揭开原发性高草酸尿症 1 型的面纱：通过骨髓活检偶然发现。

IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Oxford Medical Case Reports Pub Date : 2024-10-26 eCollection Date: 2024-10-01 DOI:10.1093/omcr/omae128

Taha Yassine Aaboudech, Kaoutar Znati, Ahmed Jahid, Samia Sassi, Salima Driouich, Fouad Zouaidia, Zakia Bernoussi

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引用次数: 0

摘要

本文详细介绍了一例罕见的原发性高草酸尿症 1 型（PH1）病例，患者为 46 岁女性，有肾结石和慢性肾衰竭病史，通过骨髓活检发现了该病。基因分析发现 AGXT 基因中存在 p.Ile244Thr 突变，从而确诊为 PH1。本文旨在重点介绍这一病例，重点是该疾病的遗传基础，包括已发现的突变。它强调了早期诊断婴幼儿肾炎的重要性，尤其是对有家族史的病例，以防止肾功能丧失和全身性草酸盐中毒。

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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Unveiling primary Hyperoxaluria type 1: a fortuitous discovery through bone marrow biopsy.

This paper details a rare case of primary hyperoxaluria type 1 (PH1) identified through a bone marrow biopsy in a 46-year-old female patient with a history of nephrolithiasis and chronic renal failure. Genetic analysis identified the p.Ile244Thr mutation in the AGXT gene, confirming the diagnosis of PH1. The paper aims to highlight this case, focusing on the genetic basis of the disorder, including the identified mutation. It underscores the importance of early diagnosis of infantile and childhood nephrolithiasis, particularly in cases with familial history, to prevent renal loss and systemic oxalosis.

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来源期刊

Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-

CiteScore

0.90

自引率

0.00%

发文量

125

审稿时长

19 weeks

期刊介绍： Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.