Progression and Prognosis in Patients With ADPKD Without Family History

Among patients with autosomal dominant polycystic kidney disease (ADPKD), a small percentage have no clear family history. This subgroup of patients may face a different clinical course and disease prognosis than those with family history of ADPKD.

Vasiliki Gkika and colleagues conducted a study to examine the progression and prognostication of end-stage renal disease (ESRD) in a large cohort of patients with and without a family history of ADPKD. Results were reported at the ERA 59th Congress in a presentation titled Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Without a Clear Family History Have Rapid Progression and Poor Prognosis.

The study included 291 patients who were being followed in a specialized ADPKD outpatient clinic. Patients with and without a clear family history or confirmatory genetic test for ADPKD who had more than ten kidney cysts in a recent magnetic resonance imaging (MRI) scan were included in the study.

Total kidney volume was calculated by MRI at study enrollment, and the Mayo Clinic Imagining Category was determined (MCIC). ESRD was defined as future estimated glomerular filtration rate <10 mL/min/1.73 m² based on the Mayo Clinic Formula that takes into consideration age, total kidney volume, eGFR, sex, race, and MCIC.

Of the 291 patients in the overall study cohort, 11.68% (n=34) had no clear family history of ADPKD, and 88.32% (n=257) had a clear family history. The two groups were similar in age, sex, the presence (or not) and age at diagnosis of hypertension, and body mass index. The groups were also similar in age at diagnosis of ADPKD, eGFR, chronic kidney disease stage, and albuminuria.

Total kidney volume tended to be higher in the group of patients without a clear family history compared with those with a family history of ADPKD (median, 2210.3 mL vs 1649.9 mL, respectively; P=.09). Height-adjusted total kidney volume was also higher in the group without family history (P=.08).

In MCIC classification, more patients in the non-family history group were classified 1C, 1D, and 1E than those in the group with family history of ADPKD (88.89% vs 70.14%, respectively); the opposite was true for MCIC 1A and 1B (11.11% vs 29.86%, respectively; P=.04). For patients without a clear family history of ADPKD, the ESRD prediction was 15.66 years versus 34.1 years for those with a clear family history of ADPKD (P=.025).

In summary, the authors said, “Patients with ADPKD without a clear family history tend to have more rapid progression and a worse renal prognosis than those with a clear family history of the same disease.”

Source: Gkika V, Louka M, Fokas S, et al. Patients with autosomal dominant polycystic kidney disease (ADPKD) without a clear family history have rapid progression and poor prognosis. Abstract of a presentation at the European Renal Association 59th Congress (M0008), Paris, France, May 19-22, 2022.