pH阳性原发性白血板增多症——附一例儿童病例研究报告

原发性血上板增多症（ＥＴ）是一种慢性骨髓干细胞克隆增生性疾病，其发病率甚低且常不伴有ｐＨ染色体，临床以持续性外周血血小板计数超过６００×１０＾９／Ｌ及骨髓巨核细胞明显增生为特征，常伴有血栓性并发症及出血症候。本文报道一例具有显著血小板增多的女性患儿，其主要临床表现为皮肤瘀斑及双手微血管栓塞性表皮坏死，血生化检查显示乳酸脱氢酶（ＬＤＨ）及碱性磷酸酶（ＡＬＰ）轻度升高，总胆固醇（Ｃｈｏｌ）降低，二磷酸     

继发性血小板增多症32例

血小板增多症分特发性（或称原发性）和继发性，前者在儿科罕见，后者虽较多见，但文献中报道较少。我们自1986年1月～1993年1月间发现继发性血小板增多症32例，报告如下。临床资料一、诊断标准1．血小板计数＞400×109／L，为暂时性，随原发病或病因祛除血小板渐降至正常；2．很少伴有出血和栓塞症状；3．骨髓巨核系增生不明显，血小板形态和功能正常。二、临床资料（一）一般资料32例患儿中男20例，女12例，年龄27天～13岁。（二）原发病情况扁桃体炎、败血症、营养性缺铁性贫血、急性粒细胞白血病缓解期、慢性粒细胞白血病、川崎病、类…     

70例原发性血小板减少性紫癜PLT与MPV,PDW和MK的关系

为了探讨原发性血小板减少性紫癜、患儿血小板计数与血小板平均体积、血小板分布宽度（ＰＤＷ）和骨髓巨核细胞数（ＭＫ）的关系,应用意大利产ＳＥＡＣ－Ｈ１２血球计数仪,对７０例ＩＴＰ患儿采毛细血管血做了２６４人次ＰＬＴ、ＭＰＶ和ＰＤＷ检测,其中５９例患儿在上述检查当日做骨髓穿刺涂片检测巨核细胞。结果：（１）ＰＬＴ≤９０＊１０＾９／Ｌ时,ＰＬＴ与ＭＰＶ呈高度正相关,ＰＬＴ〉９０＊１０＾９／Ｌ时,ＰＬＴ和ＭＰ     

继发性血小板增多症18例

我院1981年6月至1991年6月收治18例继发性血小板增多症。18例中男12例，女6例，发病年龄8天～8岁，原发症病化脓性脑膜炎8例（其中3例并发硬脑膜F积液），病毒性脑膜脑炎、感染性多发性神经很炎各1例；上呼吸道感染、肺炎各8例；低钙惊厥3例（伴营养性缺铁性贫血1例）。有2例为挛生兄妹同患上呼吸道感染。18例血小板510×109／L～960×109／L，8例骨髓象显示巨核细胞系统增生显著，形态正常，血小板呈大片状或成堆分布，其他系统无异常。全部病例出凝血时间正常，无出血倾向。6例给予抗凝治疗，降低血小板效果不显著。经原发病治疗，14例…     

原发性血小板增多症发病机制研究进展

原发性血小板增多症(ET)是一种以巨核细胞系增生为主的多能造血干细胞克隆性疾病.儿童与成人疾病特征类似,主要表现为血小板持续性增多,伴有出血、血栓形成,肝脾轻至中度肿大.研究表明ET的发病与多种基因、微小RNA、免疫分子的表达异常或失调及一些染色体异常等相关.该文综述了ET发病机制在分子生物学、免疫学、细胞遗传学等领域...     

骨髓增生异常综合征诊断治疗探讨──附25例报告

本文对25例骨髓异常增生综合征（MDS）的诊断治疗探讨。均具有中度贫血，发热，出血症状及浅表淋巴结轻──中度肿大，肝脾轻──中度种中，外周血象血红蛋白平均50g／L，＜90g／L者占89％；红细胞增均1．78×10(12)／L，白细胞＜4×109／L者占52．3％，血小板平均62×109／L，骨髓表现增生活跃或明显活跃者占88％，增生减低者占12％，粒：红≤1者占65％，红系增生活跃占68％，减低占32％，并且大多数表现为成熟红细胞大小不等。巨幼样变及核的畸形，粒系统增生活跃者28％，减低者72％，多表现为核的不规则，核浆发育不平衡，多见双核粒细胞，巨核系统大部分受抑制，出现小淋巴样巨核细胞，部分表现为巨核细胞，血小板罕见。其中，难治性贫血（RA）16例；环状铁粒幼细胞性贫血（RA—S）1例；原始细胞过多难治性贫血（RAEB）6例；转化中难治性贫血伴有原始细胞增多（RAEB-T）1例；急性淋巴细胞性白血病（ALL）1例。提示：本组病例骨髓原始淋巴细胞增多占相当比例，MDS一旦转化为急性白血病，则病情迅速恶化，存活期明显缩短。我们体会到MDS应与再障相鉴别：其关键是MDS具有各种代表DNA复制紊乱的现象和骨髓中原始细胞增多之特点而再障则不具备。     

