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以肠道吸收不良综合征、急腹症和急性肾损伤为表现的典型阵发性夜间血红蛋白尿。

Classic paroxysmal nocturnal haemoglobinuria presenting with intestinal malabsorption syndrome, acute abdomen and acute kidney injury.

作者信息

Porel Rajdeep, Kumar Anjani, Ajit Surabhi, Ojha Vishnu Shankar, Biswas Ratnadeep

机构信息

Department of General Medicine, All India Institute of Medical Sciences - Patna, Patna, India.

Department of Pathology and Lab Medicine, All India Institute of Medical Sciences - Patna, Patna, India.

出版信息

BMJ Case Rep. 2024 Mar 7;17(3):e258785. doi: 10.1136/bcr-2023-258785.

Abstract

A male patient in his 30s presented with complaints of acute abdominal pain, black stools and red-coloured urine. CT revealed thrombi in the splenic and left renal veins, leading to infarctions. An endoscopy displayed scalloping of the duodenal folds, indicative of intestinal malabsorption syndrome (IMS). Histopathological examination confirmed IMS. Due to the presence of intravascular haemolysis, haemoglobinuria and thrombotic complications, paroxysmal nocturnal haemoglobinuria (PNH) was suspected and subsequently confirmed by flow cytometry. Thus, a diagnosis of classic PNH with IMS and thrombotic complications was established. This unique case highlights the coexistence of PNH and IMS, resembling the complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy disease, suggesting potential shared pathophysiology.

摘要

一名30多岁的男性患者出现急性腹痛、黑便和血尿症状。CT显示脾静脉和左肾静脉有血栓形成,导致梗死。内镜检查显示十二指肠皱襞呈扇形,提示肠道吸收不良综合征(IMS)。组织病理学检查确诊为IMS。由于存在血管内溶血、血红蛋白尿和血栓形成并发症,怀疑为阵发性夜间血红蛋白尿(PNH),随后通过流式细胞术得以确诊。因此,确诊为伴有IMS和血栓形成并发症的经典型PNH。这一独特病例突出了PNH与IMS的共存,类似于补体过度激活、血管性血栓形成和蛋白丢失性肠病,提示可能存在共同的病理生理学机制。

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本文引用的文献

4
Paroxysmal nocturnal hemoglobinuria.阵发性睡眠性血红蛋白尿症。
Blood. 2014 Oct 30;124(18):2804-11. doi: 10.1182/blood-2014-02-522128. Epub 2014 Sep 18.

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