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

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 a 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. METHOD: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 of2 years. We reviewed the clinical characteristics and MRI 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. RESULT:Mean age was 51.5 ± 14.3 years old and the mean eGFR 68.7 ± 27.5 ml/min per 1.73 m2. The ninety-eight patients included 36 males:62 females. Seventy-six patients (77.6%) had a family history. Seventeen of the 98 (17.3%) patients had atypical imaging patterns. Compared to typical cases, atypical cases were older at the time of diagnosis (49.5 ± 16.0 vs 33.0 ± 13.0 years, p<0.001), at the time of starting antihypertensive medications (52.4 ± 14.8 vs 39.7 ± 11.0 years, p=0.001) and less likely to have a positive family history (58.8% vs 81.5%, p=0.042). Patients with atypical patterns showed a lower eGFR decline as compared to those with the typical pattern (-0.86 ± 4.34 vs -3.44 ± 4.07 ml/min per 1.73m2/year, p=0.022). CONCLUSION: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 ADPKD patients.