Rol de la hematuria dismórfica en las enfermedades gomerulares / Role of urinary dysmorphic red blood cells in glomerular disease

INTRODUCCIÓN: El sedimento de orina es una herramienta en la práctica clínica empleada desde hace muchos años para la evaluación de enfermedades renales. La detección de hematuria dismórfica es útil en el diagnóstico de enfermedades glomerulares. OBJETIVOS: Agrupar las hematurias dismórficas en los casos con presencia de acantocitos y los que no los presentan, y correlacionar estos dos grupos con los hallazgos histológicos de las biopsias renales. MATERIAL Y MÉTODOS: Estudio observacional, retrospectivo y analítico. Se incluyeron los sedimentos de orina de 276 pacientes. Se analizaron dos grupos de hematuria dismórfica: D1 (presencia de acantocitos) y D2 (sin acantocitos), y se correlacionó con los hallazgos histológicos de la biopsia renal (glomerulopatías proliferativas y no proliferativas). Se analizaron los diferentes elementos formes de la orina (cilindros hemáticos, leucocitarios, céreos, granulosos, grasos), la creatinina plasmática y la proteinuria de 24 hs en los dos grupos de glomerulopatías. Posteriormente se realizó una regresión logística para evaluar las variables independientes entre los hallazgos del sedimento de orina, con los correspondientes odds ratio (OR) e intervalos de confianza (IC 95%). RESULTADOS: Se contó con 172 muestras provenientes de mujeres (62.3%) y 104 de hombres (37,7%). La presencia de acantocitos (D1) en las enfermedades glomerulares proliferativas (GP) fue 17 veces más frecuente comparada con las no proliferativas (GNP) OR 17.7 IC 95% (9.6-32.5) p 0.001. La presencia de cilindros hemáticos es ocho veces más frecuente en las GP OR 8 IC 95% (3.1-20.9). Los pacientes con hematuria no acantocitica (D2) es 5 veces más frecuente en una GNP OR 5.2 IC (2.4-11.3) p 0,001. La presencia de cilindros grasos fue más frecuente en los pacientes con GNP a diferencia de los cilindros leucocitarios, cuya frecuencia fue mayor en la GP. CONCLUSIONES: La presencia de hematuria dismórfica no acantocitica (D2) se correlacionó en la histología renal con la presencia de glomerulopatías no proliferativas (GNP) en forma significativa, a diferencia de la hematuria acantocitica y cilindros hemáticos que se observaron en glomerulopatías proliferativas, por lo tanto se considera una herramienta útil para poder diferenciar clínicamente estos dos grupos, sin remplazar la biopsia renal para el diagnóstico preciso y el pronóstico

INTRODUCTION: The analysis of urine sediment is a tool that has been used for many years in clinical practice to evaluate kidney diseases. Detecting dysmorphic red blood cells (RBC's) in urine is useful for the diagnosis of glomerular diseases. OBJECTIVES: To divide the cases of glomerular hematuria into two groups, depending on the presence or absence of acanthocytes, and to compare this factor with the histological findings of renal biopsies. METHODS: In this observational, retrospective, analytical study, urine sediments of 276 patients were included. Two groups of subjects with glomerular hematuria were analyzed: D1 (presence of acanthocytes) and D2 (absence of acanthocytes). The results were compared with the renal biopsy histological findings, i.e. proliferative glomerulonephritis and non-proliferative glomerulonephritis, considered separately. The formed elements of the urine (red blood cell, white blood cell, waxy, granular and fatty casts), plasma creatinine concentration and 24-hour urinary protein were tested in the two groups. A logistic regression analysis was later performed to assess the independent variables among urine sediment findings, with the corresponding odds ratio (OR) and confidence intervals (CI 95%). RESULTS: The samples were collected from 172 women (62.3 %) and 104 men (37.7 %). The presence of acanthocytes (D1) was 17 times more frequent in proliferative glomerulonephritis (PGN) than in non-proliferative glomerulonephritis (NPGN) [OR 17.7, CI 95% (9.6-32.5), p 0.001]. The presence of red blood cell casts was 8 times more frequent in PGN [OR 8, CI 95% (3.1-20.9)]. Cases of hematuria with no acanthocytes (D2) were 5 times more frequent in NPGN [OR 5.2, CI (2.4-11.3), p 0.001]. Fatty casts appeared more frequently in patients with NPGN, whereas white blood cell casts were more common in PGN cases. CONCLUSIONS: Renal histological findings revealed a significant correlation between glomerular hematuria without acanthocytes (D2) and non-proliferative glomerulonephritis (NPGN), while the presence of acanthocytes and red blood cell casts was associated with proliferative glomerulonephritis (PGN). The existence of acanthocytes in urine constitutes a useful tool to make a clinical distinction between these two conditions, but it does not replace renal biopsy to establish an accurate diagnosis and prognosis

Abetalipoproteinemia in a Saudi infant

Abetalipoproteinemia is a rare genetic disorder. A 5-month-old Saudi boy presented with chronic diarrhoea and failure to thrive since 3 months of age. He was cachectic. His peripheral blood picture showed many acanthocytes and he had very low lipid profile. He improved on medium chain triglyceride [MCT] formula and administration of fat soluble vitamins

