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Archives de Pédiatrie 12/2011; 18(12):1257-60. · 0.30 Impact Factor
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ABSTRACT: In the past few years, survival has increased for people with cystic fibrosis (CF). Diabetes is an important complication of CF caused by pancreatic insufficiency, which reduces insulin secretion. Because of increased longevity of patients with CF, the prevalence of CF-related diabetes (CFRD) has increased. CFRD is associated with increased mortality and morbidity. Several studies have reported a decline in nutritional and pulmonary status 2-4 years before the diagnosis of CFRD. The introduction of insulin treatment can produce clinical improvement in weight and lung function. The oral glucose tolerance test is currently the reference method in screening for CFRD, but the current definition of diabetes based on the 2-h post-load plasma glucose level may not be the most accurate method for early detection of glucose tolerance abnormalities in CF. The continuous glucose monitoring system (CGMS) has been described as a useful tool for early detection of hyperglycemia in the CF patient. We tested the CGMS in CF patients with unexplained alteration of their general status. The aim of this study was to assess the value of the CGMS in this population.
An annual OGTT (following World Health Organization recommendations) was conducted as a screening test to identify CFRD in patients aged over 10 years or patients aged under 10 years with a poorer clinical status. The CGMS was performed in patients with unexplained worsened clinical status and without diabetes in OGTT.
Forty-two patients aged from 8.5 to 19 years were screened using OGTT for CFRD. According to ADA criteria, 23 patients (54.8%) displayed normal glucose tolerance, 14 (33.3%) impaired glucose tolerance, and 5 diabetes (11.9%). Out of 37 nondiabetic, the CGMS was used in 20 patients with unexplained altered general status. The CGMS revealed peaks of glucose values greater than 2 g/L in 16 patients, 9 patients with normal glucose tolerance, and 7 patients with impaired glucose tolerance. The mean CGMS glucose and time of glycemic monitoring above 1.4 g/L increased in patients with peaks greater than 2 g/L compared to patients without peaks (p=0.0016 and p=0.0069 respectively). After analysis of the CGMS, the prevalence of diabetes increased from 11.9 to 50%. Three patients aged less than 10 years with a normal OGTT profile presented glycemic peaks greater than 2 g/L during CGMS.
CGMS revealed more glucose metabolism abnormalities than OGTT in patients with unexplained altered general status.
Archives de Pédiatrie 10/2009; 16(12):1540-6. · 0.30 Impact Factor
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ABSTRACT: Recent studies using 16S rRNA gene amplification followed by clonal Sanger sequencing in cystic fibrosis demonstrated that cultured microorganisms are only part of the infecting flora. The purpose of this paper was to compare pyrosequencing and clonal Sanger sequencing on sputum. The sputum of a patient with cystic fibrosis was analysed by culture, Sanger clone sequencing and pyrosequencing after 16S rRNA gene amplification. A total of 4,499 sequencing reads were obtained, which could be attributed to six consensus sequences, but the length of reads leads to fastidious data analysis. Compared to clonal Sanger sequencing and to cultivation results, pyrosequencing recovers greater species richness and gives a more reliable estimate of the relative abundance of bacterial species. The 16S pyrosequencing approach expands our knowledge of the microbial diversity of cystic fibrosis sputum. The current lack of phylogenetic resolution at the species level for the GS 20 sequencing reads will be overcome with the next generation of pyrosequencing apparatus.
European Journal of Clinical Microbiology 06/2009; 28(9):1151-4. · 2.86 Impact Factor
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ABSTRACT: Hyper-IgD and periodic fever syndrome (HIDS) is a hereditary autoinflammatory syndrome, characterized by recurrent inflammatory attacks. Treatment of HIDS is difficult. Recently, the IL-1ra analogue anakinra was reported to be successful in aborting the IgD inflammatory attacks in a vaccination model. We report a clinical case of spectacular reduction of febrile attacks in a severe HIDS patient.
Journal of Inherited Metabolic Disease 01/2007; 29(6):763. · 3.58 Impact Factor
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Pathologie Biologie 06/2006; 54(5):263-5. · 1.53 Impact Factor
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ABSTRACT: Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome, also called hypersensitivity reaction, is a severe idiosyncratic reaction to drugs, especially to anti-epileptic drugs. Clinical features associate cutaneous eruption, fever, multiple peripheral ganglions, and potentially life-threatening damage of one or more organs. DRESS syndrome is well described in adults treated with aromatic anti-epileptic drugs, such as phenytoin, phenobarbital, and carbamazepine, but also with other drugs. The new anti-epileptic drugs, such as oxcarbazepine also induce various cutaneous eruptions, but with less report of DRESS syndrome. In children, DRESS syndrome is rare and probably underdiagnosed. We report on the case of a 11-year-old girl hospitalised with an acute severe hepatitis revealing an oxcarbazepine-induced DRESS syndrome.
