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KMID : 1040420190230020059
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Childhood Kidney Diseases
2019 Volume.23 No. 2 p.59 ~ p.66
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Primary Hyperoxaluria in Korean Pediatric Patients
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Choe Yun-Soo
Lee Ji-Won M.
Kim Ji-Hyun
Cho Myung-Hyun
Kim Seong-Heon
Lee Joo-Hoon
Park Young-Seo
Kang Hee-Gyung
Ha Il-Soo
Cheong Hae-Il
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Abstract
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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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KEYWORD
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Primary hyperoxaluria, AGXT gene, End stage renal disease, Genotype-phenotype correlation, Liver transplantation, Kidney transplantation
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