Adult polycystic kidney disease

Other examples of single-gene diseases with delayed age of onset include familial breast cancer, familial colon cancer, adult polycystic kidney disease, and hemochromatosis. 

Adult polycystic kidney disease (APKD) is one of the most common autosomal dominant diseases, affecting about 1/1,000 whites. The key feature of this disease is the progressive accumulation of renal cysts, which ultimately culminate in kidney failure. APKD is responsible for approximately 10% of end-stage renal disease in North America. Patients may also have hypertension, cerebral aneurysms, liver cysts, and cardiac valvular defects. 

A study of an extended family in Venezuela with Huntington s chorea demonstrated that family members with the disease show a distinct and characteristic pattern of restriction fragment lengths, leading to a new screening test. The same methods of investigation revealed patterns for cystic fibrosis, adult polycystic kidney disease, Due lien nc muscular dystrophy, and others. 

Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 1985 317 542-4. 

Polycystic kidney disease is a signiiicant cause of renal failure that presents from early infancy to adulthood. Early-onset cases tend to affect one family member or siblings, while adult-onset cases often show a vertical pattern in the pedigree. Which of the following offers the best explanation of these facts ... 

Two types of polycystic liver disease (PLD) have been identified one is related to the autosomal dominant polycystic kidney disease (ADPKD) linked to PKD 1 or PKD 2, while the second form is an isolated form totally unlinked to PKD 1 or PKD 2. Patients with PLD will present liver involvement in approximately 45% of cases (Suchy 2003 Pirson et al. 1996). While ADPKD is usually a disease of adults, about l%-2% of patients display an early manifesting clinical course and may die perinatally. 

Porch P, Noe HN, Stapleton FB (1986) Unilateral presentation of adult-type polycystic kidney disease in children. J Urol 135 744-746... 

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