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从有肾结石风险的人身上活体捐献肾脏,重点关注遗传形式。

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.

机构信息

UOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Renal Unit, Department of Medicine, University Hospital of Verona, Verona, Italy.

出版信息

Urolithiasis. 2019 Feb;47(1):115-123. doi: 10.1007/s00240-018-1092-4. Epub 2018 Nov 23.

DOI:10.1007/s00240-018-1092-4
PMID:30470867
Abstract

Deciding whether to accept a donor with nephrolithiasis is a multifaceted task because of the challenge of finding enough suitable donors while at the same time ensuring the safety of both donors and recipients. Until not long ago, donors with a history of renal stones or with stones emerging during screening on imaging were not considered ideal, but recent guidelines have adopted less stringent criteria for potential donors at risk of stones. This review goes through the problems that need to be approached to arrive at a wise clinical decision, balancing the safety of donors and recipients with the need to expand the organ pool. The risk of declining renal function and worsening stone formation is examined. Documents (consensus statements, guidelines, etc.) on this issue released by the most important medical societies and organizations are discussed and compared. Specific problems of living kidney donation associated with certain systemic (chronic hypercalcemia due to CYP24A1 gene mutations, primary hyperoxaluria, APRT deficiency) and renal (medullary sponge kidney, cystinuria, distal renal tubular acidosis, Dent's disease, Bartter syndrome, familial hypomagnesemia with hypercalciuria and nephrocalcinosis) Mendelian disorders that cause nephrolithiasis are also addressed.

摘要

决定是否接受患有肾结石的供体是一项多方面的任务,因为在寻找足够多合适供体的同时,还需要确保供体和受者的安全。直到不久前,有肾结石病史或在影像学筛查中出现结石的供体都不被认为是理想的,但最近的指南对于有结石风险的潜在供体采用了不那么严格的标准。这篇综述探讨了需要解决的问题,以做出明智的临床决策,在平衡供体和受者的安全性与扩大器官库的需求之间取得平衡。检查了肾功能下降和结石形成恶化的风险。讨论并比较了最重要的医学协会和组织发布的关于这个问题的文件(共识声明、指南等)。还讨论了与某些系统性疾病(由于 CYP24A1 基因突变导致的慢性高钙血症、原发性高草酸尿症、APRT 缺乏症)和肾脏疾病(髓质海绵肾、胱氨酸尿症、远端肾小管酸中毒、Dent 病、Bartter 综合征、家族性低镁血症伴高钙尿和肾结石)相关的活体肾脏捐献的具体问题,这些疾病会导致肾结石。

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本文引用的文献

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Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.遗传性厚升支袢和连接小管缺陷导致的肾结石病。
Urolithiasis. 2019 Feb;47(1):43-56. doi: 10.1007/s00240-018-1097-z. Epub 2018 Nov 20.
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Molecular basis of primary hyperoxaluria: clues to innovative treatments.原发性高草酸尿症的分子基础:创新治疗的线索。
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Conversion from Cystine to Noncystine Stones: Incidence and Associated Factors.
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Short-Term Changes in Urinary Relative Supersaturation Predict Recurrence of Kidney Stones: A Tool to Guide Preventive Measures in Urolithiasis.短期尿相对过饱和度变化可预测肾结石复发:一种指导尿石症预防措施的工具。
J Urol. 2018 Nov;200(5):1082-1087. doi: 10.1016/j.juro.2018.06.029. Epub 2018 Jun 22.
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Chronic pain in medullary sponge kidney: a rare and never described clinical presentation.海绵肾合并髓质慢性疼痛:一种罕见且从未描述过的临床表现。
J Nephrol. 2018 Aug;31(4):537-542. doi: 10.1007/s40620-018-0480-8. Epub 2018 Feb 21.
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Hyperuricosuric calcium urolithiasis.高尿酸尿钙结石。
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8
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.遗传性远端肾小管性酸中毒的病理生理学、诊断和治疗。
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KDIGO Clinical Practice Guideline on the Evaluation and Care of Living Kidney Donors.KDIGO 活体肾捐献者评估与管理临床实践指南
Transplantation. 2017 Aug;101(8S Suppl 1):S1-S109. doi: 10.1097/TP.0000000000001769.
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Long term follow up of kidney donors with asymptomatic renal stones.无症状肾结石肾捐献者的长期随访
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