| Print Date: | May 21, 2013, 8:15 am |
| Title | Autosomal Dominant Polycystic Kidney Disease |
| Text | Autosomal dominant Polycystic kidney disease (ADPKD) is an inherited disease that causes an irreversible decline in kidney function. ADPKD is the most common genetic cause of chronic kidney disease. ADPKD has an equal racial prevalence of 1:400 to 1:1000.
ADPKD is caused by mutations of either PKD1 on chromosome 16 or PKD2 on chromosome 4. PKD1 mutations are more common than PKD2 mutations. Also, patients with PKD1 reach end stage renal disease or die at a younger age compared to those with PKD2. Renal function remains intact until the fourth decade of life for most patients. Because many patients are asymptomatic early in the disease process, patients with ADPKD may present with hypertension, hematuria, proteinuria or renal insufficiency detected only by routine laboratory examinations. Among the symptoms reported by patients are flank pain, renal calculi, or urinary tract infections. Although most patients with ADPKD eventually require renal replacement therapy, prognosis of the disease is dependant on the a number of risk factors. Genetic factors are the most predictive risk factors for rate of disease progression. Patients with PKD1 mutaions progress more rapidly than patients with PKD2 mutations. Gender also plays a role; the male gender corresponds to an increased rate of disease pregression when compared to women. Also, early onset of the disease (including proteinuria and hematuria) correlates with a higher likelyhood of developing end stage renal disease. Furthermore, patients with hypertension should be strictly managed because it is a major risk factor for progressive disease. Without proper interventions, ADPKD may lead to death, most comonly of cardiac causes. Other common causes of death in patients with ADPKD include infection and neurologic events. |
| References: | 1. Patel, V, Chowdhury, R, Igarashi, P. Advances in the pathogenesis and treatment of polycystic kidney disease. Curr Opin Nephrol Hypertens 2009; 18:99.
2. Barua, M, Cil, O, Paterson, AD, et al. Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol 2009; 20:1833. 3. Torres, VE, Harris, PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 2009; 76:149. 4. Torres, VE, Harris, PC, Pirson, Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369:1287. 5. Hateboer, N, v Dijk, MA, Bogdanova, N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 1999; 353:103. 6. Johnson, AM, Gabow, PA. Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease. J Am Soc Nephrol 1997; 8:1560. 7. Fick-Brosnahan, GM, Tran, ZV, Johnson, AM, et al. Progression of autosomal-dominant polycystic kidney disease in children. Kidney Int 2001; 59:1654. |
| Contributor | Oday Naser (Penn State University) |
| Peer Reviewer | Eric A Walker (Penn State University) |
| Record Number | : 9498 |
| Created | 2010-03-02 18:31:44-05 |
| Modified | 2010-03-10 21:08:21.990694-05 |
| Category: | Congenital, genetic |
| Location: | Genitourinary |
| Sublocation: | Kidney |
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