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ADPKD — Autosomal Dominant Polycystic Kidney Disease

Adult-onset polycystic kidney disease caused by PKD1 or PKD2 gene mutations.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is ADPKD — Autosomal Dominant Polycystic Kidney Disease?

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, caused by mutations in PKD1 (78%) or PKD2 (15%) that lead to hundreds of cysts in both kidneys. Prevalence is about 1:800–1000 and it is the fourth commonest cause of chronic kidney disease.

PKD1 mutations progress to end-stage kidney disease earlier than PKD2 (mean 55 vs 75 years). Cysts arise from glomerular structures, grow from birth and become symptomatic in adulthood. Extra-renal cysts (liver, pancreas) and intracranial aneurysms also occur.

Diagnosis relies on a family history plus ultrasound finding of at least three cysts (unilateral or bilateral) between ages 15 and 39, or on genetic testing. Tolvaptan is the first approved disease-slowing drug. Uncontrolled hypertension and ruptured intracranial aneurysm are the most serious complications.

Symptoms

Flank and back pain
Haematuria (gross or microscopic)
Recurrent urinary tract infections
Early hypertension
Kidney stones
Abdominal distension in advanced disease
Right-upper-quadrant pain from hepatic cysts
Features of progressive kidney failure

Risk Factors

PKD1 or PKD2 gene mutation
Autosomal dominant inheritance
Positive family history in 95%
PKD1 mutation type (more severe)
Male sex (faster progression)
Early-onset hypertension
High sodium intake
Smoking

When to See a Doctor?

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

  • Screen at age 18 if ADPKD runs in the family
  • For flank pain and haematuria
  • For resistant hypertension
  • For severe headache (suspected aneurysm rupture)
  • For recurrent kidney infection
  • For pregnancy planning and genetic counselling

Treatment Methods

01
Tolvaptan (V2 receptor antagonist) — first disease-modifying drug
02
Strict blood-pressure control (ACE inhibitor/ARB)
03
High fluid intake (2.5–3 L/day)
04
Low-sodium, low-protein diet
05
Pain management (avoid NSAIDs)
06
Lipophilic antibiotics for infection
07
Screening for intracranial aneurysm if family history
08
Dialysis or transplantation in end-stage disease

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.

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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.