Browsing by Subject "autosomal dominant"

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    Native Nephrectomy with Renal Transplantation Decreases Hypertension Medication Requirements in Autosomal Dominant Polycystic Kidney Disease
    (Elsevier, 2016-01) Shumate, Ashley M.; Bahler, Clinton D.; Goggins, William C.; Sharfuddin, Asif A.; Sundaram, Chandru P.; Department of Urology, IU School of Medicine
    Purpose We assessed hypertensive control after native nephrectomy and renal transplantation in patients with autosomal dominant polycystic kidney disease. Materials and Methods Blood pressure control was studied retrospectively in 118 patients with autosomal dominant polycystic kidney disease who underwent renal transplantation between 2003 and 2013. Overall 54 patients underwent transplantation alone (group 1) and 64 underwent transplantation with concurrent ipsilateral nephrectomy (group 2). Of these 64 patients 32 underwent ipsilateral nephrectomy only (group 2a) and 32 underwent eventual delayed contralateral native nephrectomy (group 2b). The number of antihypertensive drugs and defined daily dose of each antihypertensive was recorded at transplantation and up to 36-month followup. Results Comparing preoperative to postoperative medications at 12, 24 and 36-month followup, transplantation with concurrent ipsilateral nephrectomy had a greater decrease in quantity (−1.2 vs −0.5 medications, p=0.008; −1.1 vs −0.3, p=0.007 and −1.2 vs −0.4, p=0.03, respectively) and defined daily dose of antihypertensive drug (−3.3 vs −1.0, p=0.0008; −2.9 vs −1.0, p=0.006 and −2.7 vs −0.6, p=0.007, respectively) than transplantation alone at each point. Native nephrectomy continued to be a predictor of hypertensive requirements on multivariable analysis (p <0.0001). The mean decrease in number of medications in group 2b from after ipsilateral nephrectomy to 12 months after contralateral nephrectomy was −0.6 (p=0.0005) and the mean decrease in defined daily dose was −0.6 (p=0.009). Conclusions In patients with autosomal dominant polycystic kidney disease undergoing renal transplantation, concurrent ipsilateral native nephrectomy is associated with a significant decrease in the quantity and defined daily dose of antihypertensive drugs needed for hypertension control. Delayed contralateral native nephrectomy is associated with improved control of blood pressure to an even greater degree.
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    Seizures as an early symptom of autosomal dominant Alzheimer's disease
    (Elsevier, 2019-04) Vöglein, Jonathan; Noachtar, Soheyl; McDade, Eric; Quaid, Kimberly A.; Salloway, Stephen; Ghetti, Bernardino; Noble, James; Berman, Sarah; Chhatwal, Jasmeer; Mori, Hiroshi; Fox, Nick; Allegri, Ricardo; Masters, Colin L.; Buckles, Virginia; Ringman, John M.; Rossor, Martin; Schofield, Peter R.; Sperling, Reisa; Jucker, Mathias; Laske, Christoph; Paumier, Katrina; Morris, John C.; Bateman, Randall J.; Levin, Johannes; Danek, Adrian; Medical and Molecular Genetics, School of Medicine
    Our objective was to assess the reported history of seizures in cognitively asymptomatic mutation carriers for autosomal dominant Alzheimer's disease (ADAD) and the predictive value of seizures for mutation carrier status in cognitively asymptomatic first-degree relatives of ADAD patients. Seizure occurrence in the Dominantly Inherited Alzheimer Network observational study was correlated with mutation carrier status in cognitively asymptomatic subjects. Of 276 cognitively asymptomatic individuals, 11 (4%) had experienced seizures, and nine of these carried an ADAD mutation. Thus, in the Dominantly Inherited Alzheimer Network population, seizure frequency in mutation carriers was significantly higher than in noncarriers (p = 0.04), and the positive predictive value of seizures for the presence of a pathogenic mutation was 81.8%. Among cognitively asymptomatic ADAD family members, the occurrence of seizures increases the a priori risk of 50% mutation-positive status to about 80%. This finding suggests that ADAD mutations increase the risk of seizures.