Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease
نویسندگان
چکیده
منابع مشابه
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
متن کاملClinical management of polycystic kidney disease.
ADPKD is caused by mutations in two genes:1,2 PKD1 on chromosome 16p13.3, and PKD2, on chromosome 4q21-23. The proteins encoded by PKD1 and PKD2 are polycystin-1 and polycystin-2 (Fig 1).3 Polycystin-1 is probably involved in protein-protein or proteincarbohydrate interactions. Polycystin-2 is a nonselective cation channel that can conduct calcium ions. Mutations in either PKD1 or PKD2 prod...
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انتخاب نامساعد یکی از مشکلات اساسی در صنعت بیمه است. که ابتدا در سال 1960، توسط روتشیلد واستیگلیتز مورد بحث ومطالعه قرار گرفت ازآن موقع تاکنون بسیاری از پژوهشگران مدل های مختلفی را برای تجزیه و تحلیل تقاضا برای صنعت بیمه عمر که تماما ناشی از عدم قطعیت در این صنعت میباشد انجام داده اند .وهدف از آن پیدا کردن شرایطی است که تحت آن شرایط انتخاب یا کنار گذاشتن یک بیمه گزار به نفع و یا زیان شرکت بیمه ...
15 صفحه اولMolecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations.
BACKGROUND AND OBJECTIVES Gene-based mutation screening is now available and has the potential to provide diagnostic confirmation or exclusion of autosomal dominant polycystic kidney disease. This study illustrates its utility and limitations in the clinical setting. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS Using a molecular diagnostic service, genomic DNA of one affected individual from...
متن کاملEnvironmental hit on a genetic basis in polycystic kidney disease.
1 Shixuan Wang and Zheng Dong * 2 Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta University 3 and Charlie Norwood VA Medical Center, Augusta, GA 30912 4 5 * Correspondence: 6 Zheng Dong, PhD 7 Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta University 8 and Charlie Norwood VA Medical Center, Augusta, GA 30912. Email: zdong@augusta...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2007
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2007.05.004