Child Kidney Dis.
2019 Oct;23(2):59-66. 10.3339/jkspn.2019.23.2.59.
Primary Hyperoxaluria in Korean Pediatric Patients
- Affiliations
-
- 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cheonghi@snu.ac.kr
- 2Department of Pediatrics, Chungnam National University Children's Hospital, Daejeon, Korea.
- 3Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
- 4Department of Pediatrics, Asan Medical Center, Seoul, Korea.
- 5Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
- KMID: 2464929
- DOI: http://doi.org/10.3339/jkspn.2019.23.2.59
Abstract
- BACKGROUND
Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR , and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH.
METHODS
In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records.
RESULTS
Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3).
CONCLUSION
Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.
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