儿童继发性血小板增多症病因初步分析

儿童血小板增多症分为原发性和继发性 ,前者在儿科罕见 ,后者虽较多见 ,但临床不引起重视 ,文献上较少报道。随着电子细胞计数器的广泛应用 ,血小板增多症的检出率逐渐增多。我院近三年来共检出临床上排除原发性血小板增多症患儿 4 6 8例 ,报告如下。　　临床资料一、诊断标准 (ＡｄｄｉｅｇｏＪＥ .1 974 ;儿科杂志及陶晶 .1 989;实用儿科杂志 )1 血小板计数 >4 0 0× 1 0 9 Ｌ ,为暂时性 ,随原发病或病因祛除血小板渐降至正常。2 很少伴有出血和栓塞症状3 骨髓巨核系增生不明显 ,血小板形态和功能正常。二、临床资料1 .一般资料　 4 6 8…     

70例原发性血小板减少性紫癜PLT与MPV、PDW和MK的关系

为了探讨原发性血小板减少性紫癜（ＩＴＰ）、患儿血小板计数（ＰＬＴ）与血小板平均体积（ＭＰＶ）、血小板分布宽度（ＰＤＷ）和骨髓巨核细胞数（ＭＫ）的关系,应用意大利产ＳＥＡＣ－Ｈ１２血球计数仪,对７０例ＩＴＰ患儿采毛细血管血做了２６４人次ＰＬＴ、ＭＰＶ和ＰＤＷ检测,其中５９例患儿在上述检查当日做骨髓穿刺涂片检测巨核细胞数。结果：（１）ＰＬＴ≤９０×１０９／Ｌ时,ＰＬＴ与ＭＰＶ呈高度正相关,ＰＬＴ＞９０×１０９／Ｌ时,ＰＬＴ与ＭＰＶ无正相关;（２）ＰＬＴ≤９０×１０９／Ｌ时,ＰＬＴ与ＰＤＷ是高度正相关,ＰＬＴ＞９０×１０９／Ｌ时,ＰＬＴ与ＰＤＷ无正相关;（３）ＰＬＴ≤９０×１０９／Ｌ时,ＰＬＴ与ＭＫ是高度正相关,ＰＬＴ＞９０×１０９／Ｌ时,ＰＬＴ与ＭＫ无正相关。     

小儿特发性血小板减少性紫瘢47例临床分析

特发性血小板减少性紫癜（ITP）是儿科常见的一种出血性疾病，因免疫机制使血小板破坏增多的一组临床综合征，大多数ITP患者骨髓中巨核细胞代偿增生，同时伴有巨核细胞发育成熟障碍。本文将1999～2004年我院收治ITP患儿47例骨髓像及血象的改变进行临床分析，报告如下。     

小儿血小板增多症359例病因分析

小儿血小板增多症３５９例病因分析浙江省温岭市第一人民医院（３１７５００）李桦林峰１对象与方法１．１对象３５９例均系１９９３年１月～１９９５年１２月收住本科的患儿，并已在临床上排除原发性血小板增多症。除各自疾病外，均伴有血小板增多。１．２方法晨起用７号...     

Juvenile chronic myeloid leukemia: oncogene characterization

A 31/2-year-old female presented with thrombocytopenia and anemia. The bone marrow showed marked hemophagocytosis with an increase in macrophages. Over the next 2 months, there was a progressive de-differentiation of this monocytic population with the accumulation of blasts in the blood and bone marrow. The blasts had a normal 46XX karyotype and showed no fusion of the bcr and abl genes associated with Philadelphia chromosome positive leukemia. Intensive chemotherapy produced a transient hypoplastic state during which a bone marrow transplant was performed. The bone marrow after transplant again demonstrated a large population of macrophages. These cells continued to de-differentiate over the ensuing year up until the time of the patient's death. The mononuclear blast cell population was inducible toward monocytic maturation in tissue culture by low doses of ARA-c or daunorubicin. These mononuclear blasts expressed c-myc and c-fos mRNA at high levels, a further marker of their proliferative state and monocytic origin.     

