The following are the major diseases or complications that may be contributed to by ADPKD (Autosomal dominant polycystic kidney, ADPKD):
Cardiovascular system (I00-I99)
- Aortic aneurysm – wall bulge of the aorta.
- Arterial hypertension (high blood pressure) – in >80% of cases; onset: young adulthood.
- Heart valve changes such as mitral valve prolapse (systolic protrusion of the mitral valve leaflets) or mitral valve regurgitation (leakage of the mitral valve); mild aortic regurgitation (inadequate closure of the aortic valve of the heart).
- Cerebral aneurysms (wall bulging of cerebral vessels) – in four to six percent of cases; risk of aneurysm rupture with subarachnoid hemorrhage (SAB; hemorrhage between spider tissue membrane and brain surface)
Liver, gallbladder, and biliary tract-pancreas (pancreas) (K70-K77; K80-K87).
- Liver cysts – fluid-filled cavity in the liver (nearly 100% of cases).
- Pancreatic cysts – fluid-filled cavity in the pancreas (10% of cases).
Mouth, esophagus (food pipe), stomach, and intestines (K00-K67; K90-K93).
- Colonic diverticulosis
Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).
- Nephrolithiasis (kidney stones) – in 20-30% of cases.
- Recurrent infections of the cysts
- Terminal renal failure (permanent failure of renal function).
Terminal renal failure (permanent loss of kidney function) usually occurs in the following forms at the age listed below:
- Autosomal dominant polycystic kidney disease (ADPKD) – 50th-70th years of age.
- PKD1 mutation: 50th-60th year of life.
- PKD2 mutation: 70th-80th year of life.
- Autosomal recessive polycystic kidney disease (ARPKD) – 0-20th year of life.
- Medullary cystic kidney disease (MCKD) – 30-60 years of age.
- Nephronophthisis (NPH) – depending on the exact genetic defect until 21 years of age.
Prognostic factors
- Arterial hypertension (high blood pressure) before age 35 and/or from urologic complications (macrohematuria/blood in the urine, cyst infection, kidney stones)
- Development of albuminuria (appearance of albumin in the urine).
- Age-related high kidney volume
- Behavioral or modifiable risk factors:
- High intake of sodium chloride
- High consumption of coffee/tea
- Insufficient amount of drinking
- Inadequate blood pressure setting