Volume 13 Issue 2
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Wang Xinyue, Zhan Haosu, Sun Liying. Summary of clinical characteristics, diagnosis and treatment of primary hyperoxaluria type 1 in mainland China[J]. ORGAN TRANSPLANTATION, 2022, 13(2): 232-239. doi: 10.3969/j.issn.1674-7445.2022.02.012
Citation: Wang Xinyue, Zhan Haosu, Sun Liying. Summary of clinical characteristics, diagnosis and treatment of primary hyperoxaluria type 1 in mainland China[J]. ORGAN TRANSPLANTATION, 2022, 13(2): 232-239. doi: 10.3969/j.issn.1674-7445.2022.02.012
shu

Summary of clinical characteristics, diagnosis and treatment of primary hyperoxaluria type 1 in mainland China

doi: 10.3969/j.issn.1674-7445.2022.02.012

  • Department of Critical Liver Diseases, Liver Transplantation Center, Beijing Friendship Hospital, Capital Medical University, Clinical Diagnosis and Research Center of Pediatric Liver Transplantation of Capital Medical University, Beijing 100050, China

More Information
  • Corresponding author: Sun Liying, Email: sunxlx@outlook.com
  • Received Date: 2021-12-28
    Available Online: 2022-03-18
  • Publish Date: 2022-03-15
    Abstract
  •   Objective  To investigate the clinical manifestations, treatment and prognosis of primary hyperoxaluria type 1 (PH1).  Methods  Relevant literature review was conducted from Chongqing VIP, CNKI, Wanfang Data, PubMed, Web of Science, Embase and Cochrane databases. Clinical data of 57 patients with PH1 were collected, and the clinical manifestations, diagnosis and treatment and prognosis were analyzed.  Results  A total of 35 eligible studies were searched, including 57 patients with PH1, 39 male and 18 female, aged 0.2-57.0 years old, and the age of onset was from date of birth to 42 years old. The specificity of clinical symptoms of 57 patients with PH1 was relatively low, including 41 cases of renal stones, 21 cases of renal calcification and/or calcium deposition, 12 cases of oxalic acid deposition outside the urinary system, 12 cases of lumbago, backache and abdominal pain, and 8 cases of ureteral stones. Besides, alternative symptoms, such as decreased urine output, metabolic acidosis, disorder of water and electrolyte, anemia and gross hematuria were also reported. Thirty-three patients were diagnosed with end-stage renal disease (ESRD) upon admission. Twenty-six patients received transplantation. Among them, 17 cases underwent kidney transplantation (2 cases repeatedly received combined liver-kidney transplantation due to recurrence of stones and resumption of dialysis, and 1 case repeatedly received liver transplantation due to resumption of dialysis), 7 cases received combined liver-kidney transplantation, 2 cases underwent liver transplantation, and 3 cases received sequential liver-kidney transplantation, respectively. Thirty-one patients did not undergo transplantation. Significant differences were observed in the survival rate between patients treated with and without transplantation (85% vs. 58%, P < 0.05).  Conclusions  Clinical manifestations of PH1 are diverse and lack of specificity. A majority of PH1 patients are diagnosed with ESRD upon admission. Clinical prognosis of patients undergoing transplantation is better than that of those counterparts without transplantation. Prior liver transplantation or combined liver-kidney transplantation is recommended.

     

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