ABSTRACT
INTRODUCTION: New generation osmotic gradient ektacytometry has become a powerful procedure for measuring red blood cell deformability and therefore for the diagnosis of red blood cell membrane disorders. In this study, we aim to provide further support to the usefulness of osmotic gradient ektacytometry for the differential diagnosis of hereditary spherocytosis by measuring the optimal cutoff values of the parameters provided by this technique. METHODS: A total of 65 cases of hereditary spherocytosis, 7 hereditary elliptocytosis, 3 hereditary xerocytosis, and 171 normal controls were analyzed with osmotic gradient ektacytometry in addition to the routine red blood cell laboratory techniques. The most robust osmoscan parameters for hereditary spherocytosis diagnosis were determined using receiver operating characteristic curve analysis. RESULTS: The best diagnostic criteria for hereditary spherocytosis were the combination of decreased minimal elongation index up to 3% and increased minimal osmolality point up to 5.2% when compared to the mean of controls. Using this established criterion, osmotic gradient ektacytometry reported a sensitivity of 93.85% and a specificity of 98.38% for the diagnosis of hereditary spherocytosis. CONCLUSION: Osmotic gradient ektacytometry is an effective diagnostic test for hereditary spherocytosis and enables its differential diagnosis with other red blood cell membrane diseases based on specific pathology profiles.
Subject(s)
Erythrocyte Deformability , Erythrocyte Membrane/metabolism , Flow Cytometry/instrumentation , Flow Cytometry/methods , Spherocytosis, Hereditary/blood , Spherocytosis, Hereditary/diagnosis , Adolescent , Adult , Aged , Child , Child, Preschool , Chronic Disease , Female , Humans , Infant , Male , Middle Aged , OsmosisABSTRACT
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most frequent cancer in childhood. Although intensive chemotherapy has improved survival in those patients, important side effects, including hyperbilirubinemia, are frequent. Gilbert syndrome (GS) is a frequent condition that causes a reduction in glucuronidation and intermittent hyperbilirubinemia episodes. This could provoke a greater exposure to some cytotoxic agents used in ALL, increasing the risk of toxicity. On the other hand, unexplained hyperbilirubinemia could lead to unnecessary modifications or even treatment withdrawals, which could increase the risk of relapse, but data regarding this in ALL pediatric population are scarce. METHODS: Retrospective study to analyze toxicity, outcome and treatment modifications related to GS in children diagnosed with ALL. RESULTS: A total of 23 of 159 patients were diagnosed with GS. They had statistically higher hyperbilirubinemias during all treatment phases (P < 0.0001) and a slower methotrexate clearance when it was administered during a 24-hr infusion at high doses (patients with GS: 74 hr ± 19 vs. patients without GS: 64 hr ± 8; P < .002). However, no relevant toxicity or delays in treatment were found in them. Finally, changes in treatment due to hyperbilirubinemia were only done in 5 patients with GS. CONCLUSIONS: Differences in outcome were not found in patients with GS. Universal screening for GS appears to be not necessary in pediatric patients with ALL. However, when hyperbilirubinemia is observed, it must be rule out in order to avoid unnecessary changes in treatment.
Subject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , DNA Mutational Analysis/statistics & numerical data , Gilbert Disease/drug therapy , Glucuronosyltransferase/genetics , Hyperbilirubinemia/diagnosis , Mutation/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Adolescent , Antineoplastic Combined Chemotherapy Protocols/pharmacokinetics , Child , Child, Preschool , Female , Follow-Up Studies , Gilbert Disease/genetics , Gilbert Disease/mortality , Humans , Hyperbilirubinemia/chemically induced , Hyperbilirubinemia/genetics , Infant , Infant, Newborn , Male , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/mortality , Prognosis , Retrospective Studies , Survival Rate , Tissue DistributionABSTRACT
Presentamos el caso de un lactante de 19 meses, previamente sano, con antecedentes de vivir en una zona semirrural y de tener un perro como animal de compañía, que presentaba la clínica de fiebre de 2 semanas de evolución y esplenomegalia gigante. La pancitopenia y la hipergammaglobulinemia características de la enfermedad estaban presentes. En la biopsia de médula ósea no se detectó el parásito, pero la serología para Leishmania infantum resultó positiva. Se comenta la sensibilidad del aspirado de médula ósea en el diagnóstico. El paciente recibió tratamiento con anfotericina B liposomal, y la respuesta fue excelente. Este caso amplía la poca experiencia acumulada respecto al tratamiento de esta enfermedad con anfotericina B liposomal, en particular en niños menores de 2 años
We report the case of a previously healthy 19-month-old boy whose family lived in the countryside and had a dog. He presented with a two-week history of fever and massive splenomegaly. The characteristic pancytopenia and hypergammaglobulinemia were also detected. Bone marrow biopsy was negative, but serology was positive for Leishmania infantum. We point out the sensitivity of the bone marrow aspirate in the diagnosis. The child was treated with liposomal amphotericin B with an excellent response. This case broadens the limited cumulative experience in treating this disease with liposomal amphotericin B, in particular, in children less than two years old
Subject(s)
Male , Infant , Humans , Leishmania infantum/pathogenicity , Leishmaniasis, Visceral/diagnosis , Amphotericin B/therapeutic use , Splenomegaly/etiology , Pancytopenia/etiology , Hypergammaglobulinemia/etiologyABSTRACT
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