Avaliação comparativa da sedimentoscopia urinária realizada pelo nefrologista e pelo profissional de análises clínicas em pacientes com glomerulopatias / Comparative assessment of urinary sediment done by the nephrologist and by the clinical analyst professional in patients with glomerulonephritis

Introdução: A sedimentoscopia urinária com microscópio munido com contraste de fase (MCF) deveria ser a primeira etapa na determinação da origemdas hematúrias. Objetivo: Avaliar discrepâncias nas descrições dos parâmetros urinários relacionados à origem das hematúrias, comparando as descrições do nefrologista (Nef) e do profissional de análises clínicas (PAC). Métodos: Urinas de pacientes com glomerulopatias (GP) confirmadas por biópsia renal foram analisadas sob MCF, por um Nef e um PAC, ambos sem conhecimento prévio da origem das amostras. Cilindros hemáticos, acantocitúria ou células G1 >5% e dismorfismo eritrocitário foram utilizados na localização glomerular das hematúrias. Resultados: Dos 28 pacientes, 13 pacientes (46,4%) apresentavam glomerulonefrites não proliferativas e 15 (53,6%) glomerulonefrites proliferativas. Comparativamente ao PAC, o Nef identificou maior número de hemácias (mediana/mL de urina, 80.000 vs 4.800, p=0,001), maior número de cilindros hemáticos (39,3% vs 0%, p=0,001), maior freqüência de acantocitúria ou células G1 >5% (35,7% vs. 7,14%, p=0,021) e de dismorfismo eritrocitário (96,2% vs 7,14%, p<0,001). As discrepâncias dos resultados permaneceram após a separação das glomerulopatias em proliferativas e não proliferativas. Conclusão: Os parâmetros urinários que caracterizam a origem da hematúria foram mais freqüentemente identificados pelo nefrologista e sugerem que a urinálise, pela sua simplicidade e grande valor informativo, deveria ser incluída obrigatoriamente nos programas de treinamento em nefrologia.

Introduction: In the assessment of hematuria, the first step should be the identification of the origin of the bleeding, which can be done easily by analyzing the urine under phase-contrast microscopy. Obective: To assess the discrepancy of reports of the urinary parameters utilized in the localization of the glomerular origin of hematuria, comparing reports by the nephrologists and by the clinical laboratory technologist. Methods: Urines of patients with biopsy proven glomerulonephritis were assessed under phase-contrast microscopy by a nephrologist and a clinical laboratory technologist, both without previous knowledge of the origin of the samples. Red blood cell (RBC) casts, urinary acanthocytes or G1 cells >5%, and erithrocyte dysmorphism were used tolocalize the glomerular bleeding. Results: Among 28 patients, 13 (46.4%) had non proliferative glomerulonephritis and 15 (53.6%) had proliferative glomerulonephritis. Relatively to the clinical laboratory technologist, the nephrologist identified more RBC (median of 80.000 vs 4.800, p= 0.001), more RBC casts (39.3% vs 0%, p=0.001), more urinary acanthocytes or G1 cells >5% (35.7% vs 7.14%, p=0.021) and more dysmorphic RBC (96.2% vs 7.14%,p<0.001). The discrepancies of the reports were maintained after the separation of the glomerulonephritis in proliferative and non proliferative. Conclusion: The urinary parameters used in characterization of the origin of the hematuria were more frequently identified by the nephrologist, and suggest that the urinalysis, a simple and very informative test, should be mandatory in programs of training in nephrology.

Differentiation of glomerular from non-glomerular hematuria by three different methods of microscopic examinations of erythrocytes in urine

Morphological examinations of urinary erythrocytes can be of diagnostic value in initial evaluation of hematuria. Dysmorphic urinary red blood cells are known to indicate a glomerular origin of bleeding. We examined the clinical usefulness of this test in a population complained of hematuria by use of three different light microscopy, phase contrast microscopy, and Wright staining and compared their sensitivity and specificity. The study included 169 patients with hematuria [89 glomerular and 80 non-glomerular]. The urine specimens were collected before invasive procedures such as biopsy and cystoscopy. In each urine sample, 100 urinary erythrocytes were examined. Statistical analysis was performed using Student's t test, correlation coefficient, and x. Reliability parameters including sensitivity, specificity and predictive values of negative and positive tests were also evaluated. Dysmorphic red cells were recorded as acanthocytes, doughnut-like cells, yeast like cells with more than one blebs and ghost forms. Isomorphic erythrocytes had uniform size and shape. Significant difference was found in the number of urinary dysmorphic red cells between the two groups of patients. Statistical analysis showed that by using percentage of glomerular type erythrocytes and setting the cut-off at 20-25%, the specificity for three procedures was almost the same [? 97.5%]. But sensitivity for light microscopy, phase contrast microscopy, and Wright staining was in different ranges as 70.7%, 89.8%, and 86.5% respectively. It was concluded that with some limitations, these simple, non-invasive techniques were useful in identifying the source of bleeding in the work up of hematuria by considering that sensitivity of the methods were in the order of phase contrast microscopy, Wright staining, and light microscopy

