HEMATURIA PAROXISTICA NOCTURNA PDF

Epidemiology and pathogenesis of portal vein thrombosis in adults · Etiology and evaluation of hematuria in adults · Hemolytic anemia due to. Many translated example sentences containing “hemoglobinuria paroxística nocturna” – English-Spanish dictionary and search engine for English translations. Keywords discolored urine, hematuria, hemoglobinuria, myoglobinuria, paroxysmal P. Hemogloninuria paroxistica nocturna: apuntaciones sobre su historia.

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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 hematuri. 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 paroxistlca and treating discolored urine. Discolored urine is a common symptom and presentation in outpatient and inpatient practice.

This article begins with a case presentation, which is followed by a detailed overview of discolored urine and paroxysmal nkcturna hemoglobinuria an easily overlooked parozistica. A woman in her 80s was admitted to an inpatient medical service at a tertiary care medical center in the Boston area with cranberry-colored urine.

Further history revealed intermittent episodes of dark-colored urine for several years.

Paroxysmal nocturnal hemoglobinuria

She had no dysuria or frequency, no abdominal, flank or supra-pubic pain, and no history of kidney stones. She was not a smoker and had no family history of cancers.

Vital signs and physical examination were unremarkable.

Upon further review, there was no evidence of blood in her stools or post-menopausal bleeding. Laboratory data was abnormal, with a hemoglobin of hemahuria. Urine was red paroxistiac cloudy, with a specific gravity of 1. No bacteria, glucose, bilirubin, or urobilinogen were detected. In imaging studies, abdominal and pelvic computed tomography intravenous contrast-enhanced showed multiple renal cysts with no evidence of obstruction.

There was no evidence of solid renal mass and no renal, ureteral, or bladder stones.

Retroperitoneal ultrasound showed normal kidney size and contour, no renal calculi or hydronephrosis, and fullness of the upper pole of the right collecting system that was radiologically consistent with a parapelvic cyst. A survey scan of the bladder was unremarkable. Following the first episode of blood in the urine, she was referred to the urologist with a diagnosis of painless hematuria and had been receiving regular work-up since, including normal cystoscopies and urine cytology.

Evidence of previous episodes April and MarchTable 1 of urinary tract infections UTIs in this patient may explain some of the episodes of blood and RBCs in the urine, but not the persistent findings. Her findings were consistent with hemoglobinuria or myoglobinuria Fig. The patient had no risk factors for developing myoglobinuria Fig.

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Paroxysmal nocturnal hemoglobinuria – Wikipedia

This raises high clinical suspicion for hemoglobinuria Fig. Overview and classification paoxistica discolored urine.

Cause of discolored urine divided into three groups based on the urinalysis. Further evaluation revealed a reticulocyte count of 4. Due to the presence of iron deficiency anemia with a high reticulocyte count and no evidence of hemolysis, blood in the urine with lack of RBCs on repeated urine analysis, hemoglobinuria was suspected as will be discussed later.

The following tests confirmed the diagnosis: Additionally, magnetic resonance imaging MRI of the kidneys showed diminished T1 and T2 weighted signal intensity involving the cortex of both kidneys, which is consistent with iron deposition in the renal cortex. No renal masses or cysts were detected.

The pattern of iron deposition involving only the renal cortex is consistent with PNH.

The patient was managed conservatively with supportive care and frequent blood transfusions. Discolored urine is a common cause for office visits to an internist and referral to a urologist.

It is also one of the most common reasons for urology consultation in hospitalized patients. Discolored urine can occur in various conditions or situations.

One of the common causes of blood in urine among hospitalized patients is catheterization-associated trauma from an indwelling Foley catheter. The term hematuria is commonly misused to describe dark urine.

Causes of discolored urine can be broadly classified into: Hemoglobinuria and myoglobinuria can be difficult to differentiate from hematuria. Detection of blood on the dipstick test and the presence of a proportionate number of RBCs on microscopic urinalysis UA are indicative of hematuria.

If blood is detectable with no or very few microscopically visible RBCs, the presence of pigment, hemoglobin, or myoglobin, in the urine is indicated. However, there may be rare situations when it may be weakly positive for blood. During the dipstick test on a urine sample to evaluate for the presence of blood, the reagent on the test strip detects the presence of pigment in the urine sample. This pigment can be hemoglobin Hb or myoglobin Mb ; other pigments such as bilirubin and urobilinogen are not part of this discussion.

In the past, the presence of intact RBCs in the urine without any free pigment could not be detected using the urine test strip reagent. Hence, one could have a dipstick negative for occult blood but microscopy could be positive for RBC.

