[Noninfectious febrile inflammatory syndromes in children: diagnosis and usefulness of diagnostic procedures]. / Syndromes inflammatoires fébriles non infectieux de l'enfant: diagnostic, contribution des examens complémentaires.

OBJECTIVE: To determine the causes and to quantify the benefits obtained from further diagnostic investigations in children presenting with a non infectious inflammatory fever. METHODS: The records of 62 children aged from two-months to 15 years (median: four years) admitted to a paediatric department between 1990 and 2000 for the evaluation of a fever associated to an inflammatory syndrome, defined as temperature over 38 degrees C with an increase of the erythrocyte sedimentation rate (ESR) more than 20 mm/h and/or a serum C-reactive protein level (CRP) > 20 mg/L, and excluding overt infectious diseases, were retrospectively reviewed. RESULTS: Of these patients, 79% children (49 cases) had inflammatory systemic disease, 3.2% (two cases) had malignancy, and 17.8% (11 cases) had undiagnosed disorders. The most frequent disease was Kawasaki disease (22 children), especially in young children. Increase of ESR above 100 mm/h and of CRP above 100 mg/L was present in 59% of Kawasaki disease, 71% of idiopathic juvenile arthritis, 100% of malignancies and 7% of unknown diagnoses. Increase of ESR below 50 mm/h and of CRP below 50 mg/L was present in 75% of hemophagocytic syndromes and 46% of unknown diagnosis. The polymorphonuclear count, hepatic function evaluation, triglycerides levels, abdominal ultrasound, abdominal computed tomography, echocardiography, biopsies were useful diagnosis tools. Technetium scintigraphy was helpful only when abnormalities were found on physical examination. CONCLUSION: The diagnosis of Kawasaki disease must be quickly suspected in febrile young children with inflammatory syndrome without infection. ESR and CRP values, abdominal ultrasound and echocardiography are helpful tools for the diagnostic procedure.

[Living donors for transplantation and bioethics laws. Survey with French transplantation professionals]. / La transplantation avec donneur vivant et les lois de bioéthique. Enquête auprès des professionnels français de la transplantation.

OBJECTIVES: Renewed interest in living donor transplantation in France led us to survey French transplanters to determine their opinion concerning this technique and the ethical issues involved. Their concerns and suggestions about current legislation were examined. METHODS: An anonymous questionnaire was sent to physicians working in the different kidney, liver and lung transplantation units operating in France. RESULTS: French transplanters expressed a wide range of opinions concerning living donor transplantation and possible broadening of the current regulations. Sixty-two percent of the transplanters had a positive opinion on living donor transplantation compared with 22% who expressed a negative opinion. For 23% of the transplanters, it is preferable to transplant with a living donor graft compared with 64% who preferred cadaveric grafts. A living donor transplantation program is under study in 65% of the units. There is some debate concerning the legitimate nature of the emergency donation situation for spouses. About one-half of the transplanters were in favor of controlled extension of potential donors to second degree relatives and to the recipient's spouse or living partner. CONCLUSION: There is no real consensus among French transplanters concerning living donor transplantation due to the complexity of the ethical issues involved. Their opinions reflect medical tradition with background marked by autonomy and paternalism. This leads to a wide range of opinions concerning current bioethics legislation and the usefulness of more flexible laws.

[Severe autoimmune immunoglobulin A hemolytic anemia in a 10-month-old infant]. / Anémie hémolytique auto-immune sévère à immunoglobulines A chez un nourrisson de dix mois.

CASE REPORT: A ten-month-old boy presented with a severe auto-immune hemolytic anemia. Direct antiglobin test was positive only for IgA class autoantibodies. He recovered with a high dose corticosteroid treatment. CONCLUSION: IgA class autoantibodies should be searched for in the case of a high suspicion of auto-immune hemolytic anemia with negative direct antiglobin test for IgG and complement. Corticosteroid treatment is most often successful.

Evaluation, selection, and follow-up of live kidney donors: a review of current practice in French renal transplant centres.

BACKGROUND: A resurgence of interest in the concept of live-donor renal transplantation has prompted a closer look at methods of live donor evaluation, selection, and follow-up. The aim of this study was to describe these methods in all 46 French renal transplant centres. METHODS: Questionnaires were sent to all chief renal physicians. RESULTS: The survey was completed by 78% of centres, which accounted for 95% of all live-donor renal transplants carried out in France in 1995 and 1996. There was a substantial variation in all three steps of live-donor management. For example, we observed variations in the screening for specific short- or long-term risk factors (especially cardiovascular or thrombotic risk factors and diabetes). In addition the exclusion criteria differed, especially the cut-off age for donation, which ranged from 45 to 75 years. The composition of teams evaluating and selecting potential donors and the role of the potential donors in the decision-making process varied greatly among centres. Finally, we observed less variation in the methods of donor follow-up. CONCLUSIONS: The current survey revealed a marked disparity in the management of live donors in France. It raises the question of whether these practices should be codified into a set of guidelines for live-donor transplantation.

The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis.

Chronic liver disease is a major complication of cystic fibrosis. Its incidence and severity show marked heterogeneity, even among the homogeneous group of homozygous DeltaF508 patients, suggesting that environmental or genetic factors other than the deletion DeltaF508 may influence the development of cystic fibrosis related liver disease. We investigated whether the allelic variants of mannose binding lectin, an important protein of the immune system, could be associated with the presence of cirrhosis in a population of 216 homogeneous homozygous DeltaF508 patients. Analysis of the data shows that the presence of cirrhosis in cystic fibrosis patients is significantly associated with a mutated mannose binding lectin genotype (homozygous or compound heterozygous for mannose binding lectin variants). The modulating role of mannose binding lectin in the occurrence of cirrhosis in cystic fibrosis could be explained by the fact that hepatotoxic damage from viruses or bacteria might be increased by the immunodeficiency associated with mannose binding lectin variants and might facilitate the degradation of liver status. These data highlight the crucial role of mannose binding lectin in the clinical outcome of cystic fibrosis, as it has recently been shown that the mannose binding lectin gene is a modulating gene of the respiratory involvement in cystic fibrosis patients.

Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis.

The three major allelic variants of the mannose-binding lectin gene are responsible for structural defects leading to immune deficiency. The corresponding mutations are all located within exon 1 and result in amino acid substitutions in the collagenous region of the protein, which is involved in the oligomerization process. We have developed a simple and efficient strategy that permits simultaneous genotyping of these known allelic variants of the MBL gene by means of a single polymerase chain reaction (PCR) reaction followed by a denaturing gradient gel electrophoresis (DGGE). In addition, this procedure also allows for screening novel alleles due to mutations located elsewhere in the analyzed segment of the gene. During this study, we identified a previously undescribed nucleotide change in exon 1 at codon 44.