儿童原发性恶性非肾母细胞瘤性肾脏肿瘤诊治特点

目的 探讨儿童原发性恶性非肾母细胞瘤性肾脏肿瘤的临床诊治特点.方法 回顾性分析1993年4月至2008年1月问收治的11例儿童原发性恶性非肾母细胞瘤性肾脏肿瘤患儿的临床资料.根据临床表现及术前影像学检查并于术前行穿刺活检,治疗方法主要为术前介入和/或全身化疗、手术切除、术中热灌注化疗和术后化疗.结果 肾细胞癌6例,无瘤长期(平均32个月)生存率66.7%.中胚性肾瘤3例,均获3年以上无瘤生存.肾透明细胞肉瘤1例,术后复发死亡.肾横纹肌样瘤1例,术后化疗2个月复发,结论儿童原发性恶性非肾母细胞瘤性肾脏肿瘤发病率低,临床表现与肾母细胞瘤相似,术前诊断较为困难,其中肾细胞癌发病年龄多为年长儿,而肾透明细胞肉瘤、中胚层肾瘤和肾横纹肌样瘤则多见于小婴儿.经过多项系统性治疗,中胚层肾瘤预后较佳,肾细胞癌次之.     

肾小管性酸中毒7例综合报告

本文报道7例肾小管性酸中毒(RTA)。其中4例属原发性,3例属继发性。临床表现为低钾麻痹,生长发育迟缓,多饮多尿及血生化异常。现将治疗及随访结果报道如下。例1 男,7岁。75年患肾病综合症,当时测血钾为5.8mEq/L,CO_2-CP 55.5Vol%。78年出现四     

儿童进展期恶性淋巴瘤15例

目的 总结15例儿童进展期恶性淋巴瘤的临床特点及治疗方法。方法 回顾性分析15例儿童进展期恶性淋巴瘤的临床特点、病理分型、预后指标有治疗。结果 儿童非何杰金淋巴瘤多以浅表淋巴结肿大和纵隔压迫为首发症状。免疫分型多为高度恶性，以T淋巴母细胞型为主。起病时多为进展期，以化疗为主，用鞘注和大剂量抗代谢药物代替头颅放疗，全组长期无病生存率为53.3%。结论 儿童非何杰金淋巴瘤为儿童常见肿瘤，恶性度高，易复发，易早期血行转移，不同分型有不同的化疗方案和预后。     

原发性回盲肠恶性淋巴瘤8例

目的探讨原发性回盲肠恶性淋巴瘤的临床特点、诊断及治疗。方法对小儿原发性回盲肠恶性淋巴瘤8例的临床特征、影像学表现、术中发现及病理资料进行回顾性分析。结果患儿8例均行根治性手术,术后辅以化疗和放疗2例,1例生存4年,1例生存1年失访;余6例患儿,2例生存2年仍在随访中,生存1、0.5年死亡各1例,另外2例失访。病理及免疫组织化学检查结果:CK(-),CD20( ),CD45RO(-),MPO(-),Ki67>60%、Ki67>75%各4例。结论原发性回盲肠恶性淋巴瘤临床表现复杂多样而缺乏特异性,组织病理学检查是确诊本病的主要手段,早期根治手术辅以化疗和放疗是主要治疗方法。     

儿童低钾性肾小管疾病38例临床分析

目的探讨儿童低钾性肾小管疾病的临床特点以及基因诊断在该类疾病中的应用价值。方法回顾性分析2010年1月至2016年1月上海市儿童医院收治的38例低钾性肾小管疾病患儿的临床资料及基因诊断结果。结果 38例患儿包括肾小管酸中毒Ⅰ型17例,肾小管酸中毒Ⅱ型1例,Bartter综合征11例,Gitelman综合征5例,范可尼综合征4例。临床特点:低钾性肾小管疾病以肌无力、恶心呕吐、多饮多尿、生长发育迟缓为主要的临床症状。在肾脏损害方面,1例范可尼综合征患儿进展至慢性肾脏病(CKD)3期,其余患儿肾功能正常。Bartter综合征、Gitelman综合征和范可尼综合征分别有1例、1例和3例患者出现肾小球性蛋白尿,1例范可尼综合征出现肾小管性蛋白尿。患儿肾小球性和肾小管性尿微量蛋白普遍升高。基因诊断:1例肾小管酸中毒Ⅰ型为ATP6V0A4复合杂合突变,3例Gitelman综合征系SLC12A3复合杂合突变。结论低钾性肾小管疾病的临床表现多样化,以肌无力、恶心呕吐、多饮多尿、生长发育迟缓为主要的临床症状;低钾性肾小管疾病患儿普遍同时存在肾小球和肾小管损伤;基因诊断有助于低钾性肾小管疾病的诊治及遗传咨询。     

