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Analysis of clinical presentations of Bruton disease: a review of 20 years of accumulated data from pediatric patients at Severance Hospital.

Authors
 Jin-Kyong Chun  ;  Taek Jin Lee  ;  Jae Woo Song  ;  John A Linton  ;  Dong Soo Kim 
Citation
 YONSEI MEDICAL JOURNAL, Vol.49(1) : 28-36, 2008 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2008
MeSH
Adolescent ; Agammaglobulinemia/complications ; Agammaglobulinemia/diagnosis* ; Agammaglobulinemia/drug therapy ; Agammaglobulinemia/genetics ; Child ; Child, Preschool ; Genetic Diseases, X-Linked/enzymology ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/pathology ; Hospitals* ; Humans ; Infant ; Male ; Protein-Tyrosine Kinases/genetics ; Protein-Tyrosine Kinases/metabolism ; Retrospective Studies ; Time Factors
Keywords
Agammaglobulinemiainfection ; Bruton's tyrosine kinaseinfection ; infection
Abstract
PURPOSE: X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene resulting in defective B cell differentiation. Because it is a relatively rare disorder, it is difficult for clinicians to have a comprehensive understanding of XLA due to a lack of exposure to the disease. Clinical presentations of patients with XLA were analyzed and discussed to improve care plans. MATERIALS AND METHODS: During a 20 year period, from January 1987 to June 2006, a total of 19 patients were diagnosed as XLA in the Department of Pediatrics at Severance Hospital, Seoul, Korea. A retrospective analysis of the clinical presentations of those patients was performed. RESULTS: The mean age of the XLA patients included in the study was 4.89 years, with a range of 6 months to 13 years. Twelve patients were diagnosed before age 5, while the other 7 patients were diagnosed after age 5. Recurrent infections observed in the patients included pneumonia, acute otitis media, septic arthritis, skin infection, sepsis, sinusitis, acute gastroenteritis, cervical lymphadenitis, epididymitis, meningitis, osteomyelitis, urinary tract infection and encephalitis. Frequency of admissions was variable from 0 to 12 times, depending on the time at which immunoglobulin therapy was started. Six cases had family histories positive for XLA. BTK gene mutations were found in 8 cases. CONCLUSION: The overall prognosis of XLA is good as long as patients are diagnosed and treated early with regular intra venous gamma globulin therapy before the sequelae of recurrent infections appear.
Files in This Item:
T200800985.pdf Download
DOI
10.3349/ymj.2008.49.1.28
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Family Medicine (가정의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Dong Soo(김동수)
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lee, Taek Jin(이택진)
Linton, John A.(인요한) ORCID logo https://orcid.org/0000-0001-8000-3049
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/107250
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