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{{Polycystic kidney disease}}
{{Polycystic kidney disease}}
{{CMG}} {{AE}} {{AN}}
{{CMG}}; {{AE}}{{MKA}}, [[User:Sergekorjian|Serge Korjian]], [[User:YazanDaaboul|Yazan Daaboul]]


==Overview==
==Overview==
Polycystic kidney disease is a multiorgan and progressive disorder characterized by formation of [[cyst]]s in [[kidney]] and other organs like [[pancreas]], [[liver]] and [[spleen]].
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 [[Liver mass|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. Most cases of ARPKD present in the [[neonatal]] period with some disease findings detected on [[prenatal]] [[ultrasound]]. Most feared and common complication of ARPKD is [[pulmonary]] [[hypoplasia]]. Half of ARPKD patients usually progress to [[ESRD]] by age of 10. The prognosis of ARPKD improves in patients who survive the first few months of life. Survival at 15 years for patients of ARPKD ranges from 50% - 80%.
==Natural History==
*Symptoms of polycystic kidney disease begin in the third or fourth decade of life. However, the renal [[cyst]]s can be detected as early as childhood or in utero.
*The [[cyst]]s gradually grow in size replacing most of the renal tissue, compromising its normal function.
*[[Creatinine]] begins to built up and eventually the patient goes into [[end stage renal disease]].


==Complications==
==Natural History, Complications, and Prognosis==
*[[Anemia]]
===Natural History===
*Rupture of [[cyst]]s
Autosomal dominant polycystic kidney disease (ADPKD):
*Infection of liver [[cyst]]s
*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>
*[[Chronic renal failure]]
*The second early manifestation of disease is [[hypertension]]. Up to 75% of patients with ADPKD on imaging without any [[renal insufficiency]] are [[Hypertension|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>
*[[Hypertension]]
*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>
*[[Nephrolithiasis]]
*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>
*[[Liver failure]]
*[[Urinary tract infection]]


==Prognosis==
Autosomal recessive polycystic kidney disease (ARPKD):
*The disease gets worse slowly. Eventually it leads to end-stage [[chronic renal failure]].
* Most affected individuals present in the [[neonatal]] period with some disease findings detected in [[prenatal]] [[obstetric]] [[ultrasounds]].<ref name="pmid16767405">{{cite journal| author=Sweeney WE, Avner ED| title=Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). | journal=Cell Tissue Res | year= 2006 | volume= 326 | issue= 3 | pages= 671-85 | pmid=16767405 | doi=10.1007/s00441-006-0226-0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16767405  }}</ref>
*It is also associated with liver disease, including infection of liver [[cyst]]s.
* The most common initial findings in ARPKD patients involve abnormal renal structure and function.<ref name="pmid9587064">{{cite journal| author=Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G| title=Autosomal recessive polycystic kidney disease. | journal=J Mol Med (Berl) | year= 1998 | volume= 76 | issue= 5 | pages= 303-9 | pmid=9587064 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9587064  }}</ref>
*Medical treatment may relieve symptoms for many years.
* Approximately 30% of patients have no lab abnormalities at presentation.
*People with PKD who do not have other diseases may be good candidates for a kidney transplant.
 
