中国大陆原发性高草酸尿症1型临床特点及诊治情况总结

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

    摘要
  • 摘要:
      目的  探讨原发性高草酸尿症1型(PH1)的临床表现、治疗及预后。
      方法  检索维普网、中国知网、万方数据库、PubMed、Web of Science、Embase和Cochrane数据库中的相关文献，收集57例PH1患者的临床资料，对其临床表现、诊疗经过及预后情况进行分析。
      结果  共纳入符合标准的文献35篇，共57例PH1患者，其中男39例，女18例，年龄0.2~57.0岁，发病年龄为出生后至42岁。57例PH1患者的临床症状表现特异性较低，肾结石41例，肾钙化和(或)肾钙质沉积21例，泌尿系统外草酸沉积12例，腰背腹痛12例，输尿管结石8例，此外尿量减少、代谢性酸中毒、水电解质紊乱、贫血、肉眼血尿等症状均有报道，有33例在诊断时已进入终末期肾病(ESRD)阶段。26例患者接受移植治疗，肾移植17例(2例因结石复发、恢复透析再次接受肝肾联合移植，1例恢复透析并再次接受肝移植)，肝肾联合移植7例，肝移植2例，肝肾序贯移植3例。31例患者未接受移植治疗。接受移植治疗的患者与未接受移植治疗的患者存活率差异有统计学意义(85%比58%，P < 0.05)。
      结论  PH1的临床表现多样且缺乏特异性，发现时多已进入ESRD阶段，接受移植治疗较未接受移植治疗的患者预后更佳，应优先考虑预先肝移植或肝肾联合移植。

     

    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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