Autosomal Dominant Polycystic Kidney Disease: Time for a Change?
نویسندگان
چکیده
منابع مشابه
Autosomal dominant polycystic kidney disease: time for a change?
Diagnosis and treatment of autosomal dominant polycystic kidney disease (ADPKD) is rapidly changing. Cellular pathways that involve the polycystins are being mapped and involve the primary cilium, intracellular calcium and cAMP regulation, and the mammalian target of rapamycin (mTOR) pathway. With the use of new imaging approaches, earlier diagnosis of hepatic cystic disease is possible, and me...
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 ...
متن کاملAutosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. Enlarging cysts within the kidneys are the clinical hallmark of the disease. Renal manifestations include varying degrees of kidney injury, urinary tract infections, kidney stones, and hematuria. Extrarenal manifestations can include pain, hypertension, left ventricular hypertrophy, hepati...
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ژورنال
عنوان ژورنال: Journal of the American Society of Nephrology
سال: 2007
ISSN: 1046-6673,1533-3450
DOI: 10.1681/asn.2007020155