[MIM 173 900, 600 666, 613 095]

(former name: adult polycystic disease)

Prevalence estimated at 1/1.000-1/2.500: it is the most common hereditary kidney diseases. The majority of cases (known as PKD1) are due to a mutation in the PKD1 gene (16p13) coding for polycystin 1; others are due to a mutation:

• for PKD2: PKD2 gene (4q22) codingfor polycystin 2 (better prognosis) [MIM 613 095]
• for PKD3: ganAB gene (11q13) [MIM 600 666]
• for PKD4: PKHD1 gene (6p12) [MIM 263 200]
• for PKD5: DZIP1L gene (3q22.3) [MIM 617 570]
• for PKD6: dnaJB11 (3q27) [MIM 618 061]

Cysts develop in a small percentage of nephrons from any part of the renal tubule. Radiological diagnostic criteria (so-called Ravine criteria) are: at least 2 cysts (on one kidney or a cyst in each kidney), patient under 30 years old / / 2 cysts in each kidney between 30 and 50 years old / / 4 cysts in each kidney over 59 years.

Usual form: the first symptoms appear between 30 and 40 years of age; only 20-40 % of patients progress to end-stage renal disease (dialysis).

Rare:  neonatal form with oligohydramnios, large kidneys and pulmonary hypoplasia (Potter syndrome).

In childhood: often asymptomatic; sometimes high blood pressure,  micro- or macroscopic hematuria, proteinuria, urinary infections, urolithiasis.

In adults:

-        intracranial aneurysms: 40 %  of the cases in case of PKD1 mutation: screening is recommended from the age of 15 years

-        mitral valve prolapse: 20-30 %

-        aortic  or cervical arteries aneurysm

Non-consistant and late hepatic involvement in 70 % of patients over the age of 60 years; occasionally associated with pancreatic cysts.

Anesthetic implications:

treatment of arterial hypertension; check renal function and electrolytes; avoid attacks of hypertension (cerebral aneurysm ?)

References : 

• Bonsib SM. 
  The classification of renal cystic diseases and other congenital malformations of the kidney and urinary tract. 
  Arch Pathol Lab Med 2010; 134:554-68.
• Avni F. 
  Renal cystic diseases in children : new concepts. 
  Pediatr Radiol 2010; 40: 939-46
• Brochard K, Decramer S. 
  Reins kystiques de l’enfant. 
  Néphrologie et Thérapeutique 2010 ; 6 : 272-9.

Updated: May 2021