campo I., Kadija Z., Mariani F., Paracchini E., Rodi G., Mojoli F., Braschi A., Luisetti M., Pulmonary alveolar proteinosis: diagnostic and therapeutic challenges, Multidiscip Respir Med, 7, 1, (2012)
  • [5] Hildebrandt J., Yalcin E., Bresser H.G., Cinel G., Gappa M., Haghighi A., Kiper N., Khalilzadeh S., Reiter K., Sayer J., Schwerk N., Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis, Orphanet J Rare Dis, 9, 1, (2014)
  • [6] Martinez-Moczygemba M., Doan M.L., Elidemir O., Fan L.L., Cheung S.W., Lei J.T., Moore J.P., Tavana G., Lewis L.R., Zhu Y., Muzny D.M., Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1, J Exp Med, 205, 12, pp. 2711-2716, (2008)
  • [7] Suzuki T., Sakagami T., Rubin B.K., Nogee L.M., Wood R.E., Zimmerman S.L., Smolarek T., Dishop M.K., Wert S.E., Whitsett J.A., Grabowski G., Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA, J Exp Med, 205, 12, pp. 2703-2710, (2008)
  • [8] Grunebaum E., Cutz E., Roifman C.M., Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency, J Allergy Clin Immunol, 129, 6, pp. 1588-1593, (2012)
  • [9] Suzuki T., Maranda B., Sakagami T., Catellier P., Couture C.Y., Carey B.C., Chalk C., Trapnell B.C., Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations, Eur Respir J, 37, 1, pp. 201-204, (2011)
  • [10] Hamvas A., Deterding R.R., Wert S.E., White F.V., Dishop M.K., Alfano D.N., Halbower A.C., Planer B., Stephan M.J., Uchida D.A., Williames L.D., Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1, Chest J, 144, 3, pp. 794-804, (2013)
12