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La cystinurie est une néphropathie congénitale autosomique récessive d'une prévalence d'environ 1/7000 dans le monde. Elle se manifeste par des crises répétées de lithiase urinaire et constitue de 1 à 2% des lithiases urinaires chez l'adulte et de 6 à 10% chez l'enfant. Sa prise en charge associe une prévention par des traitements hygiéno-diététiques d'hyperhydratation, de diminution des apports en sel et en protéine ainsi que des traitements pharmacologiques d'alcalinisation des urines et de chélation de la cystine. Le traitement urologique permet de traiter les lithiases.Nous avons réalisé une étude rétrospective sur dossier de l'ensemble de la cohorte des patients atteints de cystinurie suivis dans les services de néphrologie et de néphro-pédiatrie des Cliniques universitaires Saint-Luc. Cette cohorte a été caractérisée par différents points dont les principaux sont : l 'activité de la maladie, les traitements médicaux et urologiques reçus, l'âge et les symptômes de diagnostic. Nous avons également classé la cohorte d'après leur fonction rénale et regardé quelle proportion en avait une altération. La quantification de la concentration urinaire en cystine et l'existence d'un lien avec la clinique ont été également recherchés.Les données sont en accord avec la littérature pour l'âge moyen et les symptômes de diagnostic.Comme dans les autres études, une partie non négligeable de la cohorte (41%) a une fonction rénale diminuée (stade II à IV). Les mesures de contrôle de la maladie doivent dans la majorité des cas (91.5%) adjoindre un traitement médicamenteux aux mesures hygiéno-diététiques. Les effets secondaires des traitements chélateurs sont rencontrés moins fréquemment dans notre cohorte (28%). Le recours aux interventions urologique est aussi rencontré chez la plupart de nos patients (96%).Nous avons cependant, à l'inverse de la littérature, observé une corrélation entre la concentration urinaire de cystine et l'indice d'activité de la maladie. Cette corrélation était de 28%.Nos observations confirment le caractère chronique de l'affection lithiasique, la difficulté d'une maitrise parfaite de la maladie ainsi que le risque qu'elle représente pour la fonction rénale. About 1/17000 people worldwide are suffering from cystinuria, an autosomal recessive nephropathy. This disease is characterized by chronic kidney stones and is responsible of 1 to 2% of kidney stones in adults and 6 to 10% in children. The management of this illness is combining both nutrition advices (high fluids, low sait and protein intake), and pharmacologie with urine alcalinization and cystine chelation. If lithiasis occurs then urological therapy is recommended.We have performed a retrospective study on cystinuria's patients (adults and pediatric) treated in the nephrology units at the Cliniques Universitaires Saint-Luc.We characterized the cohort with the following main points: disease activity, medical and urological treatment, age and symptoms at the time of diagnosis. We also classified them accordi ng to renal fonction and screened which proportion was altered.Cystine's concentration quantification in urines and its clinic correlation were also investigated in the present work.Data correlate with literature for mean age and symptoms of diagnosis. As shown in other studies, a significant number of patients (41%) has a renal fonction impairment (stage II to IV). Disease management requires in most cases drugs in addition to nutrition advices and diet. Chelating treatment side effects were Jess frequent in our cohort(28%). Most of patients needed urologie intervention (96%).However, and against the literature, we found an approximate correlation of 28% between cystine's concentration in urine and disease activity.Our findings reinforce the chronic character of the disease, the challenge of its management as well as the disease risk for the renal fonction.

Cystinuria --- Nephritis, Hereditary --- Cohort Studies

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The detection and quantification of with high precision nucleic acid biomarkers and protein biomarkers in resource-limited settings is key to the early diagnosis of diseases and for monitoring the effects of treatments. As there is an enormous demand for high-quality biomarker detection platforms that are robust and highly applicable in resource-limited settings, this book is devoted to exploring methods for detection and quantification of biomarkers, focusing on the recent advances in this field.

Research & information: general --- SERS --- LPS --- bacteria --- endotoxin --- lipid A --- silver nanorods --- creatinine --- ZnO nanowires --- piezo-enzymatic-reaction effect --- self-powered biosensor --- immunosensors --- electrochemical immunosensors --- biosensors --- voltammetric immunosensors --- amperometric immunosensors --- impedimetric immunosensors --- eletrochemiluminescent immunosensors --- cysteine --- biothiols --- cystinuria --- portable --- fluorimeter --- bio-imaging --- cancer --- bladder cancer --- prostate cancer --- urinary biomarkers --- urinary VOCs --- machine olfaction --- GC-IMS --- GC-TOF-MS --- cancer markers --- immune checkpoints --- PD-1 --- PD-L1 --- high-aspect-ratio microfluidic channel --- parallelogram cross-section --- monodisperse droplet --- droplet generation --- SERS --- LPS --- bacteria --- endotoxin --- lipid A --- silver nanorods --- creatinine --- ZnO nanowires --- piezo-enzymatic-reaction effect --- self-powered biosensor --- immunosensors --- electrochemical immunosensors --- biosensors --- voltammetric immunosensors --- amperometric immunosensors --- impedimetric immunosensors --- eletrochemiluminescent immunosensors --- cysteine --- biothiols --- cystinuria --- portable --- fluorimeter --- bio-imaging --- cancer --- bladder cancer --- prostate cancer --- urinary biomarkers --- urinary VOCs --- machine olfaction --- GC-IMS --- GC-TOF-MS --- cancer markers --- immune checkpoints --- PD-1 --- PD-L1 --- high-aspect-ratio microfluidic channel --- parallelogram cross-section --- monodisperse droplet --- droplet generation

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

The detection and quantification of with high precision nucleic acid biomarkers and protein biomarkers in resource-limited settings is key to the early diagnosis of diseases and for monitoring the effects of treatments. As there is an enormous demand for high-quality biomarker detection platforms that are robust and highly applicable in resource-limited settings, this book is devoted to exploring methods for detection and quantification of biomarkers, focusing on the recent advances in this field.

SERS --- LPS --- bacteria --- endotoxin --- lipid A --- silver nanorods --- creatinine --- ZnO nanowires --- piezo-enzymatic-reaction effect --- self-powered biosensor --- immunosensors --- electrochemical immunosensors --- biosensors --- voltammetric immunosensors --- amperometric immunosensors --- impedimetric immunosensors --- eletrochemiluminescent immunosensors --- cysteine --- biothiols --- cystinuria --- portable --- fluorimeter --- bio-imaging --- cancer --- bladder cancer --- prostate cancer --- urinary biomarkers --- urinary VOCs --- machine olfaction --- GC-IMS --- GC-TOF-MS --- cancer markers --- immune checkpoints --- PD-1 --- PD-L1 --- high-aspect-ratio microfluidic channel --- parallelogram cross-section --- monodisperse droplet --- droplet generation