Primary Hyperoxaluria Type 1 with Chronic Renal Failure:A Case Report and Literature Review
Objective To summarize the clinical data of rare primary type 1 hyperoxaluria(PH1)in children.Methods The clinical characteristics and gene variation of 1 child with PH1 were analyzed and literature review was carried out.Results A seven years old boy hospitalized in our hospital kidney ward because of vomiting and diarrhea for 2 days prior to 7 days,edema lasted for four days,abnormal urine test and elevated serum creatinine for six hours.After admission,we found that he had renal failure,renal anemia,high blood pressure,kidney stones,calcification of renal vertebrae,and genetic testing suggests homozygous AGXT variation.Combined with positive family history,primary hyperoxaluria type 1(AGXT gene variation)was diagnosed.The patient died two months after his diagnosis of primary hyperoxaluria type 1 because he had missed the best time for treatment.Conclusion Screening for primary hyperoxaluria should be performed as soon as possible for children with clinical kidney stones.Early diagnosis and treatment may improve prognosis and prolong life.
万方数据
维普
