About ADPedKD

About ADPKD and ADPedKD

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic cause of kidney failure, affecting more than 1 in 400 to 1000 live births and approximately 13 million individuals worldwide, representing a major socio-economic medical problem in the world. ADPKD arises as a consequence of mutations in the PKD1 gene, accounting for 85% of cases, or PKD2 gene, accounting for 15% of cases, encoding the proteins polycystin-1 (PC1) and -2 (PC2), respectively. Recently, mutations in GANAB have been identified in a small subgroup of patients. Patients with PKD2 mutations have a milder phenotype and reach end-stage renal disease (ESRD) approximately 20 years later than those with PKD1 mutations. ADPKD is characterized by the progressive development and enlargement of cysts in all nephron segments, ultimately leading to ESRD in 50% of patients by the age of 60 years. Moreover, ADPKD, as a bona fide ciliopathy, is a systemic disorder, associated with cyst formation in other organs, mostly in the liver; cardiovascular anomalies such as intracranial arterial aneurysms and cardiac valvular defects; abdominal and inguinal hernias and colonic diverticulosis.

Currently, there is no definitive curative treatment. As cyst formation begins early in life, frequently in utero, ADPKD should no longer be considered as a purely adult-onset disease. Moreover, 2-5% of ADPKD patients present in childhood, with a broad phenotypic spectrum. Children diagnosed with ADPKD have proteinuria in up to 35% of cases, hypertension before a renal function decline in up to 44% and more than half have urinary concentrating defects. Although the lack of a consensus regarding testing offsprings of ADPKD patients, it is now recommended by the KDIGO guidelines (2016) to routinely plan medical check-ups, with blood pressure measurement and urinalyses in all children at-risk for ADPKD, as a standard of care. Yet there is a lack of longitudinal data of large pediatric ADPKD cohorts.

There is a huge variation in disease phenotype and progression, even intra-familial, which is not well understood. Apart from total kidney volume (TKV), age and genotype, no clear prognostic indicators are defined in the published ADPKD literature, and no are known in childhood.


ADPedKD, initiated by Djalila Mekahli (Leuven, Belgium) and Max Liebau (Cologne, Germany), is a international, longitudinal registry including ADPKD patients followed up from childhood.

This project aims to provide an observational evidence base for unified diagnostic, follow-up and treatment approaches regarding modifiable disease factors such as hypertension in order to slow down disease progression.

Inclusion and exclusion criteria have been defined (see "How to use ADPedKD"). The diagnosis of ADPKD relies on familial history, renal imaging and/or genetic criteria. After informed consent, patient data is pseudonymously introduced in a web-based database. Data protection is secured by use of SSL-connections and password restriction of the webpage. The clinical data collected, will be statistically analyzed with the help of an experienced bio-informatician. Special interest is paid to the initial clinical presentation and pre- and perinatal history.

If you would like to join the ADPKD registry ADPedKD, please fill in the registration form.