PREDICTORS OF RAPID PROGRESSION IN A RETROSPECTIVE AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE COHORT IN SOUTH AFRICA: PRELIMINARY RESULTS

In an era of disease-modifying therapies, stratifying patients by risk of progression is paramount. Although Autosomal dominant polycystic kidney disease (ADPKD)Z presenting with both liver and kidney cysts has been shown to follow a family pattern, it is not known whether this is associated with a severe disease presentation and rapid progression. Hence, we aimed to describe how ADPKD presenting with liver cysts relates to disease severity.

We reviewed the electronic medical records of patients seen at the nephrology department of the Inkosi Albert Luthuli Central Hospital from 2002 to 2023.  We are reporting on 57 patients with a proven diagnosis of ADPKD on ultrasound criteria. We extracted demographic, clinical, and paraclinical data. We divided the population into rapid progressors (ESKD before the age of 50, reduction of eGFR > 5ml/min on measurements at least two years apart) and slow progressors. We performed logistic regression analysis to find any association with disease severity. 

We observed a female predominance (61.4%), with an average age at presentation of 45 ± 12 years. Black Africans and Indians were the most predominant racial groups. Kidney failure (38.6%) was the most common context for ADPKD diagnosis, followed by abdominal or flank pain (17.5%) and incidental imaging (14%). The prevalent complications were intracystic hemorrhage (26.3%) and hematuria (17.5%). The most frequent extra-renal manifestations were liver cysts (35.1%), followed by hernias (14%). Comorbidities included Type 2 Diabetes Mellitus (15.58%), dyslipidemia (19.3%), and HIV (10%). A majority presented with ESKD at the first visit (43%) and the median eGFR at the first visit was 33 ml/min [2.51-121]. Follow-up duration ranged from 1 to 20 years. Logistic regression analysis indicated that ADPKD presenting with liver cysts increased the risk of haematuria, although this association was not statistically significant after adjusting for eGFR (Table 1).

Table 1: Logistic regression analysis

Preliminary results suggest that ADPKD presenting with liver cysts is associated with an increased risk of complications such as haematuria but did not differ significantly in terms of disease progression compared to patients with kidney cysts only. Further investigation within a larger cohort is ongoing.