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Abstract: FR-PO982

Clinical and Radiologic Features of Older-Age ARPKD Patients

Session Information

Category: Genetic Diseases of the Kidney

  • 1001 Genetic Diseases of the Kidney: Cystic

Authors

  • Moraes, André L., University of Sao Paulo, S?o Paulo, Brazil
  • Watanabe, Elieser H., University of Sao Paulo, S?o Paulo, Brazil
  • Neves, Precil D., University of Sao Paulo, S?o Paulo, Brazil
  • Watanabe, Andreia, University of Sao Paulo, S?o Paulo, Brazil
  • Onuchic, Luiz F., University of Sao Paulo, S?o Paulo, Brazil
Background

Autosomal recessive polycystic kidney disease (ARPKD) presents classically in pediatric age, affecting primarily kidney and liver and constituting a frequent cause of ESKD in children. While its manifestations are well characterized and quantified in pediatric population, they are not so well established in adults.

Methods

To assess the disease burden in older patients (pts), we retrospectively analyzed the biometric, clinical, laboratorial and radiologic features in a case series of 12 ARPKD individuals with >16 years of age.

Results

This study included 7 male and 5 female pts, with median age of 22 years (19.0-34.5). Mean height and body mass index were 172.0+10.5 cm and 21.3+2.8 kg/m2 in males and 160.2+6.4 cm and 20.9+3.9 kg/m2 in females. Half of the pts were hypertensive, evenly distributed among the 6 cases in renal replacement therapy (RRT) and the 6 pts not in this therapy. RRT was initiated at 17.5+8.1 years, including 5 kidney transplants and 1 hemodialysis. Two pts (16.7%) developed nephrocalcinosis, 1 of them with associated nephrolithiasis. One pt underwent unilateral nephrectomy prior to kidney transplantation. Total kidney volume (TKV) was calculated in 8 pts for whom computed tomography or magnetic resonance imaging was available, showing a mean value of 575.6+540.4 mL. TKV did not correlate with RRT requirement (p=0.49). The 2 pts with shrunken kidneys were in RRT. Post-transplant native TKV (3-9 years of follow-up) displayed a trend of lower values compared to kidneys of nontransplanted pts [115.1 mL (50.5-337.8) vs 535.4 mL (396.2-1387.0); p=0.07]. Most of the 12 cases developed liver and/or portal hypertension-related manifestations, including hypersplenism (66.7%), esophageal varices (50%), Caroli syndrome (25%), and need of liver transplantation (8.3%). One pt died due to rupture of a basilar artery dolichoectasia, however no episodes of cholangitis were observed.

Conclusion

In addition to findings expected in older ARPKD pts, our analyses revealed relevant complementary information and brought interesting insights into ARPKD clinical reality. Our data suggest absence of growth deficit and lower frequencies of hypertension and cholangitis in older pts than reported for younger or broad-age pt populations. Moreover, kidney size tends to decrease after transplantation, reproducing findings obtained in autosomal dominant PKD.

Funding

  • Government Support - Non-U.S.