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Stein, Deborah

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Stein

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Deborah

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Stein, Deborah
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    Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
    (2015) Braun, Daniela A; Schueler, Markus; Halbritter, Jan; Gee, Heon Yung; Porath, Jonathan D.; Lawson, Jennifer A.; Airik, Rannar; Shril, Shirlee; Allen, Susan J.; Stein, Deborah; Al Kindy, Adila; Beck, Bodo B.; Cengiz, Nurcan; Moorani, Khemchand N.; Ozaltin, Fatih; Hashmi, Seema; Sayer, John A.; Bockenhauer, Detlef; Soliman, Neveen A.; Otto, Edgar A.; Lifton, Richard P.; Hildebrandt, Friedhelm
    Chronically increased echogenicity on renal ultrasound is a sensitive early finding of chronic kidney disease that can be detected before manifestation of other symptoms. Increased echogenicity, however, is not specific for a certain etiology of chronic kidney disease. Here, we performed whole exome sequencing in 79 consanguineous or familial cases of suspected nephronophthisis in order to determine the underlying molecular disease cause. In 50 cases, there was a causative mutation in a known monogenic disease gene. In 32 of these cases whole exome sequencing confirmed the diagnosis of a nephronophthisis-related ciliopathy. In 8 cases it revealed the diagnosis of a renal tubulopathy. The remaining 10 cases were identified as Alport syndrome (4), autosomal-recessive polycystic kidney disease (2), congenital anomalies of the kidney and urinary tract (3), and APECED syndrome (1). In 5 families, in whom mutations in known monogenic genes were excluded, we applied homozygosity mapping for variant filtering, and identified 5 novel candidate genes (RBM48, FAM186B, PIAS1, INCENP, and RCOR1) for renal ciliopathies. Thus, whole exome sequencing allows the detection of the causative mutation in 2/3 of affected individuals, thereby presenting the etiologic diagnosis and allows identification of novel candidate genes.
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    Evaluation and treatment of hypertensive crises in children
    (Dove Medical Press, 2016) Stein, Deborah; Ferguson, Michael
    Hypertensive crises in children are medical emergencies that must be identified, evaluated, and treated promptly and appropriately to prevent end-organ injury and even death. Treatment in the acute setting typically includes continuous intravenous antihypertensive medications with monitoring in the intensive care unit setting. Medications commonly used to treat severe hypertension have been poorly studied in children. Dosing guidelines are available, although few pediatric-specific trials have been conducted to facilitate evidence-based therapy. Regardless of what medication is used, blood pressure should be lowered gradually to allow for accommodation of autoregulatory mechanisms and to prevent cerebral ischemia. Determining the underlying cause of the blood pressure elevation may be helpful in guiding therapy.