Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.

IF 2.2 4区 医学 Q2 UROLOGY & NEPHROLOGY BMC Nephrology Pub Date : 2024-10-10 DOI:10.1186/s12882-024-03774-w
Daorina Bao, Hongyu Yang, Yanqi Yin, Suxia Wang, Yang Li, Xin Zhang, Tao Su, Rong Xu, Chunyue Li, Fude Zhou
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Abstract

Background: Mutation of MMACHC gene causes cobalamin C disease (cblC), an inherited metabolic disorder, which presents as combined methylmalonic aciduria (MMA-uria) and hyperhomocysteinaemia in clinical. Renal complications may also be present in patients with this inborn deficiency. The most common histological change is thrombotic microangiopathy (TMA). However, to our acknowledge, renal tubular injury in the late-onset presentation of cblC is rarely been reported. This study provides a detailed description of the characteristics of kidney disease in cblC deficiency, aiming to improve the early recognition of this treatable disease for clinical nephrologists.

Case presentation: Here we described three teenage patients who presented with hematuria, proteinuria, and hypertension in clinical presentation. They were diagnosed with renal involvement due to cblC deficiency after laboratory tests revealing elevated serum and urine homocysteine, renal biopsy showing TMA and tubular injury, along with genetic testing showing heterogeneous compound mutations in MMACHC. Hydroxocobalamin, betaine, and L-carnitine were administered to these patients. All of them got improved, with decreased homocysteine, controlled blood pressure, and kidney outcomes recovered.

Conclusions: The clinical diagnosis of cblC disease associated with kidney injury should be considered in patients with unclear TMA accompanied by a high concentration of serum homocysteine, even in teenagers or adults. Early diagnosis and timely intervention are vital to improving the prognosis of cobalamin C disease.

Clinical trial number: Not applicable.

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钴胺 C 病晚期肾 TMA 和肾小管损伤:三例病例报告和文献综述。
背景:MMACHC 基因突变导致钴胺 C 病(cblC),这是一种遗传性代谢紊乱,临床表现为合并甲基丙二酸尿症(MMA 尿症)和高半胱氨酸血症。这种先天性缺陷患者还可能出现肾脏并发症。最常见的组织学变化是血栓性微血管病(TMA)。然而,据我们所知,cblC晚期发病时出现肾小管损伤的报道并不多见。本研究详细描述了 cblC 缺乏症肾脏疾病的特征,旨在提高临床肾病学家对这种可治疗疾病的早期识别能力:我们在此描述了三名青少年患者,他们临床表现为血尿、蛋白尿和高血压。实验室检查显示血清和尿液同型半胱氨酸升高,肾活检显示TMA和肾小管损伤,基因检测显示MMACHC存在异质性复合突变,之后他们被诊断为cblC缺乏导致的肾脏受累。这些患者服用了羟钴胺、甜菜碱和左旋肉碱。所有患者的病情都得到了改善,同型半胱氨酸降低,血压得到控制,肾脏功能也得到恢复:结论:即使是青少年或成年人,如果 TMA 不明确,同时血清同型半胱氨酸浓度较高,则应考虑 cblC 疾病伴肾损伤的临床诊断。早期诊断和及时干预对改善钴胺 C 病的预后至关重要:临床试验编号:不适用。
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来源期刊
BMC Nephrology
BMC Nephrology UROLOGY & NEPHROLOGY-
CiteScore
4.30
自引率
0.00%
发文量
375
审稿时长
3-8 weeks
期刊介绍: BMC Nephrology is an open access journal publishing original peer-reviewed research articles in all aspects of the prevention, diagnosis and management of kidney and associated disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
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