Polycystic kidney disease natural history: Difference between revisions
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==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
===Natural History=== | ===Natural History=== | ||
*The | *The earliest detectable functional aberration seen in patients with ADPKD is impaired concentrating capacity with a suboptimal increase in urinary osmolality following water deprivation.<ref name="pmid2709672">{{cite journal| author=Gabow PA, Kaehny WD, Johnson AM, Duley IT, Manco-Johnson M, Lezotte DC et al.| title=The clinical utility of renal concentrating capacity in polycystic kidney disease. | journal=Kidney Int | year= 1989 | volume= 35 | issue= 2 | pages= 675-80 | pmid=2709672 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2709672 }} </ref> | ||
*The | *The second early manifestation of disease is hypertension. Up to 75% of patients with ADPKD on imaging without any renal insufficiency are hypertensive.<ref name="pmid2239929">{{cite journal| author=Gabow PA| title=Autosomal dominant polycystic kidney disease--more than a renal disease. | journal=Am J Kidney Dis | year= 1990 | volume= 16 | issue= 5 | pages= 403-13 | pmid=2239929 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2239929 }} </ref> | ||
* | *Even in young patients, 50% of those aged 20-34 years are hypertensive despite normal renal function.<ref name="pmid15533729">{{cite journal| author=Kelleher CL, McFann KK, Johnson AM, Schrier RW| title=Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population. | journal=Am J Hypertens | year= 2004 | volume= 17 | issue= 11 Pt 1 | pages= 1029-34 | pmid=15533729 | doi=10.1016/j.amjhyper.2004.06.020 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15533729 }} </ref> | ||
*Overt clinical signs and symptoms of renal disease usually appear during the fourth or fifth decade.<ref name="pmid8198379">{{cite journal| author=Fick GM, Gabow PA| title=Natural history of autosomal dominant polycystic kidney disease. | journal=Annu Rev Med | year= 1994 | volume= 45 | issue= | pages= 23-9 | pmid=8198379 | doi=10.1146/annurev.med.45.1.23 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8198379 }} </ref> | |||
===Complications=== | ===Complications=== | ||
*Common complications of | *Common complications of polycystic kidney disease include:<ref name="pmid3565428">{{cite journal| author=Schwab SJ, Bander SJ, Klahr S| title=Renal infection in autosomal dominant polycystic kidney disease. | journal=Am J Med | year= 1987 | volume= 82 | issue= 4 | pages= 714-8 | pmid=3565428 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3565428 }} </ref><ref name="pmid8198379" /> | ||
** | **Urinary tract infections | ||
** | **Pyelonephritis | ||
** | **Cyst infection | ||
**Nephrolithiasis | |||
===Prognosis=== | ===Prognosis=== | ||
*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.<ref name="pmid8198379" /> | |||
*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.<ref name="pmid10023895">{{cite journal| author=Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL et al.| title=Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. | journal=Lancet | year= 1999 | volume= 353 | issue= 9147 | pages= 103-7 | pmid=10023895 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10023895 }} </ref> | |||
*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.<ref name="pmid1496966">{{cite journal| author=Gabow PA, Duley I, Johnson AM| title=Clinical profiles of gross hematuria in autosomal dominant polycystic kidney disease. | journal=Am J Kidney Dis | year= 1992 | volume= 20 | issue= 2 | pages= 140-3 | pmid=1496966 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1496966 }} </ref><ref name="pmid8198379" /> | |||
*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.<ref name="pmid1614046">{{cite journal| author=Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT et al.| title=Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. | journal=Kidney Int | year= 1992 | volume= 41 | issue= 5 | pages= 1311-9 | pmid=1614046 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1614046 }} </ref> | |||
* 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.<ref name="pmid8198379" | |||
* | |||
* 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.<ref name="pmid1496966">{{cite journal| author=Gabow PA, Duley I, Johnson AM| title=Clinical profiles of gross hematuria in autosomal dominant polycystic kidney disease. | journal=Am J Kidney Dis | year= 1992 | volume= 20 | issue= 2 | pages= 140-3 | pmid=1496966 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1496966 }} </ref><ref name="pmid8198379" | |||
* 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.<ref name="pmid1614046">{{cite journal| author=Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT et al.| title=Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. | journal=Kidney Int | year= 1992 | volume= 41 | issue= 5 | pages= 1311-9 | pmid=1614046 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1614046 }} </ref> | |||
===Extra-renal Manifestations: Natural History, Complications, and Prognosis=== | ===Extra-renal Manifestations: Natural History, Complications, and Prognosis=== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul
Overview
The earliest clinical signs of disease in patients with ADPKD include impaired renal concentrating capacity and hypertension. Other signs include flank pain, nephrolithiasis and urinary tract infections. In general half of the patients diagnosed with ADPKD will progress to ESRD by age 60. PDK1 mutants usually progress faster than PDK2 mutants. Factors associated with worse renal outcome include early age at diagnosis, male gender, uncontrolled hypertension, left ventricular hypertrophy, and cystic liver. Extra-renal manifestations in ADPKD include hepatic cysts usually more prevalent in women and with advancing age and declining renal function. Cysts can also be seen in the seminal vesicles, pancreas, and arachnoid membrane. Furthermore, the development of intracranial aneurysms can be a lethal complication in ADPKD patients whose risk is closely linked to the family history of aneurysms. Mitral valve prolapse is also a common cardiac manifestation seen in 25% of patients.
