[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Conditions](https://durgical.com/en/conditions/) › Autosomal dominant polycystic kidney disease [Conditions](https://durgical.com/en/conditions/) · [Abdomen](https://durgical.com/en/anatomy/region/abdomen/) # Autosomal dominant polycystic kidney disease Polycystic kidney disease is an inherited disorder in which many fluid-filled cysts grow in both kidneys, often leading to kidney failure in adulthood. Updated 2026-10-30 ## Structures involved Tap one to see what it is and open it in 3D. - [Kidneys](https://durgical.com/en/anatomy/kidney/) - [Renal pelvis](https://durgical.com/en/anatomy/renal-pelvis/) - [Liver](https://durgical.com/en/anatomy/liver/) - [Vessels inside the kidney](https://durgical.com/en/anatomy/intrarenal-arteries-and-veins/) - [Ureters](https://durgical.com/en/anatomy/ureter/) - [Pancreas](https://durgical.com/en/anatomy/pancreas/) ## In biochemistry - [Creatinine and estimated glomerular filtration rate (eGFR)](https://durgical.com/en/biochemistry/topics/creatinine-and-estimated-glomerular-filtration-rate/) ## In histology - [Cilia, microvilli and stereocilia](https://durgical.com/en/histology/cilia-microvilli-and-stereocilia/) - [Kidney: cortex, medulla and the nephron](https://durgical.com/en/histology/kidney-cortex-medulla-and-the-nephron/) ## In embryology - [Multicystic dysplastic kidney and polycystic kidney disease](https://durgical.com/en/embryology/multicystic-dysplastic-kidney-and-polycystic-kidney-disease/) ## In the clinical exam - [Kidney palpation: bimanual palpation and ballottement](https://durgical.com/en/clinical-exam/kidney-palpation-bimanual-palpation-and-ballottement/) - [Uremic syndrome and the signs of chronic kidney disease](https://durgical.com/en/clinical-exam/uremic-syndrome-and-the-signs-of-chronic-kidney-disease/) ## In physiology - [Functional anatomy of the nephron](https://durgical.com/en/physiology/functional-anatomy-of-the-nephron/) ## Why it happens - [Mendelian inheritance: autosomal dominant, recessive and X-linked](https://durgical.com/en/general-pathology/mendelian-inheritance-autosomal-dominant-recessive-and-x-linked/) - [How a single gene causes disease: enzymes, receptors and structural proteins](https://durgical.com/en/general-pathology/how-a-single-gene-causes-disease-enzymes-receptors-and-structural-proteins/) ## What it is Inherited disorder in which many fluid-filled cysts grow in both kidneys and enlarge them, gradually replacing normal tissue and often leading to kidney failure in adult life. ## Who gets it The most common inherited kidney disease and an important cause of kidney failure worldwide, in all ethnic groups. Symptoms usually start in adulthood, although cysts can be seen earlier. Colombia's national CKD registry counted 3,339 patients with ADPKD in 2015–2019, a period prevalence of 9.81 per 100,000, lower than reported in Europe and the US. ## Causes - Mutation in PKD1 (chromosome 16, polycystin-1): most cases, with earlier and more severe disease - Mutation in PKD2 (chromosome 4, polycystin-2): milder disease and later kidney failure - Autosomal dominant inheritance: each child of an affected parent has a 50% chance; some cases are new mutations ## Risk factors - Family history of the disease - PKD1 mutation, especially truncating variants (faster progression) - Large total kidney volume for age - Early hypertension and early urological events (haematuria, infections) - Male sex (faster progression) ## Pathophysiology Faulty polycystins in the primary cilia of tubular cells disturb calcium signalling and raise cyclic AMP, which drives cell growth and fluid secretion into cysts. Cysts expand over decades, compress normal nephrons and activate the renin–angiotensin system, causing hypertension. GFR often stays normal until the kidneys are greatly enlarged, then declines. ## Classification - By gene: PKD1 or PKD2 (genetic testing is not always needed) - Mayo imaging classes (1A to 1E): height-adjusted total kidney volume for age predicts the rate of progression ## Symptoms and signs - Flank or back pain from cyst growth, bleeding or infection - Visible haematuria (cyst rupture) - Hypertension, often early and before GFR falls - Enlarged, palpable kidneys and abdominal fullness - Kidney stones and urinary tract infections - Nocturia from a reduced ability to concentrate urine ## Red flags - Sudden, severe (thunderclap) headache: possible ruptured intracranial berry aneurysm - Fever with flank pain: infected cyst - Rapid rise in creatinine - Heavy or persistent haematuria ## Diagnosis **Clinical** Suspected with a family history, enlarged [kidneys](https://durgical.com/en/anatomy/kidney/), early hypertension or haematuria. In people with a family history, age-based ultrasound criteria