===Complications===
*Common complications of ADPKD 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" /><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><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><ref name="pmid2365280‎" /><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><ref name="pmid11134244‎">{{cite journal| author=Torres VE, Cai Y, Chen X, Wu GQ, Geng L, Cleghorn KA et al.| title=Vascular expression of polycystin-2. | journal=J Am Soc Nephrol | year= 2001 | volume= 12 | issue= 1 | pages= 1-9 | pmid=11134244‎ | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11134244 }} </ref><ref name="pmid11752048">{{cite journal| author=Pirson Y, Chauveau D, Torres V| title=Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. | journal=J Am Soc Nephrol | year= 2002 | volume= 13 | issue= 1 | pages= 269-76 | pmid=11752048 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11752048 }} </ref><ref name="pmid3419455">{{cite journal| author=Hossack KF, Leddy CL, Johnson AM, Schrier RW, Gabow PA| title=Echocardiographic findings in autosomal dominant polycystic kidney disease. | journal=N Engl J Med | year= 1988 | volume= 319 | issue= 14 | pages= 907-12 | pmid=3419455 | doi=10.1056/NEJM198810063191404 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3419455 }} </ref>
**[[Urinary tract infection|Urinary tract infections]]
**[[Pyelonephritis]]
**[[Cyst]] [[infection]]
**[[Nephrolithiasis]]
**[[Hepatic]] [[cyst]]
**[[Cyst]] [[hemorrhage]]
**[[Cyst]] [[torsion]]
**[[Intracranial aneurysms]]
**[[Thoracic aortic aneurysm|Thoracic aortic aneurysms]]
**[[Coronary artery aneurysm|Coronary artery aneurysms]]
**[[Mitral valve prolapse]]
**[[Diverticulosis]]
**[[End stage renal disease|End stage renal disease (ESRD)]]
 
* Common complications of ARPKD include:<ref name="pmid95870643">{{cite journal| author=Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G| title=Autosomal recessive polycystic kidney disease. | journal=J Mol Med (Berl) | year= 1998 | volume= 76 | issue= 5 | pages= 303-9 | pmid=9587064 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9587064  }}</ref><ref name="pmid167674053">{{cite journal| author=Sweeney WE, Avner ED| title=Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). | journal=Cell Tissue Res | year= 2006 | volume= 326 | issue= 3 | pages= 671-85 | pmid=16767405 | doi=10.1007/s00441-006-0226-0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16767405  }}</ref><ref name="pmid127280913">{{cite journal| author=Guay-Woodford LM, Desmond RA| title=Autosomal recessive polycystic kidney disease: the clinical experience in North America. | journal=Pediatrics | year= 2003 | volume= 111 | issue= 5 Pt 1 | pages= 1072-80 | pmid=12728091 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12728091  }}</ref>
** [[Congenital hepatic fibrosis]]
** [[Portal hypertension]]
** [[Pulmonary]] [[hypoplasia]]
** [[Chronic]] [[lung]] [[disease]]
** [[Biliary]] [[dysgenesis]]
** Recurrent [[ascending cholangitis]]
 
