Polycystic kidney disease natural history: Difference between revisions
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===Extra-renal Manifestations: Natural History, Complications, and Prognosis=== | ===Extra-renal Manifestations: Natural History, Complications, and Prognosis=== | ||
* The most common extra-renal manifestation of ADPKD is hepatic cysts. It occurs in both ADPKD1 and ADPKD2 and is rarely seen in young children. Classically, the frequency of liver cysts increases with age and declining renal function. The CRISP trial showed that approximately 60% of patients between 15 and 24 years of age have documented hepatic cysts on MRI compared to 95% of patients between the ages of 35 and 46. Hepatic cysts are also more common and larger in women. This can be explained by the expression of estrogen receptors on the epithelial lining hepatic cysts. Clinically, evidence that estrogen increases hepatic cyst size and number is apparent in women with ADPKD and multiple pregnancies or on oral contraceptive pills that have a higher prevalence of liver cysts than their age matched controls. Liver disease in ADPKD is commonly asymptomatic, but symptoms related to mass-effect such as dyspnea and early satiety, hepatic venous and biliary obstruction. Pain is rare but can be associated cyst hemorrhage, infection, or torsion. | * The most common extra-renal manifestation of ADPKD is hepatic cysts. It occurs in both ADPKD1 and ADPKD2 and is rarely seen in young children. Classically, the frequency of liver cysts increases with age and declining renal function.<ref name="pmid2365280">{{cite journal| author=Gabow PA, Johnson AM, Kaehny WD, Manco-Johnson ML, Duley IT, Everson GT| title=Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. | journal=Hepatology | year= 1990 | volume= 11 | issue= 6 | pages= 1033-7 | pmid=2365280 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2365280 }} </ref> The CRISP trial showed that approximately 60% of patients between 15 and 24 years of age have documented hepatic cysts on MRI compared to 95% of patients between the ages of 35 and 46.<ref name="pmid17699192">{{cite journal| author=Bae KT, Zhu F, Chapman AB, Torres VE, Grantham JJ, Guay-Woodford LM et al.| title=Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. | journal=Clin J Am Soc Nephrol | year= 2006 | volume= 1 | issue= 1 | pages= 64-9 | pmid=17699192 | doi=10.2215/CJN.00080605 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17699192 }} </ref> Hepatic cysts are also more common and larger in women. This can be explained by the expression of estrogen receptors on the epithelial lining hepatic cysts. Clinically, evidence that estrogen increases hepatic cyst size and number is apparent in women with ADPKD and multiple pregnancies or on oral contraceptive pills that have a higher prevalence of liver cysts than their age matched controls.<ref name="pmid2365280">{{cite journal| author=Gabow PA, Johnson AM, Kaehny WD, Manco-Johnson ML, Duley IT, Everson GT| title=Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. | journal=Hepatology | year= 1990 | volume= 11 | issue= 6 | pages= 1033-7 | pmid=2365280 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2365280 }} </ref> Liver disease in ADPKD is commonly asymptomatic, but symptoms related to mass-effect such as dyspnea and early satiety, hepatic venous and biliary obstruction. Pain is rare but can be associated cyst hemorrhage, infection, or torsion.<ref name="pmid17434405">{{cite journal| author=Torres VE, Harris PC, Pirson Y| title=Autosomal dominant polycystic kidney disease. | journal=Lancet | year= 2007 | volume= 369 | issue= 9569 | pages= 1287-301 | pmid=17434405 | doi=10.1016/S0140-6736(07)60601-1 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17434405 }} </ref> | ||
==References== | ==References== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
Natural History, Complications, and Prognosis
Renal Manifestations: Natural History, Complications, and Prognosis
- The earliest detectable functional aberration seen in patients with ADPKD is impaired concentrating capacity with a suboptimal increase in urinary osmolality following water deprivation.[1]
- The second early manifestation of disease is hypertension. Up to 75% of patients with ADPKD on imaging without any renal insufficiency are hypertensive.[2] Even in young patients, 50% of those aged 20-34 years are hypertensive despite normal renal function.[3] This is likely to be linked to an increase in the activity of the renin-angiotensin-aldosterone system (RAAS). RAAS overactivity is due to the increase in renin release secondary to renal ischemia brought on by cystic expansion and stretching of renal arterioles. This is further emphasized by the fact that patients with ADPKD generally respond better to ACE inhibitors and angiotensin receptor blockers than patients with essential hypertension.[4]
