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甲基丙二酸血症中的肾小管间质性肾炎

Tubulointerstitial nephritis in methylmalonic acidemia.

作者信息

Rutledge S L, Geraghty M, Mroczek E, Rosenblatt D, Kohout E

机构信息

Department of Pediatrics, University of Alabama, Birmingham.

出版信息

Pediatr Nephrol. 1993 Feb;7(1):81-2. doi: 10.1007/BF00861581.

DOI:10.1007/BF00861581
PMID:8439488
Abstract

We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the total of such reported cases to four. In addition, hypertension, observed in one of our patients, has not been previously reported as the presentation of renal disease in MMA. The etiology of interstitial nephritis in MMA did not appear to be due to urate nephropathy. To date, 15 patients with MMA have been reported with renal complications, including chronic renal failure, making it imperative that children with MMA have their renal status evaluated.

摘要

我们报告了两名甲基丙二酸血症(MMA)患者,其肾活检显示为间质性肾炎,使此类报告病例总数达到4例。此外,我们其中一名患者出现的高血压,此前尚未有作为MMA肾脏疾病表现的相关报道。MMA中间质性肾炎的病因似乎并非尿酸盐肾病所致。迄今为止,已有15例MMA患者被报道出现肾脏并发症,包括慢性肾衰竭,因此对MMA患儿进行肾脏状况评估势在必行。

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Tubulointerstitial nephritis in methylmalonic acidemia.甲基丙二酸血症中的肾小管间质性肾炎
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2
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The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria.代谢应激源对甲基丙二酸尿症肾上皮细胞模型中线粒体动态平衡的影响。
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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.甲基丙二酸血症和丙酸血症的诊断和管理指南:第一版修订。
J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9.
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Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.

本文引用的文献

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Proximal renal tubular acidosis in methylmalonic acidemia.甲基丙二酸血症中的近端肾小管酸中毒
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Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.甲基丙二酸血症:一种影响肾脏的巨线粒体疾病。
Pediatr Nephrol. 2014 Nov;29(11):2139-46. doi: 10.1007/s00467-014-2847-y. Epub 2014 May 28.
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Renal growth in isolated methylmalonic acidemia.孤立性甲基丙二酸血症患儿的肾脏生长情况。
Genet Med. 2013 Dec;15(12):990-6. doi: 10.1038/gim.2013.42. Epub 2013 May 2.
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Renal transplantation in a boy with methylmalonic acidaemia.男孩甲基丙二酸血症的肾移植。
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Progressive renal insufficiency in methylmalonic acidemia.
甲基丙二酸血症中的进行性肾功能不全。
Pediatr Nephrol. 1991 May;5(3):323-6. doi: 10.1007/BF00867492.
5
Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.甲基丙二酸血症:对维生素B12治疗无反应的两种变异型的6年临床经验。
Can Med Assoc J. 1979 May 19;120(10):1230-5.