# An Interesting Case of Paroxysmal Nocturnal Hemoglobinuria With Renal Involvement

**Authors:** Shawn Keating, Riddhi Machchhar, Ujjwala Jain, Gabriela Naronowicz, Jordan Lipschutz

PMC · DOI: 10.7759/cureus.63917 · Cureus · 2024-07-05

## TL;DR

This case study presents a young man with paroxysmal nocturnal hemoglobinuria and kidney failure, emphasizing the need for personalized treatment and monitoring.

## Contribution

The novelty lies in highlighting the rare co-occurrence of PNH with renal involvement and the importance of tailored care.

## Key findings

- PNH can lead to complications like renal failure requiring personalized treatment.
- Diagnosis involves genetic testing and flow cytometry for confirmation.
- Management includes therapies like eculizumab and bone marrow transplantation.

## Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon genetic disorder that affects red blood cell production, causing symptoms like fatigue, abdominal pain, and shortness of breath. This condition can also result in dark urine and an increased risk of infections. Diagnosis of PNH involves genetic testing and flow cytometry, which can confirm the presence of the condition. Once a diagnosis is confirmed, personalized treatment plans should be developed to effectively manage the symptoms and improve the patient's quality of life. Treatment options for PNH may include bone marrow transplantation, blood transfusions, and the use of recombinant monoclonal antibody, eculizumab. Regular monitoring is also essential to identify and manage any complications that may arise due to this condition. With proper management and treatment, patients with PNH can lead a healthy and fulfilling life. In this case study, we present a young adult male with PNH who also suffers from renal failure, highlighting the importance of personalized care and ongoing monitoring for this complex condition.

## Linked entities

- **Diseases:** paroxysmal nocturnal hemoglobinuria (MONDO:0100244), renal failure (MONDO:0001106)

## Full-text entities

- **Diseases:** abdominal pain (MESH:D015746), infections (MESH:D007239), fatigue (MESH:D005221), genetic disorder (MESH:D030342), Renal Involvement (MESH:C565423), PNH (MESH:D006457), shortness of breath (MESH:D004417), renal failure (MESH:D051437)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC11298764/full.md

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Source: https://tomesphere.com/paper/PMC11298764