Al Riyami Mohamed S, Al Ghaithi Badria, Al Hashmi Nadia, Al Kalbani Naifain
Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, P.O. Box 1331, 111 Muscat, Oman.
Int J Nephrol. 2015;2015:634175. doi: 10.1155/2015/634175. Epub 2015 Mar 30.
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral center in Oman. Method. Retrospective review of children diagnosed with PH1 at a tertiary hospital in Oman from 2000 to 2013. Result. Total of 18 children were identified. Females composed 61% of the children with median presentation age of 7 months. Severe renal failure was initial presentation in 39% and 22% presented with nephrocalcinosis and/or renal calculi. Family screening diagnosed 39% of patients. Fifty percent of the children underwent hemodialysis. 28% of children underwent organ transplantation. The most common mutation found in Omani children was c.33-34insC mutation in the AGXT gene. Conclusion. Due to consanguinity, PH1 is a common cause of ESRD in Omani children. Genetic testing is recommended to help in family counseling and helps in decreasing the incidence and disease burden; it also could be utilized for premarital screening.
背景。原发性高草酸尿症属于一组罕见的常染色体隐性遗传代谢紊乱疾病。它由AGXT基因突变引起，在发展中国家，由于近亲结婚率较高，这种突变更为常见。即使是来自同一家族的儿童，其临床表现也具有异质性；本研究旨在确定阿曼一家三级转诊中心诊断为PH1的儿童的临床特征、AGXT基因突变类型及预后。方法。对2000年至2013年在阿曼一家三级医院诊断为PH1的儿童进行回顾性研究。结果。共确定了18名儿童。女性占儿童总数的61%，中位发病年龄为7个月。39%的患儿最初表现为严重肾衰竭，22%表现为肾钙质沉着症和/或肾结石。通过家族筛查诊断出39%的患者。50%的儿童接受了血液透析。28%的儿童接受了器官移植。在阿曼儿童中发现的最常见突变是AGXT基因中的c.33 - 34insC突变。结论。由于近亲结婚，PH1是阿曼儿童终末期肾病的常见病因。建议进行基因检测以辅助家族咨询，并有助于降低发病率和疾病负担；它也可用于婚前筛查。
