Search results for "Pediatric nephrology"
showing 3 items of 3 documents
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement
2018
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management …
Congenital Solitary Kidney in Children: Size Matters
2016
We assessed renal function outcome in children with congenital solitary kidney and evaluated prognostic risk factors.We retrospectively studied the clinical charts of 210 children presenting with congenital solitary kidney at 2 pediatric nephrology and 5 pediatric units between January 2009 and October 2012. Children 0 to 18 years old with a congenital solitary kidney confirmed by scintigraphy were enrolled. Of the patients 146 were suitable for analysis. Median followup was 4.6 years. Primary outcome was decreased estimated glomerular filtration rate, and secondary outcome was occurrence of proteinuria and/or systemic hypertension. Primary outcome-free survival analysis was performed, incl…
American College of Rheumatology Provisional Criteria for Clinically Relevant Improvement in Children and Adolescents With Childhood-Onset Systemic L…
2019
OBJECTIVE: To develop a Childhood Lupus Improvement Index (CHILI) as a tool to measure response to therapy in childhood-onset systemic lupus erythematosus (cSLE), with a focus on clinically relevant improvement (CRIc SLE ). METHODS: Pediatric nephrology and rheumatology subspecialists (n = 213) experienced in cSLE management were invited to define CRIc SLE and rate a total of 433 unique patient profiles for the presence/absence of CRIc SLE . Patient profiles included the following cSLE core response variables (CRVs): global assessment of patient well-being (patient-global), physician assessment of cSLE activity (MD-global), disease activity index score (here, we used the Systemic Lupus Eryt…