===Prognosis===
Autosomal dominant polycystic kidney disease (ADPKD):
*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>
*The [[aneurysms]] are usually asymptomatic and the mean age at rupture is at 39 years, 12 years younger than in the general population.<ref name="pmid17434405" />
*Significant [[diverticulosis]] can be seen in more than half of ADPKD patients especially those in [[ESRD]] on [[hemodialysis]].<ref name="pmid10695753‎">{{cite journal| author=Lederman ED, McCoy G, Conti DJ, Lee EC| title=Diverticulitis and polycystic kidney disease. | journal=Am Surg | year= 2000 | volume= 66 | issue= 2 | pages= 200-3 | pmid=10695753‎ | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10695753 }} </ref>
Autosomal recessive polycystic kidney disease (ARPKD):
* Half of ARPKD patients usually progress to [[ESRD]] by the age of 10.
* Other morbidities include [[growth retardation]], recurrent [[Urinary tract infection|UTIs]], and [[portal hypertension]] due to [[liver]] involvement.<ref name="pmid12728091">{{cite journal| author=Guay-Woodford LM, Desmond RA| title=Autosomal recessive polycystic kidney disease: the clinical experience in North America. | journal=Pediatrics | year= 2003 | volume= 111 | issue= 5 Pt 1 | pages= 1072-80 | pmid=12728091 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12728091  }}</ref>
* [[Mortality]] is still significantly elevated with around one-fourth of patients dying in the first year of life.
* The first month is usually the most critical period with a [[mortality rate]] of approximately 15%..<ref name="pmid127280912">{{cite journal| author=Guay-Woodford LM, Desmond RA| title=Autosomal recessive polycystic kidney disease: the clinical experience in North America. | journal=Pediatrics | year= 2003 | volume= 111 | issue= 5 Pt 1 | pages= 1072-80 | pmid=12728091 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12728091  }}</ref>
* A significant portion of these patients have varying degrees of [[pulmonary]] [[hypoplasia]] that is incompatible with life related to the massive intra-abdominal size of the [[kidneys]].<ref name="pmid167674052">{{cite journal| author=Sweeney WE, Avner ED| title=Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). | journal=Cell Tissue Res | year= 2006 | volume= 326 | issue= 3 | pages= 671-85 | pmid=16767405 | doi=10.1007/s00441-006-0226-0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16767405  }}</ref>
* Patients with mild [[pulmonary]] [[hypoplasia]] might develop [[chronic]] [[lung]] [[disease]] some of which require [[ventilation]] support.
* The prognosis improves in patients that survive the first few months of life.
* [[Portal hypertension]] secondary to [[hepatic fibrosis]] is often the major cause of [[mortality]] in these patients.<ref name="pmid95870642">{{cite journal| author=Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G| title=Autosomal recessive polycystic kidney disease. | journal=J Mol Med (Berl) | year= 1998 | volume= 76 | issue= 5 | pages= 303-9 | pmid=9587064 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9587064  }}</ref>
* Survival at 15 years ranges from 50 to 80%. Sixty percent of these patients will not require any [[renal replacement therapy]]. <ref name="pmid11477168">{{cite journal| author=Fonck C, Chauveau D, Gagnadoux MF, Pirson Y, Grünfeld JP| title=Autosomal recessive polycystic kidney disease in adulthood. | journal=Nephrol Dial Transplant | year= 2001 | volume= 16 | issue= 8 | pages= 1648-52 | pmid=11477168 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11477168  }}</ref>


==References==
==References==
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2], 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. Most cases of ARPKD present in the neonatal period with some disease findings detected on prenatal ultrasound. Most feared and common complication of ARPKD is pulmonary hypoplasia. Half of ARPKD patients usually progress to ESRD by age of 10. The prognosis of ARPKD improves in patients who survive the first few months of life. Survival at 15 years for patients of ARPKD ranges from 50% - 80%.

Natural History, Complications, and Prognosis

Natural History

Autosomal dominant polycystic kidney disease (ADPKD):

  • 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]

Autosomal recessive polycystic kidney disease (ARPKD):

  • Most affected individuals present in the neonatal period with some disease findings detected in prenatal obstetric ultrasounds.[5]
  • The most common initial findings in ARPKD patients involve abnormal renal structure and function.[6]
  • Approximately 30% of patients have no lab abnormalities at presentation.

Complications

Prognosis

Autosomal dominant polycystic kidney disease (ADPKD):

Autosomal recessive polycystic kidney disease (ARPKD):

References

  1. 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.
  2. Gabow PA (1990). "Autosomal dominant polycystic kidney disease--more than a renal disease". Am J Kidney Dis. 16 (5): 403–13. PMID 2239929.
  3. 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. 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.
  5. Sweeney WE, Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)". Cell Tissue Res. 326 (3): 671–85. doi:10.1007/s00441-006-0226-0. PMID 16767405.
  6. Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G (1998). "Autosomal recessive polycystic kidney disease". J Mol Med (Berl). 76 (5): 303–9. PMID 9587064.
  7. Schwab SJ, Bander SJ, Klahr S (1987). "Renal infection in autosomal dominant polycystic kidney disease". Am J Med. 82 (4): 714–8. PMID 3565428.
  8. 8.0 8.1 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).
  9. 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).
  10. 10.0 10.1 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.
  11. 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).
  12. 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.
  13. 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.
  14. Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G (1998). "Autosomal recessive polycystic kidney disease". J Mol Med (Berl). 76 (5): 303–9. PMID 9587064.
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