PKD1 (polycystic kidney disease 1 (autosomal dominant))
نویسندگان
چکیده
منابع مشابه
Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...
متن کاملA Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
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: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2012
ISSN: 1768-3262
DOI: 10.4267/2042/47263