Cystic Kidney Disease

Cystic kidney disease (polycystic kidney disease; ICD-10 Q61.-: cystic kidney disease) is a kidney disease characterized by the presence of many cysts (fluid-filled cavities).

The following forms can be distinguished:

  • Autosomal dominant polycystic kidney disease (ADPKD; autosomal dominant polycystic kidney disease).
  • Autosomal recessive polycystic kidney disease (ARPKD; autosomal recessive polycystic kidney disease).
  • Bardet-Biedl syndrome (BBS; synonym: Laurence-Moon-Biedl-Bardet syndrome, LMBBS) – an autosomal recessive inherited gene mutation.
  • Medullary cystic kidney disease (MCKD).
  • Nephronophthisis (NPH) – autosomal recessive form of tubulointerstitial nephritis; consequence of the disease are cystic kidneys at the corticomedullary border of the kidneys.
  • Orofascial digital syndrome with polycystic kidneys (OFD) – X-linked inheritance.
  • Rare polycystic kidney disease.
  • Other cystic kidney disease with autosomal dominant inheritance such as Von Hippel-Lindau syndrome or tuberous sclerosis.
  • Cystic kidney disease with unknown mode of inheritance.

Peak incidence: usually ADPKD begins between the ages of 30 and 50.

The prevalence (disease incidence) of ADPKD is < 1: 2,000 (Europe).

The incidence (frequency of new cases) of autosomal dominant polycystic kidney disease (ADPKD) is approximately 1:500-1:1,000 population per year. Approximately five million people worldwide are affected. The incidence of ADPKD is 1: 500 to 1: 1 000 population per year.The incidence of ARPKD is 1: 20,000 population per year. The incidence of NPH is 1: 10,000 population per year. The incidence of MCKD is < 1: 10,000 population per year.

Course and prognosis: Polycystic kidney disease has no cure to date. More than 50% of patients with autosomal-dominant inherited polycystic kidney disease (ADPKD) reach the stage of needing dialysis by the age of 60. However, there are large individual differences in the risk of progression of renal failure (chronic renal impairment; process leading to a slowly progressive reduction in kidney function) to the need for dialysis.

Comorbidities (concomitant disease): in ADPKD, liver cysts are often found in addition to renal cysts (in >90% of patients older than 35 years).