摘要 :
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative...
展开
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA associated with B immunodeficiency, periodic fevers, and development delay. Twelve cases from 10 families were identified. Median age at presentation was 2 months. Anemia at diagnosis was sideroblastic, typically severe (median hemoglobin, 7.1 g/dL) and markedly microcytic (median mean corpuscular volume, 62.0 fL). Clinical course involved recurrent febrile illness and gastrointestinal disturbance, lacking an infective cause. Investigation revealed B-cell lymphopenia (CD19? range, 0.016-0.22 × 10?/L) and panhypogammaglobulinemia in most cases. Children displayed developmental delay alongside variable neurodegeneration, seizures, cerebellar abnormalities, sensorineural deafness, and other multisystem features. Most required regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Median survival was 48 months, with 7 deaths caused by cardiac or multiorgan failure. One child underwent bone marrow transplantation aged 9 months, with apparent cure of the hematologic and immunologic manifestations. We describe and define a novel CSA and B-cell immunodeficiency syndrome with additional features resembling a mitochondrial cytopathy. The molecular etiology is under investigation.
收起
摘要 :
Mucopolysaccharidosis type IH (MPSIH) is a lysosomal storage disorder whose untreated course involves progressive multisystem deterioration and death within the first decade of life. Allogeneic haematopoietic stem cell transplanta...
展开
Mucopolysaccharidosis type IH (MPSIH) is a lysosomal storage disorder whose untreated course involves progressive multisystem deterioration and death within the first decade of life. Allogeneic haematopoietic stem cell transplantation (HSCT) is an established treatment modality that improves functional outcome and long-term survival. Optimal outcome requires transplantation early in life and with myeloablative conditioning. Severe cardiomyopathy can be present at diagnosis and may seemingly preclude this approach. We performed a retrospective review of those cases transplanted in Manchester since 2000 that initially presented with established cardiomyopathy, with a view to identifying general management principles. Of 44 MPSIH children transplanted in this period, 6 had displayed moderate or severe cardiomyopathy at presentation; symptomatic cardiac failure was the predominant presenting feature in five of these. Echocardiographic and clinical improvement in cardiac function was observed with extended enzyme replacement therapy (ERT) in all cases, with recovery of fractional shortening to ≥25?% achieved in all patients before coming to transplant (after median 19?weeks ERT). All were transplanted successfully, with good functional and cardiologic outcomes. However, cyclophosphamide conditioning was implicated in acute post-transplant cardiac decompensation in several cases. Our experiences highlight three important messages: (1) A diagnosis of MPSIH should be considered in any infant presenting with unexplained severe cardiac failure; (2) ERT pre-transplant can improve cardiac function sufficiently to permit safe HSCT using myeloablative conditioning; and (3) High dose cyclophosphamide should be avoided in conditioning these patients.
收起
摘要 :
As a group, the leukaemias represent the most common malignant conditions of childhood. The treatment of childhood leukaemia, and in particular the treatment of acute lymphoblastic leukaemia (ALL), has shown tremendous improvement...
展开
As a group, the leukaemias represent the most common malignant conditions of childhood. The treatment of childhood leukaemia, and in particular the treatment of acute lymphoblastic leukaemia (ALL), has shown tremendous improvement in outcome in the last 40 years. Much of the success is due to the improvements in leukaemia therapy demonstrated in improved disease-free survival and reduced relapse rates in clinical trials but improvements in supportive care over the years have also had a very significant contribution. Over the last 30 years we have also seen reduced treatment related mortality due to better management of complications and better detection and treatment of infections. The emphasis of treatment as well as being cure is now focussing on targeting therapy to reduce the treatment burden in good risk disease and identify and intensify treatment for those with poor risk disease. The development of molecularly targeted therapies has changed the therapeutic landscape and this last decade has seen many improvements in outcome associated with these new agents. This review will give a brief overview of current treatment protocols used in childhood leukaemia, focussing specifically on the latest improvements and strategies in treating these conditions.
收起
摘要 :
Pseudohyperkalaemia is relatively uncommon in children, but needs to be considered in cases where extreme hyperkalaemia is associated with normal renal function.A previously well 12 year-old boy presented with new onset T cell acu...
展开
Pseudohyperkalaemia is relatively uncommon in children, but needs to be considered in cases where extreme hyperkalaemia is associated with normal renal function.A previously well 12 year-old boy presented with new onset T cell acute lymphoblastic leukaemia associated with a high peripheral blood white cell count. Plasma biochemistry tests on a blood sample sent to the laboratory using a pneumatic tube system showed a high plasma potassium level of 16.6 mmol/l, with otherwise normal electrolytes and renal function. A 12-lead electrocardiogram was normal, with no changes suggestive of hyperkalaemia. Pseudohyperkalaemia was suspected, and further samples transported to the laboratory by foot showed normal plasma potassium levels. It was subsequently demonstrated that the pseudohyperkalemia was due to the lysis of leukaemic white cells during the transport of blood samples from the ward to the laboratory within the pneumatic tube system.Paediatricians caring for children with haematological malignancies need to be aware of this cause of pseudohyperkalaemia so that unnecessary treatment, including the commencement of acute dialysis, is avoided. We recommend that blood samples collected from children with high white cell count malignancies are transported to the laboratory by foot rather than in pneumatic tube systems.
收起
原文获取