Polycystic kidney disease

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Recursos 

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Última revisión: 1 Feb 2026

Última actualización: 10 Jan 2025

Polycystic kidney disease (PKD) is an inherited renal cystic disease, of which autosomal-dominant polycystic kidney disease is the more common form.

Characterized by renal cysts, extrarenal cysts, intracranial aneurysms, aortic root dilation and aneurysms, mitral valve prolapse, and abdominal wall hernias.

Interfamilial and intrafamilial variability is explained to a large extent by its genetic heterogeneity and modifier genes.

Long-term complications include hypertension; increased cardiovascular morbidity and mortality; chronic kidney disease; intracranial, coronary, thoracic, and abdominal aneurysms; liver and pancreatic cysts; and end-stage renal disease.

Efforts to slow the progression of the disease and delay the need for renal replacement therapy are being investigated, and in some countries therapies that slow kidney and severe liver disease are available for use.

Definición

PKD is part of a heterogeneous group of disorders characterized by renal cysts and numerous systemic and extrarenal manifestations.[1] There are 2 types: autosomal-dominant PKD (ADPKD) and autosomal-recessive PKD (ARPKD). This topic concentrates on ADPKD, the more common form.

Anamnesis y examen

Principales factores de diagnóstico

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

Todos los datos

Otros factores de diagnóstico

cardiac murmur
abdominal hernia
hepatomegaly
chest pain

Todos los datos

Factores de riesgo

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

Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

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

Todos los datos

Pruebas diagnósticas que deben considerarse

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

Todos los datos

Algoritmo de tratamiento

Agudo

confirmed autosomal-dominant polycystic disease

En curso

end-stage renal disease

Colaboradores

Autores

Marie C. Hogan, MD, PhD

Consultant

Division of Nephrology

Professor of Medicine

College of Medicine

Mayo Clinic

Rochester

Divulgaciones

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

Divulgaciones

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

Agradecimientos

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.

Revisores por pares

Richard Sandford, PhD, FRCP

Wellcome Trust Senior Fellow in Clinical Research

University Reader in Real Genetics

Honorary Consultant in Medical Genetics

Cambridge

Divulgaciones

RS declares that he has no competing interests.

Arlene Chapman, MD

Professor of Medicine

Renal Division

Emory University

School of Medicine

Atlanta

Divulgaciones

Not disclosed.

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Referencias

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Artículos principales

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

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

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.Texto completo Resumen

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.Texto completo Resumen

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. Resumen

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. Resumen

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.

Differentials
- Acquired cystic kidney disease
- Simple cyst
- Tuberous sclerosis complex
Más Diferenciales
Guidelines
- Autosomal-dominant polycystic kidney disease (ADPKD): executive summary
Más Guidelines
Patient information
Kidney infection
Kidney stones
More Patient information
Calculators
Glomerular Filtration Rate Estimate by the IDMS-Traceable MDRD Study Equation
More Calculators
Videos
Diagnostic lumbar puncture in adults: animated demonstration
More videos
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Polycystic kidney disease

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

Otros factores de diagnóstico

Factores de riesgo

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

Pruebas diagnósticas que deben considerarse

Algoritmo de tratamiento

confirmed autosomal-dominant polycystic disease

end-stage renal disease

Colaboradores

Autores

Marie C. Hogan, MD, PhD

Divulgaciones

Maria Irazabel Mira, MD, PhD

Divulgaciones

Agradecimientos

Revisores por pares

Richard Sandford, PhD, FRCP

Divulgaciones

Arlene Chapman, MD

Divulgaciones

Agradecimiento de los revisores por pares

Divulgaciones

Referencias

Artículos principales

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.

Differentials

Guidelines

Patient information

Calculators

Videos

Log in or subscribe to access all of BMJ Best Practice

Log in or subscribe to access all of BMJ Best Practice

Log in to access all of BMJ Best Practice