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Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Inherited Cystic Kidney Disease

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

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What is Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

ADPKD is an autosomal dominant disorder caused by mutations in PKD1 (85%) or PKD2 (15%) genes encoding polycystin proteins.

Progressive bilateral renal cyst formation enlarges total kidney volume and leads to gradual decline in GFR, with approximately 50% reaching ESKD by age 60.

Extrarenal manifestations include hepatic cysts, intracranial aneurysms, mitral valve prolapse, and diverticular disease.

Mayo imaging classification and Predicting Renal Outcomes in ADPKD (PROPKD) score stratify progression risk.

Symptoms

Flank or back pain from cyst enlargement or rupture
Gross hematuria from cyst hemorrhage
Hypertension, often before significant GFR decline
Recurrent urinary tract infections or pyelocystitis
Nephrolithiasis and abdominal distension from hepatomegaly
Family history of kidney disease or intracranial aneurysm

Risk Factors

Affected parent with 50% transmission risk per child
PKD1 truncating mutations (more severe phenotype)
Male sex, African ancestry, and early hypertension
Hematuria, UTIs, or large kidney volume on imaging
Smoking and obesity
Family history of intracranial hemorrhage

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Sudden severe headache (concern for aneurysm rupture)
  • Gross hematuria, flank pain, or fever suggesting cyst complication
  • Progressive decline in GFR or resistant hypertension

Treatment Methods

01
Blood pressure control (<130/80 mmHg) with ACEi or ARB as first-line
02
Tolvaptan (V2 receptor antagonist) for rapid progressors; monitor liver function
03
Hydration (2.5-3 L/day in absence of ESKD) to suppress vasopressin
04
Treat UTIs aggressively with cyst-penetrating antibiotics (fluoroquinolones, TMP-SMX)
05
MRA screening for intracranial aneurysm if family history or high-risk occupation
06
Lifestyle: sodium restriction, avoid nephrotoxins, smoking cessation; renal replacement planning

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Dahiliye (İç Hastalıkları) Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.