for the number of cysts confirm or exclude it. **Tests** Creatinine and eGFR, urinalysis and urine albumin. Genetic testing for PKD1 and PKD2 when imaging is equivocal, there is no family history, or a relative is being assessed as a living kidney donor. **Imaging** Ultrasound shows many bilateral cysts, enlarged kidneys and often [liver](https://durgical.com/en/anatomy/liver/) cysts. MRI or CT measures total kidney volume to predict progression. MR angiography screens for intracranial aneurysms in those with a family history of aneurysm or subarachnoid haemorrhage. ## Differential diagnosis - Simple kidney cysts (common with age) - Autosomal recessive polycystic kidney disease (infants and children) - Acquired cystic kidney disease in long-term dialysis - Tuberous sclerosis or von Hippel–Lindau disease - Medullary sponge kidney ## Goal of treatment Control blood pressure and complications, slow cyst growth and loss of function in those at risk of rapid progression, and plan kidney replacement therapy in time. ## Treatment **Medical** Strict blood pressure control, usually with an ACE inhibitor or angiotensin receptor blocker. **Medical** A vasopressin V2 receptor antagonist can slow kidney growth and GFR decline in adults at risk of rapid progression; liver tests are monitored. **Lifestyle** Generous water intake, a low-salt diet, a healthy weight and avoiding NSAIDs. **Medical** Treatment of complications: pain control, antibiotics that penetrate cysts for infected cysts, and management of stones. **Procedure** Cyst aspiration and sclerosis for some large painful cysts; dialysis in kidney failure. **Surgical** Kidney transplantation; nephrectomy when the kidneys are too large for the graft or cause repeated problems. ## Drugs for this condition - [Tolvaptan](https://durgical.com/en/pharmacology/tolvaptan/) ## Complications - Kidney failure, often in middle age - Intracranial berry aneurysm with subarachnoid haemorrhage - Polycystic liver disease - Cyst infection, cyst haemorrhage and kidney stones - Mitral valve prolapse - Colonic diverticula and abdominal wall hernias ## Prognosis Progression varies widely. Many people with PKD1 mutations reach kidney failure in mid-adult life, while PKD2 disease is milder; blood pressure control and targeted treatment can slow the decline. ## Prevention - Family screening and genetic counselling - Early detection and control of hypertension - Aneurysm screening for people at higher risk ## Test yourself Think of the answer, then tap the question to see it. ## Which two genes cause autosomal dominant polycystic kidney disease, and which causes more severe disease? PKD1 (polycystin-1) and PKD2 (polycystin-2); PKD1 causes earlier and more severe disease. ## Which intracranial lesion is associated with ADPKD? Berry (saccular) aneurysms, which can rupture and cause subarachnoid haemorrhage. ## Which organ outside the kidney most often has cysts in ADPKD? The liver (polycystic liver disease). ## Which drug class can slow kidney growth in rapidly progressive ADPKD? Vasopressin V2 receptor antagonists. ## What is the first-line imaging test to diagnose ADPKD in an adult at risk? Kidney ultrasound, read with age-based criteria for the number of cysts. [Add to my cards (5)](https://durgical.app/estudiar/?add=/en/conditions/autosomal-dominant-polycystic-kidney-disease/) ## Related conditions - [Chronic kidney disease](https://durgical.com/en/conditions/chronic-kidney-disease/) - [Arterial hypertension](https://durgical.com/en/conditions/arterial-hypertension/) - [Subarachnoid haemorrhage](https://durgical.com/en/conditions/subarachnoid-haemorrhage/) - [Kidney stones (urolithiasis)](https://durgical.com/en/conditions/kidney-stones/) - [Acute pyelonephritis](https://durgical.com/en/conditions/acute-pyelonephritis/) - [Diverticular disease and diverticulitis](https://durgical.com/en/conditions/diverticular-disease-and-diverticulitis/) Educational information, not medical advice. For any symptom, see a health professional. Sources: [Autosomal Dominant Polycystic Kidney Disease](https://www.ncbi.nlm.nih.gov/books/NBK532934/) (StatPearls (NCBI Bookshelf), 2024); [Autosomal dominant polycystic kidney disease in Colombia](https://europepmc.org/article/PMC/PMC10353080) (BMC nephrology, 2023) · adapted, [CC BY 4.0](https://creativecommons.org/licenses/by/4.0/). [← All conditions](https://durgical.com/en/conditions/) ## **Spotted a mistake?** We are always improving for the community. Tell us what is wrong and our team will review it. Report a mistake Representative model, for educational purposes only. --- Source: https://durgical.com/en/conditions/autosomal-dominant-polycystic-kidney-disease/ License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/autosomal-dominant-polycystic-kidney-disease/