Juvenile Chronic Myeloid Leukemia: Oncogene Characterization

A 3 1/2-year-old female presented with thrombocytopenia and anemia. The bone marrow showed marked hemophagocytosis with an increase in macrophages. Over the next 2 months, there was a progressive de-differentiation of this monocytic population with the accumulation of blasts in the blood and bone marrow. The blasts had a normal 46XX karyotype and showed no fusion of the bcr and abl genes associated with Philadelphia chromosome positive leukemia. Intensive chemotherapy produced a transient hypoplastic state during which a bone marrow transplant was performed. The bone marrow after transplant again demonstrated a large population of macrophages. These cells continued to de-differentiate over the ensuing year up until the time of the patient's death. The mononuclear blast cell population was inducible toward monocytic maturation in tissue culture by low doses of ARA-c or daunorubicin. These mononuclear blasts expressed c-myc and c-fos mRNA at high levels, a further marker of their proliferative state and monocytic origin.     

Prophylactic post‐transplant dasatinib administration in a pediatric patient with Philadelphia chromosome‐positive acute lymphoblastic leukemia

Philadelphia chromosome‐positive acute lymphoblastic leukemia has a poor prognosis, even in pediatric patients. Although imatinib‐containing chemotherapy can reportedly improve early event‐free survival, allogeneic hematopoietic stem cell transplantation is still considered to be the main curative treatment option. Dasatinib, a novel abl tyrosine kinase inhibitor, is being used for the treatment of relapsed or refractory Philadelphia chromosome‐positive acute lymphoblastic leukemia and is reported to have excellent efficacy. We used dasatinib after bone marrow transplantation prior to the anticipated relapse for the purpose of prophylaxis against relapse. After discontinuation of dasatinib administration, molecular remission has lasted for 7 months. Although preventive use of dasatinib is as yet uncommon, we consider that dasatinib may eradicate the minimal residual disease and prevent recurrence, and it is feasible to administer and appears to be safe. Further studies are needed to confirm our experience in this case.     

小儿原发性血小板增多症4例临床及实验室分析

目的探讨小儿原发性血小板增多症(ET)的临床、实验室特征。方法诊断依PVSB标准;行血常规、骨髓细胞形态学、凝血四象、血小板功能等检查。确诊后给予抗凝、活血或马利兰治疗。结果4例患儿中以出血症状诊断2例、血栓症状诊断2例;脾肿大3例;外周血血小板(Plt)724~1028×109/L,易见Plt聚集成堆,可见巨大Plt、畸形Plt;骨髓象巨核细胞明显增多,分类以产板型为主;3例APTT延长,血小板粘附率、聚集功能降低。治疗后症状均缓解,随访至今无恶性转化。结论ET患儿具典型的临床和实验室特征,临床应予以重视,以防误诊。     

Bone marrow fibrosis and radiological changes of the long bones in children with acute megakaryocytic leukaemia

The diagnosis of acute megakaryocytic leukaemia (AMkL) may be difficult to establish owing to difficulties in obtaining adequate bone marrow aspirates secondary to bone marrow fibrosis. We describe three children without Down's syndrome under 2 y of age with AMkL. Although none of the patients had the non-random t (1;22) (p13;q13) translocation, bone marrow cells from all patients exhibited chromosome abnormalities with complex karyotypes, including trisomy 21 in two cases. All patients had profound bone marrow fibrosis and characteristic lamellar diaphyseal radiological changes of the long bones.     

Retrospective analysis of the clinical course of 12 children given the diagnosis essential thrombocythemia

BACKGROUND: Essential Thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by excessive production of platelets. The disorder is usually affecting adults and is rarely diagnosed in children. PATIENTS UND METHODS: In this retrospective study we describe 12 children aged 5-16 years in whom ET was presumed. RESULTS: Median follow-up was 59 months (range 10-72). At diagnosis 7 patients had clinical symptoms (syncope, poor concentration, fatigue, abdominal pain and mild bleeding), 5 patients were diagnosed accidentally (operation, allergy, enuresis, pneumonia, routine examination). Median platelet count at diagnosis was 1 325 x 10 (9)/L (range 600-3 050). In 11 cases bone marrow morphology was consistent with ET, one patient had chronic idiopathic myelofibrosis. Cytogenetics were normal in all studied cases. Within 6 months after the initial presentation one patient who was diagnosed accidentally developed thrombosis, another patient had mild bleeding. 8 patients were treated with acetylsalicylic acid (in addition, 1 patient received hydroxyurea, 2 patients received anagrelide). On last follow-up all patients were alive, none had developed leukemia. 5 patients experienced hematological remission. 2 of these children had not received any therapy. CONCLUSIONS: Many patients had symptoms attributable to ET. The clinical course is heterogeneous with complete normalization of platelets in the absence of cytoreductive therapy in some children. Due to the low incidence of ET in children indications for therapy are unclear and can only be deduced from findings obtained from studies in adults.     

