【摘要】 目的总结1例儿童原发性高草酸尿Ⅲ型(PHⅢ)病例,提高对该病的认识。方法采集该患儿病史,总结其临床特点,了解其结石成分,对其进行代谢评估并进行基因分析;对患儿父母HOGA1基因直接测序并分析突变位点;对患儿进行密切随访;对该疾病进行文献综述。结果患儿HOGA1基因IVS2+1G>T、c.345G>T、c.345G>A杂合突变;其母携带IVS2+1G>T、c.345G>T杂合突变,其父携带c.345G>A杂合突变;患儿为HOGA1基因复合杂合突变,其3个突变位点尚未见文献报导。嘱患儿大量均匀饮水,低草酸饮食,正常钙饮食,限制动物蛋白的摄入。予枸橼酸氢钾钠升高尿枸橼酸,予以氢氯噻嗪降低尿钙。随访半年,患儿尿草酸水平较前基本持平,尿钙水平下降至正常范围,尿枸橼酸水平较前上升,肾功能在正常范围内。泌尿系B超提示结石无明显增大。结论 PH III发病年龄早,结石成分常为以二水草酸钙为主的混合性含钙结石,一般不伴肾功能损害;基因分析为确诊该病无创而有效的手段,患者父母基因分析对确诊该病有帮助。早期诊断与干预对防止疾病的进一步发展有重要作用。更多还原

【Abstract】 Objective To summarize the clinical data of a child with primary hyperoxaluria typeⅢ(PH Ⅲ)so as to improve the understanding on this disease.Methods The medical records of this child were collected,his clinical characteristics were summarized,and the stone composition and metabolism were evaluated.The mutant site of HOGA1 gene of the child’s parents was sequenced.The child was closely followed up and relevant literatures were review.Results IVS2+1G>T,c.345G>T and c.345G>A heterozygous mutation in HOGA1 gene were detected in the child.HOGA1 gene analysis showed his mother had IVS2+1G>T and c.345G>T heterozygous mutation,and his father had c.345G>A heterozygous mutation.The child had compound heterozygous mutation of HOGA1 gene,while the three mutations had not been reported in the literatures.The child was instructed to drink large amounts of liquid,eat low-oxalate and normal calcium diet,and limit intake of animal protein.Potassium sodium hydrogen citrate was used to increase urinary citrate level,and hydrochlorothiazide was used to reduce urinary calcium level.After a follow-up of 6 months,urinary oxalate level essentially flatted compared with the previous level,urinary calcium level dropped to normal range,urinary citrate level increased than before,and renal function was within the normal range.Urinary B ultrasound indicated that stones had no significant increase.Conclusions PH Ⅲ has an early onset.The stone composition is mixed calcium stones with calcium oxalate dehydrate,which is not associated with renal dysfunction generally.Genetic analysis is a non-invasive and effective means for the diagnosis.The genetic analysis of the patients’parents is helpful for the diagnosis.Early diagnosis and intervention have an important role in preventing further development of the disease.更多还原