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Kidney Week

Abstract: PO1266

A Single-Center Experience of ARPKD in Adults

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic

Authors

  • Sambharia, Meenakshi, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa, United States
  • Gupta, Sonali, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa, United States
  • Thomas, Christie P., The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa, United States
Background

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy with 50% presenting with enlarged kidneys in utero or early infancy. ARPKD has an incidence of ~1:20,000 live births and arises from biallelic variants in PKHD1 encoding for fibrocystin, with variants in DZIP1L accounting for <1% cases. Imaging findings include large echogenic kidneys, poor cortico-medullary differentiation, renal cysts or “salt and pepper appearance”. ARPKD-congenital hepatic fibrosis (ARPKD-CHF) complex consists of renal disease with biliary dilatation portal hypertension and splenomegaly. 50% develop ESRD in childhood with limited data on renal prognosis for those that present later.

Methods

A retrospective chart review of patients > 16 yr of age with cystic kidney disease and/or congenital hepatic fibrosis to identify possible cases of ARPKD. Clinical phenotype (compatible hepato-biliary and renal involvement) and/or genetic testing were used to verify the diagnosis.

Results

We identified 29 patients with ARPKD-CHF, out of which 13 were > 16 yr (mean 32.4 yr). 38% were males, 15% identified as Hispanic and the rest as non-Hispanic whites. All had radiographic evidence of renal and/or hepato-biliary involvement and 5 of 13 patients had biallelic variants in PKHD1. On the most recent imaging study, 92% had renal cysts, 23% large echogenic kidneys, 23% poor renal corticomedullary differentiation, 15% medullary sponge kidney, 23% with salt and pepper pattern. Only 3 of 15 (20%) had reached ESRD or received a kidney transplant, while the remaining had a mean eGFR of 46ml/min/1.73m2. Of these, 50% had eGFR ≥ 60ml/min/1.73m2.
Amongst those with hepato-biliary involvement, 40% had CHF, 53% portal hypertension, 40% splenomegaly, 26% liver cysts.

Conclusion

We describe a cohort of patients with ARPKD, the majority presenting as adults, with an eGFR ≥ 60ml/min/1.73m2. A significant number of these patients had multiple large renal cysts. Absence of obvious renal phenotype in patients with congenital hepatic fibrosis can make the diagnosis challenging, requiring a high degree of clinical suspicion. We believe that we may have missed a significant number of patients without obvious combined hepatic and renal abnormalities who may have had delayed onset ARPKD. Our small series suggest that some patients with ARPKD present as adults with a more limited phenotype that can easily be mistaken for ADPKD.