- Overt clinical signs and symptoms of renal disease usually appear during the fourth or fifth decade.[5]
- Approximately 60% of patients suffer from flank pain often requiring cyst decompression surgery. Expanding cysts can often by complicated by hemorrhage that self-resolves but usually causes significant pain.[5]
- Urinary tract infections occur in up to 70% of patients particularly with gram negative bacteria. Ascending infection can lead to pyelonephritis or cyst infection which are often difficult to differentiate.[6]
- Nephrolithiasis is also very common due to the distorted urinary system. Approximately 35% of patients will have some form or renal stones.[5]
- Hematuria can be seen in ADPKD especially in advanced cases; however, overt proteinuria is usually uncommon in the context of ADPKD, and proteinuria > 1 g/day should prompt the consideration of a second disease process.[7][5]
- Generally, PKD1 mutants have more severe renal disease with mean age at onset of ESRD around 50 years compared to 75 years in PKD2 mutants. But, regardless of the mutation, 50% of ADPKD patients will reach ESRD by age 60 years.[8]
- Several factors have been linked to a worse renal outcome (renal function for given age) including early age at diagnosis, male gender, uncontrolled hypertension, left ventricular hypertrophy, cystic liver, gross hematuria, larger kidney volume, and urinary tract infections.[9]
Extra-renal Manifestations: Natural History, Complications, and Prognosis
- The most common extra-renal manifestation of ADPKD is hepatic cysts. It occurs in both ADPKD1 and ADPKD2 and is rarely seen in young children. Classically, the frequency of liver cysts increases with age and declining renal function.[10] The CRISP trial showed that approximately 60% of patients between 15 and 24 years of age have documented hepatic cysts on MRI compared to 95% of patients between the ages of 35 and 46.[11] Hepatic cysts are also more common and larger in women. This can be explained by the expression of estrogen receptors on the epithelial lining hepatic cysts. Clinically, evidence that estrogen increases hepatic cyst size and number is apparent in women with ADPKD and multiple pregnancies or on oral contraceptive pills that have a higher prevalence of liver cysts than their age matched controls.[10] Liver disease in ADPKD is commonly asymptomatic, but symptoms related to mass-effect such as dyspnea and early satiety, hepatic venous and biliary obstruction. Pain is rare but can be associated cyst hemorrhage, infection, or torsion.[12]
References
- ↑ Gabow PA, Kaehny WD, Johnson AM, Duley IT, Manco-Johnson M, Lezotte DC; et al. (1989). "The clinical utility of renal concentrating capacity in polycystic kidney disease". Kidney Int. 35 (2): 675–80. PMID 2709672.
- ↑ Gabow PA (1990). "Autosomal dominant polycystic kidney disease--more than a renal disease". Am J Kidney Dis. 16 (5): 403–13. PMID 2239929.
- ↑ Kelleher CL, McFann KK, Johnson AM, Schrier RW (2004). "Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population". Am J Hypertens. 17 (11 Pt 1): 1029–34. doi:10.1016/j.amjhyper.2004.06.020. PMID 15533729.
- ↑ Chapman AB, Johnson A, Gabow PA, Schrier RW (1990). "The renin-angiotensin-aldosterone system and autosomal dominant polycystic kidney disease". N Engl J Med. 323 (16): 1091–6. doi:10.1056/NEJM199010183231602. PMID 2215576.
- ↑ 5.0 5.1 5.2 5.3 Fick GM, Gabow PA (1994). "Natural history of autosomal dominant polycystic kidney disease". Annu Rev Med. 45: 23–9. doi:10.1146/annurev.med.45.1.23. PMID 8198379.
- ↑ Schwab SJ, Bander SJ, Klahr S (1987). "Renal infection in autosomal dominant polycystic kidney disease". Am J Med. 82 (4): 714–8. PMID 3565428.
- ↑ Gabow PA, Duley I, Johnson AM (1992). "Clinical profiles of gross hematuria in autosomal dominant polycystic kidney disease". Am J Kidney Dis. 20 (2): 140–3. PMID 1496966.
- ↑ Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL; et al. (1999). "Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group". Lancet. 353 (9147): 103–7. PMID 10023895.
- ↑ Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT; et al. (1992). "Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease". Kidney Int. 41 (5): 1311–9. PMID 1614046.
- ↑ 10.0 10.1 Gabow PA, Johnson AM, Kaehny WD, Manco-Johnson ML, Duley IT, Everson GT (1990). "Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease". Hepatology. 11 (6): 1033–7. PMID 2365280 Check
|pmid=value (help). - ↑ Bae KT, Zhu F, Chapman AB, Torres VE, Grantham JJ, Guay-Woodford LM; et al. (2006). "Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort". Clin J Am Soc Nephrol. 1 (1): 64–9. doi:10.2215/CJN.00080605. PMID 17699192 Check
|pmid=value (help). - ↑ Torres VE, Harris PC, Pirson Y (2007). "Autosomal dominant polycystic kidney disease". Lancet. 369 (9569): 1287–301. doi:10.1016/S0140-6736(07)60601-1. PMID 17434405.