Prevalence and impact

ADPKD=autosomal dominant polycystic kidney disease.

How is ADPKD passed down in families?

Since ADPKD is an autosomal dominant disease, both males and females have an equal chance of inheriting ADPKD. The possibility of transmitting ADPKD from an affected parent to their children is 50%. If you inherit the disease-causing variants, you will have almost a 100% chance of developing ADPKD by the time you are 30 years old. The age of onset and rate at which the disease gets worse can vary in family members.

Autosomal dominant inheritance of ADPKD
  • 22 of 23 chromosome pairs are numbered and known as the autosomal chromosomes
  • Each pair of chromosomes contains 2 copies of a gene: one copy of a gene is passed down from your mother, and another copy is passed down from your father
  • A dominant variant is one in which a change in only 1 copy of a pair of genes is enough to cause disease. When someone is a carrier of a condition, they also have a variant in only 1 copy of a pair of genes, but they do not have disease
  • Genes for ADPKD (PKD1 and PKD2) are dominant so inheriting just 1 altered or mutated copy of the PKD1 or PKD2 gene from an affected parent is enough to inherit the disease

DNA=deoxyribonucleic acid; PKD1=polycystic kidney disease 1; PKD2=polycystic kidney disease 2.

ADPKD Family tree

Some signs and symptoms of ADPKD

Fluid-filled cysts in the kidneys

Fluid-filled cysts in
the kidneys

High blood pressure

High blood
pressure

Lower back and/or stomach pain

Lower back and/or
stomach pain

Urinary tract infection

Urinary tract
infection

Blood and/or increased protein<br>in the urine

Blood and/or
increased protein
in the urine

Patient talking with doctor
ADPKD can get
worse over time

If you have ADPKD, talk to your family members right away. Encourage them to get tested and talk to their doctor. Early diagnosis can make a difference in how the disease is treated.

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Find out about your own medical history.

You can learn a lot of information from genetic testing and talking with family members.

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