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A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3
This study examined the effects of 12 missense variations identified in progressive familial intrahepatic cholestasis type 3 patients and classified these variations on the basis of the defects thus identified and explored potential rescue of trafficking‐defective mutants by pharmacological means.
Value of biomarkers for predicting immunoglobulin A vasculitis nephritis outcome in an adult prospective cohort
Urinary IgA level may improve patient risk stratification for poor outcome in IgAV patients, and biomarkers of nephritis outcomes were assessed.
[Idiopathic nephrotic syndrome].
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.
Characterization of these SNPs provide an entry for understanding immune dysregulation in NS and introducing a genomically defined classification as well as empowered discovery of three independent risk SNPs for pediatric SSNS.
Prevalence of herpesviruses at onset of idiopathic nephrotic syndrome
The prevalence of positive EBV DNA detection and recent infection or reactivation is higher in children at onset of INS compared to a population matched for age, gender, and time of sampling.
APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.
The HR genotype is frequent in FSGS patients with African ancestry in the authors' cohort, especially in those originating from the West Indies, and confer a poor renal prognosis, usually not associated with other causative mutations in monogenic SRNS genes.
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most patients, yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems.
Mycophenolate mofetil in steroid-dependent idiopathic nephrotic syndrome
MMF is more efficient in young patients treated early in the disease course while nearly all patients relapsed after withdrawal of the drug, and the age of MMF initiation was an independent factor associated with efficiency.