Seorang Pria 21 Tahun dengan Urin Berwarna Gelap

Sebuah Laporan Kasus

  • Joseph Partogi Sibarani Universitas HKBP Nommensen
Keywords: paroxysmal nocturnal haemoglobinuria, haemolytic anemia, Ham test, glucocorticoid

Abstract

First published by Strubing in 1882, Paroxysmal Nocturnal Hemoglobinuria (PNH) is a chronic acquired disorder characterized by the occurrence of intravascular hemolysis and hemoglobinuria which commonly occurs when patients sleep at night, caused by cellular abnormalities due to somatic mutations that cause intrinsic damage on the red blood cell membrane, making it more susceptible to complement lysis. The incidence of PNH varies greatly in various populations and is more common in Southeast Asia. In general, the incidence is estimated to be 1 -1.5 cases / million population. This case is more common in young adults, but can also be found in children and parents. In general the clinical picture of PNH includes symptoms of anemia, hemoglobinia, signs of bleeding, and gastrointestinal complaints. Diagnosis can be determined through blood, urine, bone marrow and cytogenetic examination. We reported the case of a 21-year-old man with complaints of pale face, easy fatigue and tea colored urine in the morning. After several laboratory tests and aspiration of the bone marrow, PNH diagnosis is made. Glucocorticoids used as therapy, and patients are discharged with clinical improvement.

References

1. Ciesla B. Hemolysis. Dalam : Ciesla B (ed). Hematology in Practice. Ed ke-1. F.A.Davis Company. Philadelphia. 2007:51-8.
2. Sedana MP. Paroxysmal Nocturnal Hemoglobinuria (PNH). Dalam : Sudoyo AW, Setiyohadi B, Alwi I, Simadibrata M, Setiati S (eds). Buku Ajar Ilmu Penyakit Dalam. Ed 4. Jakarta. Pusat Penerbitan Dept. Ilmu Penyakit Dalam FK-UI.Jakarta. 2006:675-6.
3. Amin MR. Paroxysmal Nocturnal Hemoglobinuria. Orion Med J 2006; 25:398-9.
4. de Latour RP, Mary J-Y, Salanoubat C, et al. Paroxysmal Nocturnal Hemoglobinuria: Natural History of Disease Subcategories. Blood 2008; 112:3099-106.
5. Luzzatto L, Gianfaldoni G. Recent Advances in Biological and Clinical Aspects of Paroxysmal Nocturnal Hemoglobinuria. Int J Hematol 2006; 84:104-12.
6. Parker C, Omine M, Richards S, et al. Diagnosis and Management of Paroxysmal Nocturnal Hemoglobinuria. Blood 2005; 106:3699-709.
7. Rosse WF, Ware RE. The Molecular Basis of Paroxysmal Nocturnal Hemoglobinuria. Blood 1995; 86:3277-86.
8. Dingli D, Luzzatto L, Pacheco JM. Neutral Evolution in Paroxysmal Nocturnal Hemoglobinuria. PNAS 2008;105(47):18496-500.
9. Krauss JS. Laboratory Diagnosis of Paroxysmal Nocturnal Hemoglobinuria. Ann Clin Laboratory Sci 2003;33(4):401-6.
10. Noji H, Shichishima T, Okamoto M, et al. Microvascular Thrombosis in the Hepatic Vein of Patient with Paroxysmal Nocturnal Hemoglobinuria. Int J Hematol 2007; 86:216-21.
11. Al-Enezi S, Samuel C, Al-Dosary A. Paroxysmal Nocturnal Hemoglobinuria Presenting with Renal Vein Thrombosis and Pulmonary Embolism. Kuwait Med J 2003;35(2):293-5.
12. Granata G, Izzo T, Di Micco P, et al. Thromboembolic Events and Haemotological Diseases: A Case of Stroke as Clinical Onset of Paroxysmal Nocturnal Haemoglobinuria. Thrombosis J 2004; 2:10-3.
13. Brodsky RA. How I Treat Paroxysmal Nocturnal Hemoglobinuria. Blood 2009; 113:6522-7.
14. Tiu R, Maciejewski J. Immune Pathogenesis of Paroxysmal Nocturnal Hemoglobinuria. Int J Hematol 2006; 84:113-7.
15. Charneski L, Patel PN. Eculizumab in Paroxysmal Nocturnal Hemoglobinuria. Drugs 2008; 68(10):1341-6.
16. Dmytrijuk A, Robie-Suh K, Cohen MH, Rieves D, Weiss K, Pazdur R. FDA Report: Eculizumab (SolirisĀ®) for the Treatment of Patients with Paroxysmal Nocturnal Hemoglobinuria. The Oncologist 2008; 13:993-1000.
17. Hill A. Management of Paroxysmal Nocturnal Hemoglobinuria. Haematologica 2011; 96(1):8-12.
18. Xu W, Li JY, Wang L, Yu H, Zhang SJ, Sheng RL. Succesful Application of Nonmyeloablative Stem Cell Transplantation for Paroxysmal Nocturnal Hemoglobinuria. Chin Med J 2007; 120(22):2056-8.
Published
2019-08-20
How to Cite
Sibarani, J. P. (2019). Seorang Pria 21 Tahun dengan Urin Berwarna Gelap. Nommensen Journal of Medicine, 5(1), 19-23. https://doi.org/https://doi.org/10.36655/njm.v5i1.82