Clinical Characteristics and Kidney Outcomes in Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.

KEY POINTS: The Mayo clinic imaging classification allows more accurate risk stratification but is limited by the lack of data on non-White populations and on atypical imaging patterns. In this cohort of Chinese patients with autosomal dominant polycystic kidney disease, an atypical imaging pattern was observed in 17% of the cases, associated with later presentation and a milder disease course. There may be genotypic differences, especially among those with atypical imaging. Future genotyping studies will help to define the genetic basis for the phenotypic spectrum in Chinese patients.

BACKGROUND

The management of autosomal dominant polycystic kidney disease (ADPKD) remains challenging with variable and uncertain genotype–phenotype correlations. The Mayo clinic imaging classification allows more accurate risk stratification but is limited by the atypical imaging patterns. We aim to assess the clinical characteristics and the morphology of the cystic kidneys in a cohort of Chinese patients with ADPKD.

METHODS

Ninety-eight patients with ADPKD were recruited prospectively from August 2019 to December 2020 in Prince of Wales Hospital, Hong Kong. They were subsequently followed up every 6 months for a minimum of 2 years. We reviewed the clinical characteristics and magnetic resonance imaging patterns at baseline and the kidney outcome at the end of the follow-up. Atypical imaging patterns included unilateral, segmental, asymmetric, lopsided, and bilateral atrophy as defined by the Mayo Imaging Classification.

RESULTS

The mean age was 51.5±14.3 years, and the mean eGFR 68.7±27.5 ml/min per 1.73 m2. The 98 patients included 36 male and 62 female. Seventy-six patients (77.6%) had a family history. Seventeen of the 98 (17.3%) patients had atypical imaging patterns. Compared with typical cases, atypical cases were older at the time of diagnosis (49.5±16.0 versus 33.0±13.0 years, P < 0.001) and at the time of starting antihypertensive medications (52.4±14.8 versus 39.7±11.0 years, P = 0.001) and were less likely to have a positive family history (58.8% versus 81.5%, P = 0.042). Patients with atypical patterns showed a lower eGFR decline compared with those with the typical pattern (−0.86±4.34 versus −3.44±4.07 ml/min per 1.73 m2 per year, P = 0.022).

CONCLUSIONS

In this cohort of Chinese patients with ADPKD, an atypical imaging pattern was observed in 17% of the cases, associated with later presentation and a milder disease course. Future genotyping studies will help to define the genetic architecture and the basis for the phenotypic spectrum in Chinese patients with ADPKD.