[Fanconi anemia in 2012: diagnosis, pediatric follow-up and treatment]. / L'anémie de Fanconi en 2012 : diagnostic, suivi pédiatrique, traitement.

Fanconi anemia (FA) is a rare genetic disease, transmitted in an autosomal recessive mode. The clinical phenotype is very broad and heterogeneous, related to the wide range of genes involved in this pathology. The classical triad of short height, physical abnormalities, and bone marrow failure is suggestive. The main physical abnormalities found involve the limbs, spinal column, skin, kidneys and urinary tract, and the ORL zone. Recent progress in molecular biology has identified 15 genes whose mutation causes FA chromosomal instability. FA is diagnosed by cytogenetic examination, then specified by molecular analysis. As FA patients may present multiorgan abnormalities and a high risk for neoplasia development, their medical follow-up has to be multidisciplinary and prolonged throughout life. The main challenges of the follow-up are patient information and education. Bone marrow failure, appearing during the first decade, requires close hematological monitoring and for severe cases requires hematopoietic stem cell transplantation, major and specific care with frequent serious complications and high mortality, but this is the only curative treatment in FA. Extrahematological care consists in screening for organ abnormalities and defects as well as monitoring precancerous lesions and tumors.

Sensitivity and specificity of a rapid influenza diagnostic test in children and clinical utility during influenza A (H1N1) 2009 outbreak.

INTRODUCTION: The influenza A (H1N1) 2009 outbreak caused death and a disruption of public health services. Rapid influenza diagnostic tests (RIDT) could be helpful to ease the triage of patients and prevent an overload of emergency and laboratory facilities. OBJECTIVES: To compare the sensitivity and specificity of the Clearview Exact Influenza A&B test and real-time reverse transcription(RT)-PCR to detect influenza A (H1N1) 2009 in a paediatric emergency department of a paediatric teaching hospital in Paris, France. METHODS: 76 children with an influenza-like illness and either severe symptoms or an underlying medical condition were prospectively recruited between July 2009 and October 2009. RIDT and RT-PCR were simultaneously performed and compared. RESULTS: Among 39 influenza A (H1N1) 2009 RT-PCR-positive children (median age 5 years), 23 Clearview Exact Influenza A&B tests were positive. Sensitivity was 59% (95% CI 42.2 to 74) and specificity was 94.6% (95% CI 80.5 to 99.1). CONCLUSIONS: This study shows a sensitivity of RIDT of 59%, in agreement with other prospective studies, which could be useful in clinical practice for diagnosis influenza A (H1N1) 2009 in children. In outbreaks of a high prevalence, such as the 2009 outbreak, this test can help to prevent an overload of public health services.