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Autosomal dominant polycystic kidney disease: early diagnosis and data for genetic counselling
Insights
Early genetic counseling for autosomal dominant polycystic kidney disease (ADPKD) is challenging. This study found that normal imaging in at-risk adults over 19 significantly reduces the likelihood of inheriting the ADPKD gene.
Area of Science:
- Nephrology
- Medical Genetics
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) diagnosis is often delayed until adulthood, complicating genetic counseling.
- Early identification of individuals at risk for ADPKD is crucial for timely intervention and management.
Purpose of the Study:
- To evaluate the efficacy of excretory urography with nephrotomography and radionuclide imaging in the early detection of ADPKD in at-risk offspring.
- To refine genetic counseling by assessing the probability of inheriting the ADPKD gene based on imaging results in different age groups.
Main Methods:
- 261 offspring of individuals with ADPKD underwent excretory urography with nephrotomography and radionuclide imaging.
- Imaging results were analyzed and compared with expected disease prevalence based on age and family history.
- Agreement between the two imaging modalities was assessed.
Main Results:
- Excellent agreement was observed between excretory urography with nephrotomography and radionuclide imaging.
- In the 15-19 year age group, only 30% of at-risk subjects were diagnosed with ADPKD, lower than the expected 50%.
- In subjects over 19, 57% of at-risk individuals were diagnosed; this decreased to 43% when probands were excluded, not significantly different from the expected 50%.
Conclusions:
- Normal urograms and radionuclide images in at-risk individuals over 19 years old suggest a less than 5% chance of inheriting the ADPKD gene.
- These imaging techniques are valuable for early ADPKD detection and improving the precision of genetic counseling for at-risk populations.
Abstract:
Because of the onset of symptoms in patients with autosomal dominant polycystic kidney disease is generally delayed until adulthood, genetic counseling is imprecise. In an attempt to identify patients early, 261 offspring of subjects with the gene for polycystic disease were tested. Agreement between the results of excretory urography with nephrotomography and radionuclide imaging was excellent. In the 15-19 year age group, polycystic kidney disease was diagnosed in only 30% of 33 subjects at risk, whereas the expected figure was 50%. The disease was diagnosed in 57% of 228 subjects at risk who were aged over 19. When the probands were excluded, this figure was 43% and did not differ significantly from the expected 50%. These data suggest that persons at risk aged over 19 years who have normal urograms and radionuclide images have less than a 5% chance of having inherited the gene for polycystic kidney disease.