High-Resolution Melt as a Screening Method in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
نویسندگان
چکیده
منابع مشابه
Hypertension in autosomal-dominant polycystic kidney disease (ADPKD)
Cardiovascular (CV) complications are the major cause of death in autosomal-dominant polycystic kidney disease (ADPKD) patients. Hypertension is common in these patients even before the onset of renal insufficiency. Blood pressure (BP) elevation is a key factor in patient outcome, mainly owing to the high prevalence of target organ damage together with a poor renal prognosis when BP is increase...
متن کاملautosomal dominant polycystic kidney disease (adpkd) in a large iranian family
study of a family with autosomal dominant polycystic kidney diseases (adpkd) in five generations, including 96 healthy and 47 affected individuals, has been carried out in tehran. investigation on individuals, including final diagnoses by clinical findings, sonography, radiography and laboratory results, have lead to the completion of genealogical chart of the family. the affected individuals h...
متن کاملAutosomal dominant polycystic kidney disease.
The lack of reliable data on frequency, age of onset, survival, spontaneous mutation rate and prognosis in autosomal dominant polycystic kidney disease is a continual source of frustration to physicians involved in counselling patients and their relatives. The only major study to address all of these issues in a defined population was presented by Dalgaard as a 251-page doctoral thesis in 1957 ...
متن کاملAutosomal Dominant Polycystic Kidney Disease
recessive forms (1–3), autosomal dominant polycystic kidney disease (ADPKD) with an incidence of 1 : 500 to 1 : 1000 is one of the commonest hereditary diseases (4). Some 5 million people worldwide are affected. In many countries ADPKD is the fourth most frequent cause of end-stage renal failure. About 85% of these diseases are caused by mutations in the PKD1 gene, the remaining 15% are due to ...
متن کاملAutosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation ...
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ژورنال
عنوان ژورنال: Journal of Clinical Laboratory Analysis
سال: 2014
ISSN: 0887-8013
DOI: 10.1002/jcla.21689