ABSTRACT
OBJECTIVES: Determining 24-hour urinary copper excretion (UCE) levels is useful for diagnosing Wilson's disease (WD) and for treatment monitoring. Exchangeable copper (ExC) is a novel potential marker, but its long-term changes have never been described in patients under chelation therapy. Our aim was to describe the long-term changes in ExC levels compared to UCE levels in symptomatic WD pediatric patients under chelation therapy. METHODS: A retrospective, descriptive, and analytical study including all patients under 18 years of age, diagnosed between 2006 and 2020, and treated with chelation therapy was conducted at the National Reference Center for WD in Lyon. Ceruloplasmin levels, serum copper, 24 h-UCE, ExC, and liver enzymes at diagnosis and during follow-up were analyzed. RESULTS: Our study included 36 patients, predominantly with hepatic form of WD (n = 31). The median [interquartile range (IQR)] age at diagnosis was 10.5 (8.4-13.1) years, and the median (IQR) follow-up duration was 6.3 (3.3-8.8) years. At diagnosis, the median (IQR) ExC value was 1.01 (0.60-1.52) µmol/L. There was a significant decrease during the first year of chelation treatment ( P = 0.0008), then a stabilization. The median (IQR) ExC values was 0.38 (0.22-0.63) µmol/L at 12-18 months and 0.43 (0.31-0.54) µmol/L at 5 years of chelation treatment ( P = 0.4057). Similarly, there was a significant decrease in 24-hour UCE ( P < 0.001) during the first year of chelation treatment, then a stabilization. CONCLUSIONS: Our study showed a significant decrease in ExC and 24-hour UCE levels during the first year of follow-up; The dynamics of both biomarkers were similar along the follow-up, demonstrating their usefulness in clinical practice for monitoring WD.
Subject(s)
Hepatolenticular Degeneration , Adolescent , Biomarkers , Ceruloplasmin/metabolism , Chelating Agents/therapeutic use , Chelation Therapy , Child , Copper/metabolism , Hepatolenticular Degeneration/diagnosis , Hepatolenticular Degeneration/drug therapy , Humans , Retrospective StudiesABSTRACT
The Prune-Belly syndrome (PBS) is a rare pathology predominating in male infants, classically manifesting with the triad including aplasia of the abdominal wall muscles, dilatation of the urinary tract, and testicular abnormalities. We report and discuss the case of a full-term male newborn, in whom clinical examination at birth revealed abdominal wall muscle hypoplasia, cryptorchidism, urinary tract dilatation and renal failure. The diagnosis was made based on physical assessment, abdominal ultra-sonographic imaging, and blood sampling of urea and creatinine. For such cases, the recommended surgical management usually consists in a sequential surgical intervention including urinary tract reconstruction, abdominoplasty, and orchidopexy. However, these could not be practiced in due time in our patient, who died on the seventh day of life because of kidney failure. The prognosis of infants with Prune-Belly syndrome may be improved by quality antenatal follow-up, to enable the early diagnosis and preparation for prompt surgical intervention.
Subject(s)
Abdominal Muscles/pathology , Cryptorchidism/etiology , Prune Belly Syndrome/diagnosis , Renal Insufficiency/etiology , Abdominal Muscles/diagnostic imaging , Cameroon , Fatal Outcome , Humans , Infant, Newborn , Male , Prune Belly Syndrome/physiopathology , UltrasonographyABSTRACT
Introduction. Dans un contexte où les taux de couverture vaccinale sont faibles, les hospitalisations sont une occasion pour s'assurer de la vaccination des enfants. L'étude avait pour but de préciser les déterminants et raisons de non vaccination complète des enfants hospitalisés dans deux hôpitaux à Yaoundé. Méthodologie. Notre étude transversale a porté sur les enfants admis dans deux hôpitaux de référence de Yaoundé. Les connaissances des mères sur la vaccination ont été analysées, de même que le motif d'hospitalisation. La recherche des contacts antérieurs des enfants avec les formations sanitaires (FOSA) permettait d'explorer d'éventuelles occasions manquées de vaccination. Les facteurs associés et les raisons de la vaccination incomplète étaient également décrits. Résultats. Nous avons colligé les informations sur 205 sujets parmi lesquels 75,1% âgés de moins de 3 ans. Les principaux motifs d'hospitalisation étaient le paludisme (49,3%) et la pneumonie (14,1%). La plupart des parents connaissaient la vaccination (86,3%) ainsi que son rôle (92,1%) avec pour principale source d'information le personnel de santé (68,4%). La complétude vaccinale globale était de 40%, soit 65,9% et 50,3% pour les vaccins de routine (PEV) et hors PEV respectivement. Cette complétude n'était pas retrouvée chez 60% des patients bien que 90% aient fréquenté une FOSA. Les occasions manquées de vaccination s'élevaient à 65,7% et 61,8% pour le PEV et les vaccins hors PEV respectivement. Les raisons de non vaccination étaient dominées par l'ignorance (65,9%) et les ruptures en stock de vaccin (21,1%). Cependant, le niveau d'étude secondaire (p=0,020), la présence d'une pneumonie (p=0,020) et le fait d'être premier enfant influençaient négativement la vaccination (p=0,008). Conclusion. La complétude vaccinale était insuffisante malgré de bonnes connaissances des parents sur l'importance de la vaccination. Il est important d'agir sur les occasions manquées, surtout chez les ainés et les enfants des mères d'un faible niveau d'étude
