Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review

BackgroundTRIM8 gene mutations have been reported as the genetic basis of Art by Room autosomal dominant (AD) neuro-renal syndrome in children, which presents with epileptic encephalopathy, focal segmental glomerulosclerosis (FSGS), developmental delay, and mental retardation.In this study, we report the cases of two children with significant prote

read more

Bilateral Total Hip and Unilateral Knee Arthroplasties in a Young Adult with Arthropathy-Associated Intestinal Epithelial Dysplasia (Tufting Enteropathy)

Intestinal epithelial dysplasia (tufting enteropathy) is an uncommon congenital disorder.Furthermore, its association with chronic inflammatory arthropathy is rarely documented in the literature.Low prevalence rates of 1 in 100,000 live births in Western Europe exist, with Collections higher rates in North Africa and Middle Eastern countries.Malta,

read more