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Hemoglobinuria misidentified as hematuria: review of discolored urine and paroxysmal nocturnal hemoglobinuria.

Veerreddy P - Clin Med Insights Blood Disord (2013)

Bottom Line: This can be easily confused with other common causes of discolored urine and result in extensive urologic work-up.Her hemoglobinuria was misdiagnosed as hematuria, leading to extensive urologic work-up.The article also gives an overview of the approach to diagnosing and treating discolored urine.

View Article: PubMed Central - PubMed

Affiliation: Assistant Professor of Medicine, Department of Medicine, UMass Memorial Medical Center, Worcester, MA.

ABSTRACT
Discolored urine is a common reason for office visits to a primary care physician and urology referral. Early differentiation of the type or cause of discolored urine is necessary for accurate diagnosis and prompt management. Paroxysmal nocturnal hemoglobinuria is a clonal disorder caused by acquired somatic mutations in the PIG-A gene on the X- chromosome of hemopoietic stem cells and leads to deficiency of surface membrane anchor proteins. The deficiency of these proteins leads to an increased risk of hemolysis of erythrocytes and structural damage of platelets, resulting in a clinical syndrome characterized by complement-mediated intravascular hemolytic anemia, bone marrow failure, and venous thrombosis. Patients with this clinical syndrome present with paroxysms of hemolysis, causing hemoglobinuria manifesting as discolored urine. This can be easily confused with other common causes of discolored urine and result in extensive urologic work-up. Three commonly confused entities of discolored urine include hematuria, hemoglobinuria, and myoglobinuria. Specific characteristics in a dipstick test or urinalysis can guide differentiation of these three causes of discolored urine. This article begins with a case summary of a woman presenting with cranberry-colored urine and a final delayed diagnosis of paryxysmal nocturnal hemoglobinuria. Her hemoglobinuria was misdiagnosed as hematuria, leading to extensive urologic work-up. The article also gives an overview of the approach to diagnosing and treating discolored urine.

No MeSH data available.


Related in: MedlinePlus

Pathogenesis and clinical manifestations of PNH.Abbreviations: PNH, Paroxysmal nocturnal hemoglobinuria; PIG-A gene, Phatidylinositol glycan class A gene; PLTs, Platelets; NO, Nitric oxide; GPI-AP, Glycosylphosphatidylionositol anchor proteins.
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Related In: Results  -  Collection


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f5-cmbd-6-2013-007: Pathogenesis and clinical manifestations of PNH.Abbreviations: PNH, Paroxysmal nocturnal hemoglobinuria; PIG-A gene, Phatidylinositol glycan class A gene; PLTs, Platelets; NO, Nitric oxide; GPI-AP, Glycosylphosphatidylionositol anchor proteins.

Mentions: Intravascular hemolysis is a pathognomic feature of PNH. Red cell lysis releases Hb into the plasma, where it binds to haptoglobin (hence the low or undetectable levels of haptoglobin.) Once the haptoglobin-binding capacity of plasma is exceeded, free Hb can be detected in the plasma. Free Hb circulates as a tetramer, ultimately breaking down into dimers. The Hb dimers are filtered through the glomerular membrane in kidney. In the proximal tubules, Hb is reabsorbed and catabolized into heme iron and attached to the storage proteins ferritin and hemosiderin. Hemosiderin can spill into the urine and can be detected by the Prussian blue reaction. Once the reabsorptive capacity of proximal tubules is exceeded, Hb is excreted into the urine, which is known as hemoglobinuria17 (Fig. 5). Hemoglobinuria can be intermittent and is a clonal disorder. The bone marrow produces abnormal clones mixed with normal clones of hemopoietic cells. The persistence and severity of signs and symptoms depends on the size of the abnormal clones (Fig. 5).


Hemoglobinuria misidentified as hematuria: review of discolored urine and paroxysmal nocturnal hemoglobinuria.

Veerreddy P - Clin Med Insights Blood Disord (2013)

Pathogenesis and clinical manifestations of PNH.Abbreviations: PNH, Paroxysmal nocturnal hemoglobinuria; PIG-A gene, Phatidylinositol glycan class A gene; PLTs, Platelets; NO, Nitric oxide; GPI-AP, Glycosylphosphatidylionositol anchor proteins.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4222305&req=5

f5-cmbd-6-2013-007: Pathogenesis and clinical manifestations of PNH.Abbreviations: PNH, Paroxysmal nocturnal hemoglobinuria; PIG-A gene, Phatidylinositol glycan class A gene; PLTs, Platelets; NO, Nitric oxide; GPI-AP, Glycosylphosphatidylionositol anchor proteins.
Mentions: Intravascular hemolysis is a pathognomic feature of PNH. Red cell lysis releases Hb into the plasma, where it binds to haptoglobin (hence the low or undetectable levels of haptoglobin.) Once the haptoglobin-binding capacity of plasma is exceeded, free Hb can be detected in the plasma. Free Hb circulates as a tetramer, ultimately breaking down into dimers. The Hb dimers are filtered through the glomerular membrane in kidney. In the proximal tubules, Hb is reabsorbed and catabolized into heme iron and attached to the storage proteins ferritin and hemosiderin. Hemosiderin can spill into the urine and can be detected by the Prussian blue reaction. Once the reabsorptive capacity of proximal tubules is exceeded, Hb is excreted into the urine, which is known as hemoglobinuria17 (Fig. 5). Hemoglobinuria can be intermittent and is a clonal disorder. The bone marrow produces abnormal clones mixed with normal clones of hemopoietic cells. The persistence and severity of signs and symptoms depends on the size of the abnormal clones (Fig. 5).

Bottom Line: This can be easily confused with other common causes of discolored urine and result in extensive urologic work-up.Her hemoglobinuria was misdiagnosed as hematuria, leading to extensive urologic work-up.The article also gives an overview of the approach to diagnosing and treating discolored urine.

View Article: PubMed Central - PubMed

Affiliation: Assistant Professor of Medicine, Department of Medicine, UMass Memorial Medical Center, Worcester, MA.

ABSTRACT
Discolored urine is a common reason for office visits to a primary care physician and urology referral. Early differentiation of the type or cause of discolored urine is necessary for accurate diagnosis and prompt management. Paroxysmal nocturnal hemoglobinuria is a clonal disorder caused by acquired somatic mutations in the PIG-A gene on the X- chromosome of hemopoietic stem cells and leads to deficiency of surface membrane anchor proteins. The deficiency of these proteins leads to an increased risk of hemolysis of erythrocytes and structural damage of platelets, resulting in a clinical syndrome characterized by complement-mediated intravascular hemolytic anemia, bone marrow failure, and venous thrombosis. Patients with this clinical syndrome present with paroxysms of hemolysis, causing hemoglobinuria manifesting as discolored urine. This can be easily confused with other common causes of discolored urine and result in extensive urologic work-up. Three commonly confused entities of discolored urine include hematuria, hemoglobinuria, and myoglobinuria. Specific characteristics in a dipstick test or urinalysis can guide differentiation of these three causes of discolored urine. This article begins with a case summary of a woman presenting with cranberry-colored urine and a final delayed diagnosis of paryxysmal nocturnal hemoglobinuria. Her hemoglobinuria was misdiagnosed as hematuria, leading to extensive urologic work-up. The article also gives an overview of the approach to diagnosing and treating discolored urine.

No MeSH data available.


Related in: MedlinePlus