60 research outputs found

    Genetic causes of hypercalciuric nephrolithiasis

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    Renal stone disease (nephrolithiasis) affects 3–5% of the population and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in over 35% of patients and may occur as a monogenic disorder that is more likely to manifest itself in childhood. Studies of these monogenic forms of hypercalciuric nephrolithiasis in humans, e.g. Bartter syndrome, Dent’s disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium. Thus, Bartter syndrome, an autosomal disease, is caused by mutations of the bumetanide-sensitive Na–K–Cl (NKCC2) co-transporter, the renal outer-medullary potassium (ROMK) channel, the voltage-gated chloride channel, CLC-Kb, the CLC-Kb beta subunit, barttin, or the calcium-sensing receptor (CaSR). Dent’s disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium–phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia. These studies have provided valuable insights into the renal tubular pathways that regulate calcium reabsorption and predispose to hypercalciuria and nephrolithiasis

    Reducing Head CT Use for Children With Head Injuries in a Community Emergency Department.

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    BACKGROUND AND OBJECTIVE: Clinical decision rules have reduced use of computed tomography (CT) to evaluate minor pediatric head injury in pediatric emergency departments (EDs). CT use remains high in community EDs, where the majority of children seek medical care. We sought to reduce the rate of CT scans used to evaluate pediatric head injury from 29% to 20% in a community ED. METHODS: We evaluated a quality improvement (QI) project in a community ED aimed at decreasing the use of head CT scans in children by implementing a validated head trauma prediction rule for traumatic brain injury. A multidisciplinary team identified key drivers of CT use and implemented decision aids to improve the use of prediction rules. The team identified and mitigated barriers. An affiliated children\u27s hospital offered Maintenance of Certification credit and QI coaching to participants. We used statistical process control charts to evaluate the effect of the intervention on monthly CT scan rates and performed a Wald test of equivalence to compare preintervention and postintervention CT scan proportions. RESULTS: The baseline period (February 2013-July 2014) included 695 patients with a CT scan rate of 29.2% (95% confidence interval, 25.8%-32.6%). The postintervention period (August 2014-October 2015) included 651 patients with a CT scan rate of 17.4% (95% confidence interval, 14.5%-20.2%, CONCLUSIONS: We demonstrate that a Maintenance of Certification QI project sponsored by a children\u27s hospital can facilitate evidence-based pediatric care and decrease the rate of unnecessary CT use in a community setting
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