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Abstract: TH-PO863

Clinical Characteristics of Patients with Early-Onset ESKD in Autosomal Dominant Polycystic Kidney Disease: A Case Series

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic

Authors

  • Ghamrawi, Ranine, Mayo clinic, Rochester, Minnesota, United States
  • Zaatari, Ghaith, Mayo clinic, Rochester, Minnesota, United States
  • Shukoor, Shehbaz, Mayo clinic, Rochester, Minnesota, United States
  • Lavu, Sravanthi, Mayo clinic, Rochester, Minnesota, United States
  • Senum, Sarah R., Mayo clinic, Rochester, Minnesota, United States
  • Hogan, Marie C., Mayo clinic, Rochester, Minnesota, United States
  • Zoghby, Ziad, Mayo clinic, Rochester, Minnesota, United States
  • Harris, Peter C., Mayo clinic, Rochester, Minnesota, United States
  • Torres, Vicente E., Mayo clinic, Rochester, Minnesota, United States
  • Chebib, Fouad T., Mayo clinic, Rochester, Minnesota, United States
Background

Autosomal Dominant Polycystic Kidney Disease (ADPKD) has high phenotypic variability. Mutations in PKD2 versus PKD1 lead to milder disease, with average ages at End-Stage Kidney Disease (ESKD) of 79.7 and 58.1yrs , respectively. Some patients reach ESKD in early adulthood, but factors leading to such poor prognosis are unclear.

Methods

This is a cross-sectional study of patients with ADPKD presenting between 1992 and 2018 to Mayo Clinic who reached ESKD by age ≤ 35 and had detailed clinical information pre-ESKD. Among 4307 patients with ADPKD, 1079 reached ESKD with 18 by age 35. Clinical, genetic and radiological data prior to ESKD onset were collected. Kidney volumes were measured and adjusted by height (HtTKV).

Results

Ten patients (55%) were male and 16 (89%) were Caucasian. The average age at ESKD was 30.3 (+ 4.3) yrs. Average body mass index was 27.3(+5.6) Kg/m2. Among the 13 patients with genetic screening, 8 (61%) had PKD1 truncating and 5 (38%) had PKD1 non-truncating mutations, and one had a possible in trans PKD1 modifying allele. Seventeen patients were hypertensive (94%) with average age of onset of 23 (+6.5) yrs. Among 16 patients with abdominal imaging, 13 (81%) were classified as Mayo Class 1E and 3 (19%) as 1D. Mean HtTKV was 2148 (+1169) ml/m. Mean PROPKD score was 7.4 (+ 1.5). The majority of patients had cyst hemorrhage (89%) and more than half had ≥ 2 episodes (55%). The average age of the cyst hemorrhage occurrence was 22 + 8.5 yrs. Four (22%) patients had cyst infections, and 13 (72%) had at least a history of one episode of acute kidney injury. Seven patients (38%) had bilateral nephrectomies at time of ESKD due to recurrent cyst hemorrhage, three of whom were done concomitantly with their kidney transplantation.

Conclusion

We describe a series of patients with ADPKD who reached ESKD before age 35. All patients had PKD1 mutations and large kidney volumes (Mayo Class 1E and 1D). The majority of the patients had one or more episode of cyst hemorrhage. Prospective studies would be helpful in ascertaining the role of cyst hemorrhage in accelerating the decline of kidney function in patients with ADPKD.