Autosomal Dominant Polycystic Kidney Disease Management and Outcomes

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterised by progressive formation and enlargement of fluid-filled cysts in the renal parenchyma, most commonly due to mutations in PKD1 or PKD2. Clinically, the disease manifests as an insidious rise in total kidney volume (TKV), accompanied by hypertension, pain and gradual decline in estimated glomerular filtration rate (eGFR). Management strategies encompass blood pressure control, primarily with renin–angiotensin system blockers, and lifestyle modification, alongside emerging targeted therapies. The advent of vasopressin V2 receptor antagonists has introduced disease-modifying potential by attenuating cyst growth. Imaging biomarkers such as TKV and height-adjusted TKV (htTKV), integrated with age and genetic data, inform risk stratification and treatment decisions. Early identification of rapid progressors allows timely intervention to slow progression towards end-stage kidney disease, while genetic counselling remains central to family planning and prognostic guidance. Overall, multidisciplinary care combining pharmacological, radiological and genetic tools has reshaped outcomes, offering improved preservation of renal function and quality of life.

Research from Nature Portfolio

Building on consensus guidelines for paediatric and adult care, an international panel has refined surveillance protocols to balance early detection and patient autonomy. Ultrasonography remains the first-line imaging modality, with genetic testing reserved for atypical presentations or early-onset disease. Recommendations emphasise ambulatory blood pressure monitoring in at-risk minors and judicious off-label consideration of vasopressin antagonists in selected cases, whilst discouraging routine use of mTOR inhibitors and somatostatin analogues outside clinical trials. Separately, advances in deep learning have enabled fully automated segmentation of polycystic kidneys on cross-sectional imaging, yielding rapid, reproducible measurements of TKV with clinical-grade accuracy (mean Dice similarity coefficient ~0.86). This technological leap facilitates high-throughput monitoring of disease trajectory and evaluation of therapeutic efficacy, underpinning personalised management strategies.

Autosomal Dominant Polycystic Kidney Disease Management and Outcomes publication trend

The graph below shows the total number of articles in autosomal dominant polycystic kidney disease management and outcomes across all publications each year (not limited to Nature Index journals).

Technical terms

Autosomal dominant inheritance: A mode of genetic transmission in which a single mutant allele causes disease in an individual.

Total kidney volume (TKV): The combined volume of both kidneys measured by imaging, serving as a surrogate marker for cyst burden and disease progression.

Estimated glomerular filtration rate (eGFR): A calculated index of renal filtration capacity used to assess and monitor kidney function.

Vasopressin V2 receptor antagonist: A class of drugs (e.g., tolvaptan) that inhibits vasopressin-mediated cyclic AMP signalling to slow cyst growth.

Mayo Imaging Classification (MIC): An age-adjusted categorisation of height-adjusted TKV trajectories for predicting individual disease progression.

References

1. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nature Reviews Nephrology (2019).
2. Automatic Segmentation of Kidneys using Deep Learning for Total Kidney Volume Quantification in Autosomal Dominant Polycystic Kidney Disease. Scientific Reports (2017).
3. Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. Journal of Clinical Investigation (2024).
4. The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD. JCI Insight (2020).
5. Multicenter, open-label, extension trial to evaluate the long-term efficacy and safety of early versus delayed treatment with tolvaptan in autosomal dominant polycystic kidney disease: the TEMPO 4:4 Trial. Nephrology Dialysis Transplantation (2017).