Platelet dysfunction in homozygous beta-thalassemia

This report details the results of studies performed in nine patients with homozygous beta-thalassemia evaluating platelet function and prostaglandin formation. Platelet malonyldialdehyde (MDA) formation in the presence of N-ethyl maleimide (NEM 1 mM) or thrombin (0.5 u/ml) was used as an indicator of platelet prostaglandin synthesis. The data on the nine patients revealed two distinct subgroups of patients. Six of nine thalassemics, demonstrated platelet abnormalities. Their mean bleeding time was 7.5 +/- 2.5 min (1 SD), significantly prolonged (P less than 0.005) when compared to a value of 3.5 +/- 1.0 min in normal controls. MDA formation in the presence of NEM was significantly decreased (P less than 0.005) to 2.41 +/- 0.49 (1 SD) when compared to a control value of 3.24 +/- 0.33 nmoles MDA/10(9) platelets. Similarly, the mean value for thrombin induced MDA was 0.98 +/- 0.18 nmoles which was decreased (P less than 0.02) when compared to a value of 1.26 +/- 0.2 in the controls. Platelet aggregations with adenosine diphosphate (ADP), epinephrine, and collagen were abnormal in all six patients. However, when platelets from these patients were mixed with platelets from donors who had ingested aspirin 2-8 hr before donation mutual correction and secondary irreversible aggregation of the mixture resulted. No mutual correction was observed when the thalassemic platelets were preincubated with aspirin in vitro before mixing with platelets from donors who had recently ingested aspirin. Although the total amount of platelet malonyldialdehyde formed by the thalassemic platelets in response to NEM and thrombin was decreased when compared to normal controls, this reduction was not the cause of the platelet aggregation abnormalities. This appears to be so because the amount of MDA, and, thus, prostaglandin endoperoxides synthesized by these platelets in response to external stimuli was sufficient to cause irreversible aggregation of platelets from donors who had recently ingested aspirin, and were, therefore, unable to synthesize their own endogenous platelet endoperoxides. In the remaining three patients, bleeding times, platelet aggregation, and MDA formation was normal. No correlation was observed between the platelet abnormalities noted and the magnitude of iron overload, presence of fibrin degradation products, liver function abnormalities, or the use of iron chelators in the individual patient. Family studies were normal. Although the platelet dysfunction does not appear to be of major significance in the usual patient with thalassemia major under normal circumstances, antiplatelet aggregating agents should be used with caution. Aspirin inhibits platelet endoperoxide and prostaglandin formation and this effect may potentiate the platelet dysfunction present in some patients with thalassemia major.     

CAMT in a female with developmental delay, facial malformations and central nervous system anomalies

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder characterized by thrombocytopenia and absence or decline in the number of megakaryocytic precursors in the bone marrow. It is caused by mutations in the thrombopoietin receptor gene, c-mpl, involved in the proliferation and differentiation of megakaryocytes and platelets. The association between CAMT and central nervous system (CNS) anomalies has been reported in the literature, albeit not very frequently. Here we present a unique case where CAMT appeared associated to cerebellum agenesis, hypoplasia of the corpus callosum and brainstem, facial malformations, and developmental delay.     

Persistent clonal chromosomal abnormalities in a chronic myeloid leukemia patient

Clonal cytogenetic abnormalities (CCA) in Philadelphia chromosome (Ph)‐negative cells have been reported in a small population of adult chronic myelogenous leukemia (CML) patients during the clinical course, but CCA in pediatric CML patients are rarely reported. We herein report the case of an 8‐year‐old boy from the onset of CML. Although he had relapse after unrelated bone marrow transplantation when 9 years old, he has since been in complete molecular response on imatinib mesylate treatment. Surprisingly, various CCA have been observed in this patient, including several reciprocal chromosomal translocations in Ph‐negative cells for >12 years. Although dysplasia in the bone marrow cells was identified, no overt transformation to myelodysplastic syndrome or acute myeloid leukemia has been observed. The cause of the CCA remains unknown in this patient, and careful observation is required.