Mean platelet volume as a predictive marker for poor prognosis of acute renal failure in children

Acute renal failure [ARF] is a clinical syndrome in which a sudden deterioration in renal function results in the inability of the kidneys to maintain fluid and electrolyte homeostasis. A classification system has been proposed to standardize the definition of acute kidney injury in adults. These criteria of risk, injury, failure, loss and end-stage renal disease were given the acronym of RIFLE. Our goal was to study the mean platelet volume [MPV] as a prognostic predictor of ARF in children. Mean platelet volume [MPV] is a machine-calculated measurement of the average size of platelets in blood and typically included in blood tests as part of CBC [Complete Blood Count]. Since the average platelet size is larger when the body is producing increased numbers of platelets, MPV can be used to make inferences about platelet production in bone marrow or platelet destruction problems. The records of 200 patients with ARF were investigated prospectively. Complete blood count including MPV, erythrocyte sedimentation rate, serum C-reactive protein and electrolytes of patients were measured and compared. MPV values were low in loss [p=0.0012] and failure [p<0.005]. The sensitivity and specificity of MPV for the diagnosis of loss and failure were higher than those of the other inflammation markers. MPV<8.2 fL was significantly associated with poor prognosis in renal functions. MPV is a fast and reliable measurement with considerable predictive value for prediction of prognosis in acute renal failure

Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia

G6BC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations. In this report, we present the clinical details of a recently known case of severe congenital neutropenia [SCN] with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/micro l was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor [GCSF] administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea, bronchiolitis, and urinary tract infection were other infectious complications, while hydronephrosis, atrial septal defect, and patent ductus arteriosus were other manifestations. Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients

mtDNA deletion in an iranian infant with pearson marrow syndrome

Pearson syndrome [PS] is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures, Hematopoietic abnormalities were macrocytic anemia and neutropenia. Bone marrow aspiration revealed a cellular marrow with marked vacuolization of erythroid and myeloid precursors. Analysis of mtDNA in peripheral blood showed 8.5 kb deletion that was compatible with the diagnosis of PS. PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia

Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to anti-CD20 monoclonal antibody

Immunodeficiency and autoimmune disease may occur concomitantly in the same individual. Some of the immunodeficiency syndromes, especially humoral defects are associated with autoimmune disorders. Hematological manifestations such as thrombocytopenia and hemolytic anemia are the most common presentations. Persistent antigen stimulation due to an inherent defect in the ability of the immune system to eradicate pathogens is the primary cause leading to autoimmunity in patients with primary immunodeficiency states. We describe a 10 year old Iranian girl with chronic granulomatous disease -the autosomal recessive type with mutation of NCF1 gene P47- associated with selective IgA deficiency, refractory immune thrombocytopenia that showed an excellent response to Rituximab [Anti-CD20 monoclonal antibody]. Patients with primary immunodeficiencies may have variable autoimmune manifestations. So for early detection and appropriate treatment, autoimmune diseases should always be suspected in such patients