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Klin Padiatr 2013; 225(06): 339-342
DOI: 10.1055/s-0033-1354415
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

X-linked Agammaglobulinemia in Community-acquired Pneumonia Cases Revealed by Immunoglobulin Level Screening at Hospital Admission

X-gekoppelte Agammaglobulinämie in Patienten mit ambulant erworbener Pneumonie, entdeckt durch Immunglobulinbestimmung bei der Krankenhausaufnahme
Z. Vancikova
1   Department of Pediatrics, 1st Medical Faculty and Thomayer’s University Hospital, Charles University in Prague, Czech Republic
,
T. Freiberger
2   Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, and Department of Clinical Immunology and Allergology, Masaryk University, Brno, Czech Republic
,
W. Vach
3   Clinical Epidemiology, Institute of Medical Biometry and Medical ­Informatics, University Medical Centre, University of Freiburg, Germany
,
M. Trojanek
4   1st Department of Infectious Diseases, 2nd Medical Faculty, Charles University in Prague, Czech Republic
,
M. Rizzi
5   Centre of Chronic Immunodeficiency (CCI), University Medical Centre, University of Freiburg, Germany
,
A. Janda
5   Centre of Chronic Immunodeficiency (CCI), University Medical Centre, University of Freiburg, Germany
› Author Affiliations
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Publication History

Publication Date:
24 October 2013 (online)

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Abstract

In children with primary immunodeficiencies, the onset of symptoms precedes the diagnosis and the initiation of appropriate treatment by months or years. This delay in diagnosis is due to the fact that while these disorders are rare, some of the infections seen in immunodeficient patients are common. Defective antibody production represents the largest group among these disorders, with otitis, sinusitis and pneumonia as the most frequent initial manifestation. We performed a prospective study of humoral immunity in children hospitalized due to community-acquired pneumonia in tertiary care hospital. Out of 254 patients (131 boys, 123 girls, median age 4.5 years) recruited over 3 years, we found 2 boys (age 11 and 21 months) lacking serum immunoglobulins and circulating B cells. Subsequent genetic analysis confirmed diagnosis of X-linked agammaglobulinemia. Despite their immunodeficiency, the pneumonia was uncomplicated in both patients and did not call for immunological evaluation. However, the immunoglobulin screening at admission allowed for an early diagnosis of the immunodeficiency and timely initiation of immunoglobulin substitution, the key prerequisite for a favorable course of the disease.

Conclusions:

Simple and inexpensive immuno­globulin measurement during the manage­ment of hospitalized children with community-acquired pneumonia may help in early identification of patients with compromised humoral immunity and prevent serious complications.

Zusammenfassung

Bei Kindern mit primärer Immundefizienz kann die Latenz zwischen klinischer Erstmanifestation und der definitiven Diagnosestellung Monate oder sogar Jahre betragen. Diese Verzögerung in der Diagnosestellung ist u. a. der Tatsache geschuldet, dass angeborene Immundefekte seltene Erkrankungen sind, während einige der Infektionen, zu denen primäre Immundefekte prädisponieren, häufig auftreten. Eine der größten Gruppen innerhalb dieser Erkrankungen stellen Defekte in der Antikörperproduktion dar, die in vielen Fällen als Otitis, Sinusitis und Pneumonie manifest werden. Wir stellen die Ergebnisse einer prospektiven Studie zur humoralen Immunität bei Kindern vor, die mit ambulant erworbener Pneumonie in einem Krankenhaus der maximalen Versorgungsstufe hospitalisiert wurden. Unter 254 Patienten (131 Jungen, 123 Mädchen, Durchschnittsalter 4,5 Jahre), die über einen Zeitraum von 3 Jahren rekrutiert wurden, waren 2 Jungen (11 bzw. 21 Monate alt) mit einem Mangel an Serumimmunglobulinen und erniedrigten B-Lymphozyten. In der genetischen Analyse konnte bei beiden Patienten eine X-­chromosomal-vermittelte Agammaglobulinämie diagnostiziert werden. Die Bestimmung der Immunoglobuline bei stationärer Aufnahme erlaubte frühe Diagnosestellung des Immundefekts und einen zeitnahen Beginn der Immunglobulinsubstitution. Beides sind wesentliche Voraussetzung für einen günstigen Krankheitsverlauf.

Schlussfolgerung:

Die einfache und kosten­günstige Bestimmung von Serumimmunglo­bulinen während der stationären Behandlung von Kindern mit ambulant erworbenen Pneumonien kann dabei helfen, Patienten mit Defekten der humoralen Immunität frühzeitig zu identifizieren, und schwere Komplikationen verhindern.

Key words:

X-linked agamma­globulinemia - immunodeficiency - humoral immunity - community-acquired ­pneumonia - childhood

Schlüsselwörter

X-gekoppelte Agamma­globulinämie - Immundefizienz - humorale Immunität - ambulant erworbene ­Pneumonie - Kindesalter
 

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