An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases.

Rare respiratory diseases (RRDs) are a heterogeneous group of disorders that collectively represent a significant health care burden. In recent years, strong advocacy and policy initiatives have led to advances in the implementation of research and clinical care for rare diseases. The development of specialized centers and research networks has facilitated support for affected individuals as well as emerging programs in basic, translational, and clinical research.

Heterozygous loss-of-function mutation in Odd-skipped related 1 () is associated with vesicoureteric reflux, duplex systems, and hydronephrosis.

Odd-skipped related 1 (Osr1) is a transcriptional repressor that plays critical roles in maintaining the mesenchymal stem cell population within the developing kidney. Here, we report that newborn pups with a heterozygous null mutation in exhibit a 21% incidence of vesicoureteric reflux and have hydronephrosis and urinary tract duplications. Newborn pups have a short intravesical ureter, resulting in a less competent ureterovesical junction which arises from a delay in urinary tract development.

A single-center cohort of Canadian children with VUR reveals renal phenotypes important for genetic studies.

Background: Many genes and loci have been reported in genetic studies of primary vesicoureteral reflux (VUR), but few have been reproduced in independent cohorts, perhaps because of phenotype heterogeneity. We phenotyped children with VUR who attended urology clinics so we could establish criteria to stratify patients based on the presence or absence of a renal malformation.

Methods: History, chart review, and DNA were obtained for 200 children with VUR from 189 families to determine the grade of VUR, the mode of presentation, and the family history for each child.

Interplay between vesicoureteric reflux and kidney infection in the development of reflux nephropathy in mice.

Vesicoureteric reflux (VUR) is a common congenital defect of the urinary tract that is usually discovered after a child develops a urinary tract infection. It is associated with reflux nephropathy, a renal lesion characterized by the presence of chronic tubulointersitial inflammation and fibrosis. Most patients are diagnosed with reflux nephropathy after one or more febrile urinary tract infections, suggesting a potential role for infection in its development.

Assessing urinary tract defects in mice: methods to detect the presence of vesicoureteric reflux and urinary tract obstruction.

Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) encompass a spectrum of kidney and urinary tract disorders. Here, we describe two assays that can be used to determine if a mouse has vesicoureteric reflux (VUR) or urinary tract obstruction, two urinary tract defects observed in CAKUT. To test for VUR, dye is injected into the mouse bladder and then monitored to determine if it passes retrogradely from the bladder towards the kidneys, indicating the presence of VUR.