Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.

Introduction: Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition associated with (Spalt like Transcription Factor 1), is reported to be present in 1:238,000 individuals in the general population. TBS is characterized by the triad of anorectal malformations, dysplastic ears, with or without hearing impairment, and hand or thumb anomalies. Although kidney involvement is less common in TBS, the disease can progress to kidney failure.

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.

Significance Statement: Accurate diagnosis of a patient's underlying cause of CKD can influence management and ultimately overall health. The single-arm, interventional, prospective Renasight Clinical Application, Review, and Evaluation study assessed the utility of genetic testing with a 385 gene kidney disease panel on the diagnosis and management of 1623 patients with CKD. Among 20.

Pericardial Effusion Causing Cardiac Tamponade in a 10-Year-Old Male.

A 10-year-old male with a past medical history of premature pubarche, mild persistent asthma, and eczema presented to the emergency department with progressive dyspnea and chest pain. On examination, he was found to be tachycardic and tachypneic. Chest radiograph demonstrated cardiomegaly, bilateral pleural effusions, and scattered atelectasis.

Magnesium Supplementation Shortens Hemodialysis-Associated Prolonged QT.

Hemodialysis affects myocardial depolarization and repolarization notably lengthening the QT interval. Prolonged QT, in turn, has been a reliable surrogate for higher risk of potentially lethal ventricular arrhythmias. We present an adolescent girl with end-stage kidney disease who consistently developed prolonged QT following hemodialysis sessions.

Retrospective cohort study of individuals born with low birthweight: implications for screening practices.

Background: Previous studies have established an association between low birthweight (LBW) and future kidney disease, but few have explored the progression of kidney dysfunction through the pediatric years leading up through adolescence and young adulthood.

Methods: To better understand the temporal effects of birthweight on kidney disease progression, we conducted a retrospective cohort study comparing the glomerular filtration rate (GFR) between LBW (<2500 grams) and normal birthweight (NBW) infants who were admitted to the neonatal intensive care unit (NICU) at our institution from 1992 to 2006.

Results: Age at follow-up ranged 1-26 years old.

Steroid Responsive Atypical Hemolytic Uremic Syndrome Triggered by Influenza B Infection.

Atypical hemolytic uremic syndrome (aHUS) is characterized by uncontrolled complement activation leading to thrombotic microangiopathy and severe end-organ damage. The most common trigger for an episode of aHUS in the background of genetic deregulation of the alternative complement pathway is systemic infection. There are only 4 reported cases of aHUS triggered by influenza B thus far.

Bortezomib in the treatment of antibody-mediated rejection in pediatric kidney transplant recipients: A multicenter Midwest Pediatric Nephrology Consortium study.

Antibody-mediated rejection leads to allograft loss after kidney transplantation. Bortezomib has been used in adults for the reversal of antibody-mediated rejection; however, pediatric data are limited. This retrospective study was conducted in collaboration with the Midwest Pediatric Nephrology Consortium.

TGF-beta signal transduction in chronic kidney disease.

Transforming growth factor (TGF)-beta is a central stimulus of the events leading to chronic progressive kidney disease, having been implicated in the regulation of cell proliferation, hypertrophy, apoptosis and fibrogenesis. The fact that it mediates these varied events suggests that multiple mechanisms play a role in determining the outcome of TGF-beta signaling. Regulation begins with the availability and activation of TGF-beta and continues through receptor expression and localization, control of the TGF-beta family-specific Smad signaling proteins, and interaction of the Smads with multiple signaling pathways extending into the nucleus.