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一名患有2型黄嘌呤尿症的年轻男性成功进行了肾移植。

Successful Kidney Transplantation in a Young Male with Type 2 Xanthinuria.

作者信息

Kota Mahesh, Madarasu Rajasekara Chakravarthi, Penmetsa Vijay Varma, Gutta Srinivas, Naidu Aniketh

机构信息

Department of Nephrology, Yashoda Hospital, Hitech City, Hyderabad, Telangana, India.

Department of Urology, Yashoda Hospital, Hitech City, Hyderabad, Telangana, India.

出版信息

Indian J Nephrol. 2024 Jul-Aug;34(4):403-405. doi: 10.25259/ijn_509_23. Epub 2024 Jun 24.

DOI:10.25259/ijn_509_23
PMID:39156844
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11326788/
Abstract

Type-II Xanthanuria is an genetic disorder associated with diminished serum uric acid levels. Patients with xanthanuria has absence of xanthine oxidase or xanthine dehydrogenase activity, the enzyme that converts hypoxanthine to xanthine and xanthine to uric acid. Deficiency of these enzyme leads to elevated levels of xanthine in urine which further leads to precipitation of xanthine in urine which further helps to formation of renal stones and ultimately leads to chronic kidney disease and end stage renal disease. We report a 23 years old male, who reached ESRD due to Type 2 xanthinuria, which was confirmed by genetic studies, who later successfully underwent renal transplant surgery and currently having normal life with functioning graft.

摘要

II型黄嘌呤尿症是一种与血清尿酸水平降低相关的遗传性疾病。黄嘌呤尿症患者缺乏黄嘌呤氧化酶或黄嘌呤脱氢酶活性，该酶可将次黄嘌呤转化为黄嘌呤，并将黄嘌呤转化为尿酸。这些酶的缺乏导致尿液中黄嘌呤水平升高，进而导致尿液中黄嘌呤沉淀，这进一步促使肾结石形成，并最终导致慢性肾脏病和终末期肾病。我们报告了一名23岁男性，因2型黄嘌呤尿症发展至终末期肾病，基因研究证实了这一诊断，该患者后来成功接受了肾移植手术，目前移植肾功能正常，生活正常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/caf6/11326788/7aa044d3819c/IJN-34-4-403-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/caf6/11326788/7aa044d3819c/IJN-34-4-403-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/caf6/11326788/7aa044d3819c/IJN-34-4-403-g1.jpg

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本文引用的文献

1
Xanthinuria type I: a rare cause of urolithiasis.I型黄嘌呤尿症：尿石症的罕见病因。
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3
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects.伴有智力发育迟缓、自闭症、皮质肾囊肿、肾钙质沉着症、骨质减少以及毛发和牙齿缺陷的II型遗传性黄嘌呤尿症。
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4
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)].[血液和尿液中尿酸无法测量；黄嘌呤脱氢酶缺乏症（或遗传性黄嘌呤尿症）]
Rev Med Interne. 1999 May;20(5):445. doi: 10.1016/s0248-8663(99)83100-2.
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Asymptomatic hereditary xanthinuria: a case report.无症状性遗传性黄嘌呤尿症：一例报告。
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