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Doença renal policística

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Last reviewed: 12 Jul 2025
Last updated: 10 Jan 2025

Summary

Definition

History and exam

Key diagnostic factors

  • história familiar de DRP autossômica dominante (DRPAD) ou doença renal em estágio terminal
  • história familiar de evento cerebrovascular.
  • cistos renais
  • hipertensão
  • dor abdominal/nos flancos
  • hematúria
  • massa abdominal/renal palpável
  • cefaleias
  • disúria, dor suprapúbica, febre
Full details

Other diagnostic factors

  • sopro cardíaco
  • hérnia abdominal
  • hepatomegalia
  • dor torácica
Full details

Risk factors

  • história familiar de DRP autossômica dominante (DRPAD)
  • história familiar de evento cerebrovascular.
Full details

Diagnostic investigations

1st investigations to order

  • ultrassonografia renal
  • tomografia computadorizada (TC) de abdome/pelve
  • RNM de abdome/pelve
  • urinálise/cultura de urina e coloração de Gram
  • eletrólitos séricos, ureia e creatinina
  • perfil lipídico em jejum
  • eletrocardiograma (ECG)
  • TC cranioencefálica
Full details

Investigations to consider

  • teste genético
  • ecocardiograma
  • urina de 24 horas
  • TC de dupla energia do abdome/pelve
  • punção lombar e análise do líquido cefalorraquidiano
  • proteína C-reativa
  • tomografia por emissão de pósitrons (PET)
Full details

Treatment algorithm

ACUTE

doença policística autossômica dominante confirmada

ONGOING

doença renal em estágio terminal

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

Disclosures

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

Acknowledgements

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.

Peer reviewers

Richard Sandford, PhD, FRCP

Wellcome Trust Senior Fellow in Clinical Research

University Reader in Real Genetics

Honorary Consultant in Medical Genetics

Cambridge

UK

Disclosures

RS declares that he has no competing interests.

Arlene Chapman, MD

Professor of Medicine

Renal Division

Emory University

School of Medicine

Atlanta

GA

Disclosures

Not disclosed.

References

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.

Key articles

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

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

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

Reference articles

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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