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

Autor:	Porel R; Department of General Medicine, All India Institute of Medical Sciences - Patna, Patna, India., Kumar A; Department of General Medicine, All India Institute of Medical Sciences - Patna, Patna, India., Ajit S; Department of Pathology and Lab Medicine, All India Institute of Medical Sciences - Patna, Patna, India., Ojha VS; Department of General Medicine, All India Institute of Medical Sciences - Patna, Patna, India., Biswas R; Department of General Medicine, All India Institute of Medical Sciences - Patna, Patna, India ratnadeepbis2404@gmail.com.
Jazyk:	angličtina
Zdroj:	BMJ case reports [BMJ Case Rep] 2024 Mar 07; Vol. 17 (3). Date of Electronic Publication: 2024 Mar 07.
DOI:	10.1136/bcr-2023-258785
Abstrakt:	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. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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