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ABSTRACT

  • Autosomal dominant polycystic kidney disease (ADPKD) (MIM 173900) is the most common inherited renal disease, accounting for 4.8 percent of the end-stage renal disease (ESRD) population in the United States and is a systemic disorder involving the heart, liver, cerebral vasculature, and connective tissue. Clinical manifestations of this disorder are highly variable within and between families. The average age of presentation is in the fourth decade of life with invariable penetrance by the age of 70 years.

  • Diagnosis of ADPKD relies on multiple sources of information including medical history, physical examination, laboratory evaluation, renal imaging, and genetic analysis. Gene linkage analysis provides no information concerning the clinical severity of the disorder and is used primarily for screening potentially eligible renal donors. Ultrasound in the imaging procedure of choice used to make a phenotypic diagnosis of ADPKD due to its sensitivity as well as cost and lack of invasiveness. Individuals from autosomal dominant polycystic kidney disease type 1 gene and gene symbol (PKD1) families with a negative ultrasound after 30 years of age have a less than 5 percent chance of being carriers of the disease.

  • Polycystic liver disease is a common manifestation in ADPKD and is useful in differentiating ADPKD from other renal cystic disorders of the kidney. Polycystic liver disease presents approximately 10 years after renal cystic disease with women more severely affected than men. Birth control pill use, pregnancy, and postmenopausal estrogen use are associated with more progressive polycystic liver disease. Although liver cystic involvement can be massive, liver function continues to remain normal.

  • Intracranial aneurysms (ICA) occur in 8 percent of ADPKD individuals as opposed to 2 percent of the general population. ICA cluster in families with a family history of ICA and are often multiple. Smoking and hypertension are not risk factors for ICA development in ADPKD. Individuals with a positive family history of ICA should be screened using time-of-flight three-dimensional magnetic resonance angiography. Reoccurrence of ICA is common in ADPKD individuals with a previous ICA, usually at least 3 years after the initial observation, and occurs more often in those individuals where rupture has occurred.

  • Hypertension is the most common renal complication in ADPKD occurring in 60 percent of individuals with normal renal function and is associated with a faster rate of progression to renal failure. Activation of the renin-angiotensin-aldosterone system plays an important role in the pathogenesis of hypertension in this disorder. Preliminary results from long-term studies suggest that angiotensin converting enzyme inhibition, in contrast to conventional diuretic therapy, may be beneficial in preventing progression to renal failure in this disorder.

  • Multiple therapies have been prescribed in experimental animal models of ADPKD and have shown success in slowing functional and structural progression of the disease. These therapies have not yet been successfully applied to man. Specifically, protein restriction has not demonstrated a significant impact on slowing progression to renal failure in human ADPKD. However, study design may not have been adequate to demonstrate a true benefit ...

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