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{{Polycystic kidney disease}}
{{Polycystic kidney disease}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{MKA}}


==Overview==
==Overview==
Definitive diagnosis using genetic testing is only possible in around half of the patients with a clinical diagnosis of ADPKD. Given the cost and low sensitivity, genetic testing is reserved for specific cases and is not a preferred method of diagnosis.
[[Dialysis]] is not the first-line treatment option for patients with polycystic kidney disease. [[Dialysis]] is usually reserved for patients with either [[End stage renal disease|end stage renal disease (ESRD)]] or [[renal failure]].


==Genetic Testing==
==Indications==
Although both causative gene loci for ADPKD have been defined, genetic diagnosis is not the preferred modality due to its elevated cost and low sensitivity. Despite being feasible, the various type of mutations including frame insertions/deletions, non-canonical splice site alterations, or combined missense changes often make the identification of pathogenic mutations very complex. Futhermore, definitive disease-causing mutations are usually detected in only 41 to 63% of cases approximately. <ref name="pmid17574468">{{cite journal| author=Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK et al.| title=Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. | journal=Mol Genet Metab | year= 2007 | volume= 92 | issue= 1-2 | pages= 160-7 | pmid=17574468 | doi=10.1016/j.ymgme.2007.05.004 | pmc=PMC2085355 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17574468  }} </ref><ref name="pmid17582161">{{cite journal| author=Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ et al.| title=Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. | journal=J Am Soc Nephrol | year= 2007 | volume= 18 | issue= 7 | pages= 2143-60 | pmid=17582161 | doi=10.1681/ASN.2006121387 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17582161  }} </ref>
[[Dialysis]] is not the first-line treatment option for patients with polycystic kidney disease. [[Dialysis]] is usually reserved for patients with either:<ref name="pmid18832246">{{cite journal |vauthors=Grantham JJ |title=Clinical practice. Autosomal dominant polycystic kidney disease |journal=N. Engl. J. Med. |volume=359 |issue=14 |pages=1477–85 |date=October 2008 |pmid=18832246 |doi=10.1056/NEJMcp0804458 |url=}}</ref>
*[[End stage renal disease|End stage renal disease (ESRD)]]
*[[Renal failure]]


==Dialysis==
*[[Dialysis]] is the mainstay of treatment for [[ESRD]] and [[renal failure]] in patients with polycystic kidney disease<ref name="pmid9044324">{{cite journal |vauthors=Pirson Y, Christophe JL, Goffin E |title=Outcome of renal replacement therapy in autosomal dominant polycystic kidney disease |journal=Nephrol. Dial. Transplant. |volume=11 Suppl 6 |issue= |pages=24–8 |date=1996 |pmid=9044324 |doi= |url=}}</ref>
*[[Peritoneal dialysis]] may have a survival benefit over [[hemodialysis]]<ref name="pmid11924752">{{cite journal |vauthors=Abbott KC, Agodoa LY |title=Polycystic kidney disease at end-stage renal disease in the United States: patient characteristics and survival |journal=Clin. Nephrol. |volume=57 |issue=3 |pages=208–14 |date=March 2002 |pmid=11924752 |doi= |url=}}</ref>
*[[Hemodialysis]] is the preferred modality for [[Renal replacement therapy|renal replacement]] in patients with polycystic kidney disease<ref name="pmid9044324">{{cite journal |vauthors=Pirson Y, Christophe JL, Goffin E |title=Outcome of renal replacement therapy in autosomal dominant polycystic kidney disease |journal=Nephrol. Dial. Transplant. |volume=11 Suppl 6 |issue= |pages=24–8 |date=1996 |pmid=9044324 |doi= |url=}}</ref>
==Contraindications==
*[[Peritoneal dialysis]] is not preferred in patients with [[PKD]], because of the lack of ability to acoomodate large volume of [[peritoneal]] [[fluid]]<ref name="pmid10695753">{{cite journal |vauthors=Lederman ED, McCoy G, Conti DJ, Lee EC |title=Diverticulitis and polycystic kidney disease |journal=Am Surg |volume=66 |issue=2 |pages=200–3 |date=February 2000 |pmid=10695753 |doi= |url=}}</ref>
*[[Peritoneal dialysis]] is also avoided in patients with [[aortic]] [[aneurysms]]
*[[Anticoagulants]] required for [[hemodialysis]] should be used with caution due to pre existing [[hematuria]]
==References==
==References==
{{reflist|2}}
{{Reflist|2}}


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[[Category:Up-To-Date]]
[[Category:Medicine]]
[[Category:Nephrology]]

Latest revision as of 23:46, 29 July 2020

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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]

Overview

Dialysis is not the first-line treatment option for patients with polycystic kidney disease. Dialysis is usually reserved for patients with either end stage renal disease (ESRD) or renal failure.

Indications

Dialysis is not the first-line treatment option for patients with polycystic kidney disease. Dialysis is usually reserved for patients with either:[1]

Dialysis

Contraindications

References

  1. Grantham JJ (October 2008). "Clinical practice. Autosomal dominant polycystic kidney disease". N. Engl. J. Med. 359 (14): 1477–85. doi:10.1056/NEJMcp0804458. PMID 18832246.
  2. 2.0 2.1 Pirson Y, Christophe JL, Goffin E (1996). "Outcome of renal replacement therapy in autosomal dominant polycystic kidney disease". Nephrol. Dial. Transplant. 11 Suppl 6: 24–8. PMID 9044324.
  3. Abbott KC, Agodoa LY (March 2002). "Polycystic kidney disease at end-stage renal disease in the United States: patient characteristics and survival". Clin. Nephrol. 57 (3): 208–14. PMID 11924752.
  4. Lederman ED, McCoy G, Conti DJ, Lee EC (February 2000). "Diverticulitis and polycystic kidney disease". Am Surg. 66 (2): 200–3. PMID 10695753.

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