ß-Spectrin Säo PauloII, a novel frameshift mutation of the ß-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA

Hereditary spherocytosis (HS) is a common inherited anemia characterized by the presence of spherocytic red cells. Defects in several membrane protein genes have been involved in the pathogenesis of HS. ß-Spectrin-related HS seems to be common. We report here a new mutation in the ß-spectrin gene coding region in a patient with hereditary spherocytosis. The patient presented acanthocytosis and spectrin deficiency and, at the DNA level, a novel frameshift mutation leading to HS, i.e., a C deletion at codon 1392 (ß-spectrin Säo PauloII), exon 20. The mRNA encoding ß-spectrin Säo PauloII was very unstable and the mutant protein was not detected in the membrane or in other cellular compartments. It is interesting to note that frameshift mutations of the ß-spectrin gene at the 3' end allow the insertion of the mutant protein in the red cell membrane, leading to a defect in the auto-association of the spectrin dimers and consequent elliptocytosis. On the other hand, ß-spectrin Säo PauloII protein was absent in the red cell membrane, leading to spectrin deficiency, HS and the presence of acanthocytes

Neuroacantocitose: relato de caso / Neuroacanthocytosis: a case report

Relatamos o caso de um paciente de 45 anos com neuroacantocitose. O paciente apresenta crises parciais complexas como automatismos e crises generalizadas tônico-clônicas, assim com distúrbios do movimento caracterizados por coréia do tronco e membros superiores, e discinesia orofacial. Os exames complementares revelam acantocitose de 11 por cento, eletrencefalograma com foco irritativo no lobo temporal direito, creatino fosfoquinase sérica de 101 U/L e imagem de ressonância magnética com redução volumétrica e hiper-intensidade do sinal no núcleo caudado e putâmen bilateralmente.

A Familial Case of Choreoacanthocytosis

We have experienced a family case of 3 sisters in whom the proband showed a complete form of the choreo-acanthosytosis. 439-year-old female proband was admitted because of frequent seizures. She was alert, well-oriented, and had no gross memory defects. She had slurred speech, choreic movements of chin. Deep tendon reflexes on the both lower extremities were decreased. Laboratory examination showed acanthocytes in her peripheral red blood cells, normal serum lipid values, increased creatine-phosphokinase levels and bilateral caudate atrophy on her brain CT scan. Electrophysiological data were consistent with lower motor neuron dysfunction. Another 33-year-old sister with frequent seizures and psychic problems also showed acanthocytosis. The other 36-year-old sister has been treated under the diagnosis of schizophrenia for 10 years, not showing acanthocytosis.

Neuroacanthocytosis: 2 Cases of Familial Choreoacanthocytosis

Neuroacanthocytosis is a rare dosorder characterized by various neurological manifestations and the presence of abnormal red blood cells called acanthocytes which have a disturbed morphology showing spiky, knobby end projections. Acanthocytosis associated with neurological involvements includes 3 major syndromes ; Bassen-Korzweig syndrome, choreoacanthocytosis (or Levine-Critchley syndrome), and Mcleod syndrome. Here, we report two cases of familial choreoacanthocytosis. A 40 years old man presented with orofacial dyskinesia, involuntary vocalization, dysarthria, dysphagia, generalized choreic movements, hyporef lexia, and amyotrophy of the bilarteral anterior tibilais muscles. Serum creatine phosphokinase was increased. Scanning electronmicroscopic examination of the fresh peripheral blood smear film showed acanthocytes, corresponding to about 6% of all red blood cells. His one of two daughter had high arched foot, bradykinesia, and hypoactive deep tendon reflexes. A 70 years old woman showed head and hand tremor, bilateral eye brow choreic movements, torticollis and bradykinesia. Her mother and two younger sisters had head termor. Serum creatine phosphokinase level was normal. Scanning electronmicroscopic examination of the fresh peripheral blood smear showed acnthocytes, corresponding to 9% of the examined red blood cells.

Effect of Allium ascalonicum on erythrocyte shape in induced hypercholesterolemia rabbits.

The effect of shallot extract on blood lipid levels and erythrocyte shape has been studied in rabbits. Hypercholesterolemia was induced by feeding egg yolk 12.5 g per day for 4 weeks. These rabbits were then divided into 3 groups and were fed with egg yolk alone as control group, egg yolk plus clofibrate 75 mg per day and egg yolk plus 50 g of fresh shallot extract per day respectively. Blood samples were collected from the ear artery every two weeks for evaluating lipid levels and studying morphology of erythrocytes. The abnormal erythrocyte shape (crenation) was strikingly observed in all groups after four weeks of egg yolk feeding with good correlation to lipid levels (r = 0.9, p less than 0.001). The number of crenated erythrocytes decreased continuously by shallot extract from the second week until the eighth week of treatment. This restoring effect could not be seen in the control and clofibrate groups. Lipids levels in all 3 groups did not decrease significantly. This leads to the assumption that there might be some factors other than the lipid-lowering-effect in shallot extract that protect the erythrocyte membrane from deterioration due to high plasma lipid levels.