Archives de Pédiatrie 10/2004; 11(9):1073-7. · 0.30 Impact Factor
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ABSTRACT: The increasing evidence of the benefits of neonatal screening for cystic fibrosis (CF) indicates that this procedure could soon be implemented throughout France. The screening strategy currently used involves the detection of infants with elevated levels of immunoreactive trypsinogen (IRT) (approximately 1% of the population), followed by the detection of CFTR gene mutations. However, genetic analysis has certain drawbacks, the most important of which being the management of heterozygotes, and in France the requirement by law of previous informed consent. In cases of CF, pancreatic alterations are already present in utero. A previous study has demonstrated the value of pancreatitis-associated protein (PAP) as a screening test for CF, and has indicated that a feasible two-stage strategy could involve the following: 1) selection of infants with elevated PAP levels; 2) in this group of infants, subsequent detection of those with elevated IRT levels for direct CF diagnosis by the sweat test thereby avoiding the use of genetic analysis. The study aim was to evaluate this strategy in a large number of neonates.
The aforementioned strategy was evaluated in a prospective study involving 47,213 infants in the Provence region of France. In infants with a PAP > 7.5 ng/mL (1.28%), 176 had an elevated IRT level > 700 ng/mL (0.37%). In this limited population sample (0.37% of the total), the sweat test diagnosed five cases of CF. A sixth case involving the monozygous twin of an infant with diagnosed CF remained undetected, probably because of a registration error. Genetic analysis confirmed the diagnosis, and also detected another case in an infant with two CFTR mutations but with a normal phenotype at 20 months of age. As the observed incidence was similar to that which had previously been reported, and as no further case was subsequently detected two years after the end of the study, this indicated that the sensitivity of this screening strategy was satisfactory. Its specificity makes the direct diagnosis of CF cases by the sweat test feasible, without further selection by genetic analysis.
The PAP/IRT technique for CF detection seems to be suitable for mass screening, without the drawbacks of genetic testing.
Archives de Pédiatrie 04/2001; 8(3):275-81. · 0.30 Impact Factor
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La Revue du praticien 11/2000; 50(15):1728-31.
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ABSTRACT: We report two girls with histories of recessive polycystic kidney disease. Both were on maintenance hemodialysis. They had undergone surgical distal portocaval shunt because of portal hypertension. Later, bilateral nephrectomy was performed, and they presented with hepatic encephalopathy (HE) and evolution towards irreversible hepatic coma and death. Portosystemic shunt is the treatment of choice of portal hypertension. The kidney plays a pivotal role in ammonia disposal during portosystemic shunt. Thus, we stress the risk of HE after portosystemic shunt followed by bilateral nephrectomy in patients with end-stage renal failure and suggest that combined liver-kidney transplantation should be considered.
Pediatric Nephrology 09/2000; 14(8-9):856-8. · 2.52 Impact Factor
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ABSTRACT: Lung or heart-lung transplantation is a useful therapy in life-threatening pulmonary disorders during childhood. Cyclosporine A is a major immunosuppressive treatment but has a number of adverse effects including nephrotoxicity. There have been no reports on the long-term evolution of renal function in a large series of paediatric pulmonary transplantation recipients.
We examined 19 patients followed up for at least 3 years after pulmonary transplantation. The mean time of follow-up was 5.36 years. Kidney function was evaluated by calculation of glomerular filtration rate (GFR) according the Schwartz formula.
The GFR was normal before transplantation in all patients. The short-term evolution of GFR was marked by a significant drop during the first and until the 6th month. Then, regardless of the level reached at the end of the 6th month, the GFR remained stable in all patients except one until the end of follow-up. At the end of follow-up, 31% had normal GFR, 57% had mild chronic renal failure, and 5% had advanced renal failure. Hypertension was frequent and associated with renal failure.
Paediatric pulmonary recipients showed evidence of long-term cyclosporine A-associated nephrotoxicity. Most of this toxicity occurred during the first 6 months.
Transplantation 06/2000; 69(10):2055-9. · 4.00 Impact Factor
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ABSTRACT: A 3-yr-old boy received valproic acid (VPA) for recurrent seizures. He developed coma and acute liver failure that were attributed to VPA toxicity, and underwent emergency orthotopic liver transplantation (OLTx). Despite good graft function, his neurological state worsened and led to death a few months later. The diagnosis of Alpers-Huttenlocher Syndrome (AHS) was suspected, subsequently to liver Tx, in view of ongoing neurologic deterioration and magnetic resonance imaging (MRI) findings. The syndrome, recessively inherited, associates brain degeneration with liver failure, and is now considered a mitochondrial disease. Enzyme activity deficiencies of the respiratory chain were identified in muscle mitochondria, as well as morphologic abnormalities of mitochondria in the explanted liver. Guidelines for diagnosis are presented, in order to differentiate the liver failure in AHS from that induced by genuine VPA toxicity. It is recommended to avoid liver Tx in patients with AHS given the fatal neurological course of the disease.
