7个月婴儿原发性高血氧血症致终末期肾病1例病例报告

Q4 Medicine Journal of Nephropathology Pub Date : 2023-07-04 DOI:10.34172/jnp.2023.21475

Paniz Pourpashang, Arefeh Zahmatkesh, F. Nili, Zahra Pournasiri, Farzaneh Khosropour

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引用次数: 0

摘要

原发性高草酸尿症(PH)是一种罕见的遗传性代谢性疾病，在终末期肾脏疾病(ESRD)的婴儿中表现严重。在这些患者中，通过积极治疗促进诊断是必不可少的。在这里，我们报告了一例罕见的原发性高草酸尿1型(PH1)的病例，这是一个7个月大的女婴，她接受了透析，未来可能会进行肾移植。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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End stage renal disease due to primary hyperoxaluria in a 7-month infant; a case report

Primary hyperoxaluria (PH) is a rare genetic metabolic disease presented severely in infants with end-stage renal disease (ESRD). Promoting diagnosis with aggressive management is essential in these patients. Here we presented a rare case of primary hyperoxaluria type 1 (PH1) in a seven-month infant girl who underwent dialysis with prospective kidney transplantation in the future.

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来源期刊

Journal of Nephropathology Medicine-Nephrology

CiteScore

1.30

自引率

0.00%

发文量