Original ArticleIsolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases
Section snippets
Methods
Between January 2002 and January 2003, a clinical questionnaire aimed at retrospectively recording cases of ICA in France was sent to all members of 4 French Pediatric Societies: the Pediatric Intensive Care and Emergency Group, the French Pediatric Intensive Care Society, the French Pediatric Infectious Diseases Group, and the Pediatric Immunology and Hematology Society. The Pediatric Cardiology Society was not solicited. Of 443 solicited clinicians, 294 (66%) responded to the survey by
Characteristics of Probands and Affected Relatives
Ten index cases (5 males and 5 females) led to the identification of ICA in a total of 20 patients (12 males and 8 females) from 10 unrelated kindreds (Figure 1). These individuals were born between 1957 and 2006, during which approximately 39.2 million births were recorded in France. Thus the prevalence of ICA can be estimated as at least 0.51 per million births. All probands were diagnosed in childhood, at a median age of 11 months. The screening of members from the 10 families led to the
Discussion
Our report of 20 patients with ICA from 10 kindreds in a national multicenter study in France adds to the previously published 50 case reports and small single-center series among 31 families. The incidence of ICA has been estimated based solely on postmortem series. Kanthan et al27 reviewed 293 pediatric autopsies after sudden unexpected death and identified 4 cases of asplenia, including 3 cases of AS and 1 case of ICA. In our series, the prevalence of ICA can be roughly estimated as at least
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Supported by INSERM, University Paris Descartes, Rockefeller University, Howard Hughes Medical Institute, Dana Foundation, March of Dimes, the EU, and ANR (Agence nationale de la recherche). The authors declare no conflicts of interest.
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Contributed equally to this work.