Pediatric Transplantation 03/2000; 4(1):67-71. · 1.48 Impact Factor
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J Sarles,
S Barthellemy,
C Férec,
J Iovanna,
M Roussey,
J P Farriaux,
A Toutain,
J Berthelot,
N Maurin,
J P Codet,
P Berthézène,
J C Dagorn
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ABSTRACT: To determine whether pancreatitis associated protein (PAP) is a marker for cystic fibrosis which could be used in neonatal screening for the disease.
PAP was assayed on screening cards from 202,807 neonates. Babies with PAP > or = 15 ng/ml, or > or = 11.5 ng/ml and immunoreactive trypsinogen (IRT) > or = 700 ng/ml were recalled for clinical examination, sweat testing, and cystic fibrosis transmembrane regulator (CFTR) gene analysis.
Median PAP value was 2.8 ng/ml. Forty four cases of cystic fibrosis were recorded. Recalled neonates (n = 398) included only 11 carriers. A receiver operating characteristic curve analysis showed that PAP above 8.0 ng/ml would select 0.76% of babies, including all those with cystic fibrosis, except for one with meconium ileus and two with mild CFTR mutations. Screening 27,146 babies with both PAP and IRT showed that only 0.12% had PAP > 8.0 ng/ml and IRT > 700 ng/ml, including all cases of cystic fibrosis.
PAP is increased in most neonates with cystic fibrosis and could be used for CF screening. Its combination with IRT looks promising.
Archives of Disease in Childhood - Fetal and Neonatal Edition 03/1999; 80(2):F118-22. · 3.05 Impact Factor
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La Revue du praticien 02/1999; 49(2):223-6.
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ABSTRACT: hCG secreting tumors are responsible for 21% of precocious puberties in boys. Usual localizations are hepatic, cerebral, mediastinal and gonadic.
A 4-year-old boy developed precocious puberty with rapid evolution. Serum beta hCG suggested germinal etiology, but radiological procedures failed to find any usual localization. Further occurrence of pain in the legs led to carry out a lumbar puncture. The high cerebrospinal fluid/blood gradient of beta hCG suggested the presence of an intramedullar tumor. Medullar magnetic resonance imaging found a large tumor facing L1 and L2.
To our knowledge, this localization is described for only the second time.
Archives de Pédiatrie 02/1999; 6(1):46-9. · 0.30 Impact Factor
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American Journal of Medical Genetics 06/1998; 77(4):337.
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Nephrology Dialysis Transplantation 02/1998; 13(2):522. · 3.40 Impact Factor
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ABSTRACT: Alagille syndrome (AS) is characterized by the association of at least three of the following five abnormalities: chronic cholestasis, peripheral pulmonary artery stenosis, vertebral arch defects, embryotoxon, and typical facies. In addition to urological abnormalities, tubulointerstitial nephritis, renal tubular acidosis, and mesangiolipidosis have been noted in AS. The usual manifestations of such renal pathologies rarely include hypertension. We report five patients with at least four of the five major features of AS who developed secondary hypertension of renovascular origin 3.5-28 years after the initial diagnosis of AS. Angiography demonstrated uni- or bilateral renal artery stenosis and various other abnormalities of the main arteries in all five patients: aorta (3 cases), celiac artery (4 cases), superior mesenteric artery (1 case), subclavian artery (1 case). Our findings underscore the value of arterial blood pressure monitoring in patients with AS. If hypertension occurs, a renovascular origin should be sought. The diffuse vascular abnormalities which appeared to be a feature of AS in these patients should prompt larger studies of vascular abnormalities in AS.
Pediatric Nephrology 02/1998; 12(2):121-4. · 2.52 Impact Factor
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M Tsimaratos,
E Bérard,
S Sigaudy,
T Almahana,
A Delarue,
B Roquelaure,
C Costet,
C Antignac,
M C Gubler,
G Picon,
N Philip, J Sarles
Pediatric Nephrology 01/1998; 11(6):785-6. · 2.52 Impact Factor
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Archives de Pédiatrie 12/1997; 4(12):1261-2. · 0.30 Impact Factor
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Archives de Pédiatrie 03/1997; 4(2):195-6. · 0.30 Impact Factor