Natural History, Complications, and Prognosis
Natural History
- 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]
- Overt clinical signs and symptoms of renal disease usually appear during the fourth or fifth decade.[4]
Complications
- Common complications of polycystic kidney disease include:[5][4]
- Urinary tract infections
- Pyelonephritis
- Cyst infection
- Nephrolithiasis
Prognosis
- 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.[4]
- 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.[6]
- 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][4]
- 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.[8]
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.[9] 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.[10] 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.[9] 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.[11]
- Cysts can also be found in other organs including the seminal vesicles (40% of men), pancreas (5%), and arachnoid membrane (8%). These are usually asymptomatic but rare cases of recurrent pancreatitis and increased risk of subdural hemorrhage have been reported. [11]
- One of the most serious extra-renal manifestations is vascular defects including intracranial aneurysms, thoracic aortic aneurysms (not abdominal) and dissections, and coronary artery aneurysms directly related to polycystins (protein products of PKD1 and 2) expresses on the surface of vascular smooth muscle cells.[12] Family history is essential in the risk stratification for intracranial aneurysm formation. Intracranial aneurysms can be seen in 6% of patients with no family history of aneurysms compared to 16% of patients with a positive family history.[13] The aneurysms are usually asymptomatic and the mean age at rupture is at 39 years, 12 years younger than in the general population.[11]
- Mitral valve prolapse is also a common extra-renal manifestation seen in approximately 25% of ADPKD patients on echocardiography. Aortic regurgitation can occur in association with ascending aortic aneurysms. Valvular disease is often asympmtomatic in ADPKD patients and very rarely requires valve replacement.[14]
- Significant diverticulosis can be seen in more than half of ADPKD patients especially those in ESRD on hemodialysis.[15]
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.
- ↑ 4.0 4.1 4.2 4.3 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.
- ↑ 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, 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.
- ↑ 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.
- ↑ 9.0 9.1 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). - ↑ 11.0 11.1 11.2 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.
- ↑ Torres VE, Cai Y, Chen X, Wu GQ, Geng L, Cleghorn KA; et al. (2001). "Vascular expression of polycystin-2". J Am Soc Nephrol. 12 (1): 1–9. PMID 11134244 Check
|pmid=value (help). - ↑ Pirson Y, Chauveau D, Torres V (2002). "Management of cerebral aneurysms in autosomal dominant polycystic kidney disease". J Am Soc Nephrol. 13 (1): 269–76. PMID 11752048.
- ↑ Hossack KF, Leddy CL, Johnson AM, Schrier RW, Gabow PA (1988). "Echocardiographic findings in autosomal dominant polycystic kidney disease". N Engl J Med. 319 (14): 907–12. doi:10.1056/NEJM198810063191404. PMID 3419455.
- ↑ Lederman ED, McCoy G, Conti DJ, Lee EC (2000). "Diverticulitis and polycystic kidney disease". Am Surg. 66 (2): 200–3. PMID 10695753 Check
|pmid=value (help).