Currently, intact RBCs are allowed to lyse while on the test strip for subsequent detection of hemoglobin pigment released from these lysed RBC. The pigment Hb or Mb acts as a catalyst for the oxidation of an indicator by organic peroxide on a test strip. The dipstick bottles have different color coding charts depending on the manufacturer. The dipstick test can give a false-negative result for blood when levels of ascorbic acid are high in the urine.

This is of particular importance for patients taking supplemental vitamin C daily. The test should be conducted after limiting the vitamin C dose for 1—2 days.

The dipstick test can also give false-positive results for blood when the urine sample is contaminated with oxidizing chemicals such as hypochlorites, which may be used in cleaning solutions, bacterial peroxidases released by bacterial colonization in the urine, and menstrual blood in women. Once the dipstick test strip detects the presence of pigment in the urine sample, the next step is to differentiate the type of pigment.

Hb and Mb can be differentiated using an ammonium sulfate test. A mixture of ammonium sulfate and urine sample is centrifuged. Ammonium sulfate precipitates Hb, but not Mb.

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If the supernatant is clear, the pigment is Hb. If the supernatant is red, the pigment is Mb. Alternatively, Hb can be detected using spectrophotometry and Mb by an electrochemiluminescence immunoassay. This amount of blood in the urine can be detected using the urine dipstick test. Intermittent hematuria is not uncommon and may occur as a result of exercise or mild to moderate exertion.

Hematuria can be microscopic or macroscopic.

Hematuria is one of the common reasons for cystoscopic examinations to rule out malignancy in elderly patients. The indications for further urological evaluation in patients with microscopic hematuria have been well-studied but continue to be debated. Mariani et al evaluated the risk-benefit and cost-effectiveness of urological evaluation in patients with asymptomatic microscopic and gross hematuria between and A total of The study concluded, in terms of risk-benefit and cost-effectiveness, ehmaturia or gross asymptomatic hematuria was a significant finding and warranted evaluation.

Further studies have questioned the use of microscopic hematuria as a sole indicator for ruling out malignancy. In a subsequent prospective cohort study of patients with microscopic hematuria, the overall cancer detection rate was only 1.

In this study gross hematuria was found to be a stronger indicator of malignancy. The American Urological Association recommends further urological evaluation starting with a cystoscopy in patients hekaturia any of the following: In contrast, initial evaluation for primary renal disease is recommended for patient with microscopic hematuria along with any of the following: Over the paroxisyica two centuries, PNH has evolved into a clinical syndrome.

He first hypothesized the nocturnal paroxysms of hemoglobinuria as a consequence of erythrocyte lysis secondary to systemic acidosis from CO 2 accumulation during sleep.

Inthe condition was further described by two Italian physicians, Ettore Marchiafava and Alessio Nazari. In the same year, Hijmans-van den Berg, a Dutch physician, first described that red cells from these patients lysed in acidified serum.

The name PNH was coined by Enneking in The condition was further described by Ettore Marchiafava and Ferdinando Micheli PNH is an uncommon acquired clonal disorder characterized by paroxysms of intravascular hemolysis.

It is the result of an acquired somatic mutation of the phosphatidylinositol glycan class A PIG-A gene on the X-chromosome of a hematopoietic stem cell. Approximately 20 such proteins are absent from the red cell membranes of patients with PNH.

The absence of these proteins thus accounts for the increased susceptibility of red cells to complement lysis. Similar mechanism accounts for increased tendency of platelets to abnormally initiate clotting. Primary clinical manifestations of PNH include hemolytic anemia, bone marrow failure, and venous thrombosis. Bone marrow failure problems such as aplastic anemia, myelodysplastic syndromes and myeloproliferative disorders have been shown to be associated with PNH.

Hemolytic anemia in PNH patients is due to complement-mediated intravascular hemolysis. Intravascular hemolysis produces anemia, hemoglobinuria, elevated LDH, elevated reticulocyte count, indirect hyperbilirubinemia, and low haptoglobulin.

Chronic loss of Hb in urine leads to iron-deficiency anemia. In a series of 80 patients with PNH studied by Dacie and Lewis, 35 patients presented with symptoms of anemia, 26 with hemoglobinuria, 18 with hemorrhagic signs and symptoms, 13 with aplastic anemia, 10 with gastrointestinal symptoms, 9 with hemolytic anemia and jaundice, 6 with iron-deficiency anemia or thromboembolism, 5 with infections, and 4 with neurologic signs and symptoms.

Intravascular hemolysis is a pathognomic feature of PNH.