Bone Marrow Failure in Paroxysmal Nocturnal Hemoglobinuria

Latour, Régis Peffault de; Risitano, Antonio M.

doi:10.1016/b978-0-12-804152-9.00014-2

Cited by 1 publication

(2 citation statements)

References 69 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PNH is a rare clonal haematologic disorder caused by a somatic mutation in the PIGA gene located on the Xp22.2 chromosome 17 , leading to a deficiency of GPI anchor proteins in the blood cells rendering the cells susceptible to complement-mediated lysis 4 . The clinical manifestations of PNH are characterised by a triad of features: haemolytic anaemia, thrombosis, and impaired bone marrow function 18 .…”

Section: Discussionmentioning

confidence: 99%

“…Paroxysmal nocturnal hemoglobinuria(PNH) is a rare, life-threatening disease condition of the blood caused by the acquired mutation of X-linked PIGA (phosphatidylinositol glycan anchor biosynthesis, class A) gene, which codes for glycosylphosphatidylinositol (GPI) anchored proteins of blood cells 1 – 3 . The deficiency of GPI-anchored proteins causes complement-mediated destruction of red cells, thromboembolic events, bone marrow dysfunction and cytopenia 4 , 5 . It has an estimated occurrence of 15.9 individuals per million worldwide 6 .…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Candida krusei pneumonia in graft-versus-host disease after allogeneic hematopoietic stem cell transplant for paroxysmal nocturnal hemoglobinuria: a case report

Zoowa,

Shah,

Pradhan

et al. 2023

Annals of Medicine &Amp; Surgery

View full text Add to dashboard Cite

Introduction and Importance: PNH is a rare disorder caused by a somatic mutation of PIGA gene that leads to the destruction of blood cells. Allogeneic HSCT is a treatment option for PHN, but it can cause GVHD .Long term immunosuppression as a treatment of GVHD increases the risk for IFIs such as Candida krusei pneumonia. Case Presentation: We present the case of a 22 year old male with Candida krusei pneumonia in a known case of chronic GVHD following HSCT for PNH undergoing long term immunosuppressive therapy. The patient presented with progressive shortness of breath, productive cough, palpitations, and difficulty swallowing. On examination, he had skin rashes and oral lesions, along with signs of severe malnutrition. Diagnosis was made on the basis of radiological imaging and fungal culture. Discussion: The combination of PNH, GVHD, and HSCT created an immunocompromised state, making the patient susceptible to opportunistic infections, including fungal pneumonia. Early recognition of this condition is challenging due to its non-specific symptoms and potential overlap with other post-transplant complications. Timely diagnosis and appropriate treatment, including antifungal therapy and immunosuppression management, are crucial for optimising patient outcomes. Conclusion: This case highlights the importance of early recognition and timely treatment of fungal infections in patients with severe conditions such as GVHD following HSCT for PNH. Timely treatment with appropriate anti-fungals is necessary for optimal outcome. Additionally, more research with long term follow-up and monitoring is necessary to address the necessary knowledge gaps in this field.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%