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Polycystic kidney disease

Última revisión: 13 Sep 2025
Última actualización: 10 Jan 2025

Resumen

Definition

History and exam

Key diagnostic factors

  • family history of autosomal-dominant PKD (ADPKD) or end-stage renal disease
  • family history of cerebrovascular event
  • renal cysts
  • hypertension
  • abdominal/flank pain
  • hematuria
  • palpable kidneys/abdominal mass
  • headaches
  • dysuria, suprapubic pain, fever
Full details

Other diagnostic factors

  • cardiac murmur
  • abdominal hernia
  • hepatomegaly
  • chest pain
Full details

Risk factors

  • family history of autosomal-dominant PKD (ADPKD)
  • family history of cerebrovascular event
Full details

Diagnostic tests

1st tests to order

  • renal ultrasound
  • CT abdomen/pelvis
  • MRI abdomen/pelvis
  • urinalysis/Gram stain and urine culture
  • serum electrolytes, BUN, creatinine
  • fasting lipid profile
  • ECG
  • CT brain
Full details

Tests to consider

  • genetic testing
  • echocardiogram
  • 24-hour urine collection
  • dual-energy CT of abdomen/pelvis
  • lumbar puncture and cerebrospinal fluid analysis
  • C-reactive protein
  • PET scan
Full details

Treatment algorithm

ACUTE

confirmed autosomal-dominant polycystic disease

ONGOING

end-stage renal disease

Contributors

Authors

Marie C. Hogan, MD, PhD

Consultant

Division of Nephrology

Professor of Medicine

College of Medicine

Mayo Clinic

Rochester

MN

Disclosures

MCH receives research funding from Novartis, and was an investigator participating in tolvaptan clinical trials. MCH is also an author of several references cited in this topic.

Maria Irazabel Mira, MD, PhD

Associate Professor of Medicine, Associate Consultant

Division of Nephrology and Hypertension

Department of Internal Medicine

Mayo Clinic

Rochester

MN

Раскрытие информации

MIM is an author of several references cited in this topic.

Выражение благодарностей

Dr Marie C Hogan and Dr Maria Irazabal Mira would like to gratefully acknowledge Dr Vicente Torres, a previous contributor to this topic.

Disclosures: VT is an author of several references cited in this topic.

Рецензенты

Richard Sandford, PhD, FRCP

Wellcome Trust Senior Fellow in Clinical Research

University Reader in Real Genetics

Honorary Consultant in Medical Genetics

Cambridge

UK

Раскрытие информации

RS declares that he has no competing interests.

Arlene Chapman, MD

Professor of Medicine

Renal Division

Emory University

School of Medicine

Atlanta

GA

Раскрытие информации

Not disclosed.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Список литературы

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Основные статьи

Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers. 2018 Dec 6;4(1):50.Полный текст  Аннотация

Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019 Mar 2;393(10174):919-35. Аннотация

Pei Y, Obaji J, Dupuis A, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009 Jan;20(1):205-12.Полный текст  Аннотация

Torres VE, Chapman AB, Devuyst O, et al; TEMPO 3:4 Trial Investigators. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012 Dec 20;367(25):2407-18.Полный текст  Аннотация

Schrier RW, Abebe KZ, Perrone RD, et al; HALT-PKD Trial Investigators. Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med. 2014 Dec 11;371(24):2255-66. Аннотация

Torres VE, Abebe KZ, Chapman AB, et al; HALT-PKD Trial Investigators. Angiotensin blockade in late autosomal dominant polycystic kidney disease. N Engl J Med. 2014 Dec 11;371(24):2267-76. Аннотация

Статьи, указанные как источники

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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