Scholarship on July 8, 2022 by guest. Protected by copyright. http://bmjopen.bmj.com/ BMJ Open: first published as 10.1136/bmjopen-2020-038005 on 10 October 2020. Downloaded from Logeman C, et al. BMJ Open 2020;10:e038005. doi:10.1136/bmjopen-2020-038005 11 Open access (1114539) and the Royal Australasian College of Physicians (Jacquot NHMRC Award for Excellence). Competing interests GKR declares he is site investigator of clinical trials sponsored by Sanofi, Otsuka and Reata, principal investigator of the PREVENTADPKD clinical trial (funded in part by the NHMRC, Danone Nutricia—manufacturer of bottled water—PKD Australia, Westmead Medical Research Foundation) and Chair, Scientific Advisory Board, PKD Australia. RP declares he is site investigator of clinical trials sponsored by Sanofi, Kadmon, Reata, Otsuka and the US Department of Defense (TAME PKD), and section editor for Cystic Kidney Disease, UpToDate. Patient and public involvement Patients and/or the public were in Polycystic Kidney Disease The different types of PKD PKD is an inherited disease. This means it is passed from parents to their children. However not all people with PKD will have a family history. There are two different types of PKD: Autosomal Dominant PKD (ADPKD) This is the most common form of PKD. People with ADPKD will develop multiple fluid filled cysts in their kidneys, liver, pancreas and other organs. ADPKD is inherited from your parent. There is one in two chance of passing the faulty gene onto your children. Cysts can often be detected between the ages of 18-35 years. This affects both males and females equally and can sometimes lead to kidney failure later in life. Autosomal Recessive PKD (ARPKD) This is a much less common form of PKD. This is typically a childhood disease which is often diagnosed soon after birth. Both parents must have the faulty gene, with the risk of one in four chance of passing the gene onto each of their children. ARPKD can lead to kidney failure and/or liver problems later in life. Connect with us www.kidney.org.au Freecall 1800 454 363 Last Reviewed March 2019 Page 2 Kidney Health Australia Prevent, Detect, Support. Polycystic Kidney Disease Symptoms of Autosomal Dominant PKD If you have ADPKD you may have no symptoms in the early stages. The kidney cysts usually start forming in childhood but they are microscopic (and almost invisible to detect) and they grow very slowly so its takes many years before they can be detected by renal ultrasound. In those who show no symptoms, ADPKD can often be found accidentally while having scans or x-rays for other reasons, through screening those with a positive family history or having early signs of chronic kidney disease such as abnormal urine, high blood pressure or an abnormal kidney function blood test. Symptoms usually develop when someone is 30-40 years of age, but can be later in some people. Symptoms may include: • the need to pass urine more often (polyuria), sometimes during the night (nocturia) • pain in your back or side • blood in your urine (haematuria) • high blood pressure • reduced kidney function or kidney failure – about half of people with PKD will have kidney failure by 60 years of age, but can be considerably later in some people • enlarged and painful abdomen (belly area) • urinary tract infections • kidney stones • hernias • cysts in other organs, most commonly in the liver • abnormal heart valves • intracranial aneurysm (weakened spot in the blood vessels of the brain) Symptoms of Autosomal Recessive PKD If you have ARPKD the cysts can develop in the early months of life or even before birth. Children with ARPKD may have reduced kidney function, which may lead to end stage kidney disease, or liver problems. Symptoms and signs of ARPKD in severely affected babies include: • reduced fluid surrounding the baby in the uterus which can lead to the baby having an unusually shaped face • delayed or difficult childbirth • high blood pressure • swelling of the abdomen (belly area) due to enlarged kidneys, liver and spleen • heart and lung defects • kidney failure at birth or in the first few weeks of life Other complications may include: • failure to thrive – below average growth and weight gain as a baby • increased blood pressure in the liver • blood in the urine • high blood pressure • anaemia - low red blood cells How is PKD diagnosed? The severe symptoms of ARPKD usually means the condition is diagnosed early. But in less severe PKD, health problems may not be seen for many years. It is often found during medical checks for other problems, such as urinary tract infections or kidney stones. Sometimes it isn’t found until high blood pressure or kidney failure develops. Diagnosing PKD usually considers age, having a positive family history of PKD combined with an ultrasound. To be diagnosed with PKD, there must be a certain number of cysts shown on the ultrasound. Further testing may then be performed, including: Physical examination - used to look for high blood pressure or enlarged kidneys. Blood tests - used to measure your kidney function. Urine tests - used to look for blood and/or protein in your urine. Ultrasound Blood test Urine Test Connect with us www.kidney.org.au Freecall 1800 454 363 Last Reviewed March 2019 Page 3 Kidney Health Australia Prevent, Detect,