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Abstract: PO1660

CKD in Patients with Primary Hyperoxaluria Type 3: A Meta-Analysis from Literature

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Martin Higueras, Cristina, Dept. Ciencias Médicas Básicas, Fac. Medicina, Universidad de la Laguna, Tenerife, Spain
  • Barrios, Kelly, Dicerna Pharmaceuticals, Inc., Lexington, Massachusetts, United States
  • Hoppe, Bernd, German Hyperoxaluria Center, Bonn, Germany
Background

Primary hyperoxaluria type 3 (PH3) is considered the most benign phenotype of all forms of primary hyperoxaluria. Being it typical that patients with PH type 1 and 2 develop chronic kidney disease (CKD) or end-stage renal disease (ESRD), it appears to be more or less uncommon that patients with PH3 are on risk of CKD and even do not develop ESRD. We now aimed to determine the number of PH3 patients reported to have any kind of CKD.

Methods

We performed a literature meta-analysis, searching in PubMed and Embase with the following keywords: primary hyperoxaluria, PH, primary hyperoxaluria type III, PH III or PH3.

Results

We found 151 patients in 18 relevant papers published between 2010-2019. Age of diagnosis/disease onset ranged from 1 month to 48 years of life. Most of the patients suffered recurrent urolithiasis, most often during the first years of life, but recurrent kidney stone episodes were also found later in life. The most common mutations found were the c.700+5G>T splice site mutation (37%) and the p.E315del mutation (22%). In 77 patients any information was provided with regard to renal function, in 22 of those kidney function was said to be normal, but no eGFR or CKD stage was mentioned. In 25 patients kidney function was found to be normal based on eGFR levels. CKD stage 1 was reported in 21 patients, CKD stage 2 in 5 patients, CKD-3 in 2 patients and 1 patient each had CKD stage 4 or ESRD, respectively. In 10 patients, follow-up measures were available, as their data were included in two papers (5 years apart from each other). Here, in 1 patient eGFR significantly declined from 134 to 68.1 ml/min/1.73 m2, while 2 patients remained in CKD-1 and in 5 kidney function remained normal over time. In 1 patient kidney function ameliorated under standard treatment of care from CKD 1 to normal.

Conclusion

There is a massive bias in the data published, as data on kidney function is mostly not completely reported. Kidney function was normal only in 22 of the 54 patients (41%) with complete information. CKD-2 or worse was observed in 16.7% of PH3 patients, and even one patient with ESRD was described. Also, one PH3 patient had died at age 4 months because of respiratory failure and not because of PH. Thus, as true long-term follow-up data is still missing, we nevertheless suspect PH3 not being as benign as currently being reported.

Funding

  • Commercial Support –