265 - Survival and Functional Outcomes of Pediatric Patients with Autosomal Recessive Polycystic Kidney Disease: A Single Center Cohort

Poster Number: 265
Publication Number: 265.251

Camille H. Nicolas Frank, Boston Children's Hospital, Somerville, MA, United States; Elizabeth Benoit, Boston Children's Hospital, Salisbury, MA, United States; Michael Ferguson, Boston Children's Hospital, Boston, MA, United States; Deborah Stein, Boston Children's Hospital, Brookline, MA, United States

Background:
Autosomal recessive polycystic kidney disease (ARPKD) is a rare complex disease, seen in 1/20,000 live births.ARPKD is a severe condition with life-threatening manifestations for which clinical management is evolving.A large cohort of patients from North America published in 2003 reported survival of 74%.ARPKD diagnosis and survival has changed drastically over the past 2 decades due to progress in genetic testing, prenatal imaging, NICU management and infant dialysis.


Objective: We assert this has led to improved survival.

Design/Methods:
We conducted a single center retrospective chart review of patients with ARPKD born from January 1, 2000 to June 30, 2022, with hospital IRB approval.32 patients were identified.When available, prenatal findings were correlated.Data related to ARPKD diagnosis was collected and stored in a study specific REDCap database.SPSS version 27 was used for statistical analyses.Logistic and linear regression models were investigated, with a p-value of ≤0.05 considered statistically significant.


Results:
Of 32 patients (22M, 10F), 4 died (12.5%, 3 before 12 mos), including one who received amnioinfusion. Death was secondary to infection (2) and neurologic devastation leading to redirection of care (2).Prenatal findings included 9 with anhydramnios, 14 with oligohydramnios, and 9 not documented.Those with anhydramnios had a more severe course with lower eGFR at 1 month (32 vs 62 mL/min/1.73m2, p< 0.05) and initiation of dialysis before 12 mos compared to mean age of dialysis initiation of 28 mos in those with oligohydramnios (p< 0.05).14 had nephrectomies (12 unilateral; 2 bilateral).There was no difference in age of nephrectomy between groups.Decision for nephrectomy was primarily based on pulmonary status and renal function.At the time of data collection, 12 had initiated dialysis and 14 had received a kidney transplant.Nearly all (26) were admitted to NICU.16 had confirmed genetic diagnosis with PKHD1 mutations.26 were hypertensive, 1 with hypertensive stroke, and 3 with left ventricular hypertrophy.


Conclusion(s):
We report a single center cohort of 32 patients with ARPKD.Anhydramnios, as expected, predicts a more severe course with earlier need for dialysis.While the complication rate is high, survival is improving over time.Though anhydramnios is often described as lethal, we report several cases of survival after one year of life.Therapies including nephrectomy, dialysis and transplantation have the potential to improve long-term survival.Families must be educated regarding the risk of complications, many of which may be lifelong, in order to inform decision-making.