家族性少年性肾单位痨-髓质囊肿病20例临床分析

探讨家族性少年性肾单位痨-髓质囊肿病(FJN-MCD)临床表现特点及诊断。方法收集15年 间住院诊断本病患儿20例,对其临床资料作回顾性分析。结果儿童FJN-MCD以男性多见。临床症状16例 (80％)为多饮多尿,18例(90％)为生长落后。其临床表现隐匿,早期的多饮多尿症状常常被忽视。大多数患 儿因贫血、生长缓慢或停滞就诊,经检查发现肾功能不全时才能作出诊断,肾脏B超和肾活检于皮髓交界区或 髓质可见囊肿,但大多数仅提示慢性肾病改变。结论FJN-MCD常于幼年起病,以多饮多尿、生长落后为主要 表现,伴有肾功能不全、贫血、酸中毒有助于诊断。     

以骨质破坏为主的儿童恶性淋巴瘤临床及影像学特点

为初步探讨表现为骨质破坏的儿童恶性淋巴瘤临床及影像学特点、方案选择、疗效和预后,对6例表现为骨质破坏的儿童恶性淋巴瘤进行影像学检查、免疫组化检查、病理分型及选择方案化疗和放疗并长期随访。结果显示6例患儿CT和MRI检查均有不同骨质破坏,免疫分型为B型;采用MCP方案化疗后1例死亡,5例长期无病生存。提示表现为骨质破坏的恶性淋巴瘤临床少见报道,应通过影像学和病理检查及早确诊,可采用常规化疗方案结合放疗治疗,预后与临床分期相关。     

儿童恶性肾横纹肌样瘤3例临床分析及文献回顾

目的通过总结3例原发于肾脏的儿童恶性横纹肌样瘤的临床资料,探讨儿童肾横纹肌样瘤的诊断、治疗及预后。方法收集我院近8年来收治的3例病理明确诊断的原发于肾脏的恶性横纹肌样瘤（男2例,女1例）,对其发病特点、病理特点、治疗及随访等临床资料进行总结分析,并复习相关文献。结果根据国际儿童肿瘤组织肾横纹肌样瘤的临床分期诊断,3例患儿均为Ⅲ期。均行手术、化疗及放疗治疗。化疗以ICE与VDC交替方案为主,化疗周期分别为6、6、15周期,放疗采用外放疗。随访至2012年7月（3例随访时间分别是8、14、8个月）。2例获完全缓解（CR）,1例复发后经手术、化疗及放疗后病情部分缓解（PR）。结论恶性肾横纹肌样瘤是一种少见、病理形态独特的肿瘤。治疗应在明确诊断和确切分期的基础上,行手术、化疗和选择性放疗的综合性治疗。     

小儿肿瘤胸腔急诊处理探讨

目的 探讨因纵隔肿瘤生长压迫上腔静脉和气管引起的上腔静脉综合征（SVCS）及上纵隔综合征（SMS）的处理。方法 1990年10月－2000年4月我院共治疗9例SVCS及SMS，其中恶性淋巴瘤6例，神经母细胞瘤3例。结果 经外周淋巴结活检明确诊断为恶性淋巴瘤3例，骨髓穿刺确诊为神经母细胞瘤2例，诊断性化疗4例，化疗前需气管插管支持2例，反复胸腔穿刺3例，所有病例治疗后症状均有缓解。结论 只有内、外科、影像学科、病理科、放疗科各学科之间互相配合，共同治疗SVCS及SMS才能取得最佳疗效。     

恶性实体瘤110例

目的探讨小儿恶性实体瘤的临床特点、治疗措施和预后。方法收集本院住院治疗的小儿恶性实体瘤110例。病例均经病理证实。男64例,女46例。患儿常规进行B超检查、病理检查、增强CT扫描、螺旋CT、MRI,根据情况进行免疫组织化学检查及全身骨扫描等检查,以指导治疗及预后。结果 110例中肾母细胞瘤26例,恶性淋巴瘤26例(非霍奇金淋巴瘤20例,霍奇金淋巴瘤6例),肝母细胞瘤17例,生殖细胞瘤、横纹肌肉瘤各10例,神经母细胞瘤8例,视网膜母细胞瘤6例,畸胎瘤3例,髓母细胞瘤、骨肉瘤各2例,本组总体治愈率为58.18%。结论采取手术、化疗、放疗等综合治疗小儿恶性实体瘤的生存率有很大提高,但由于小儿恶性肿瘤发病比较隐匿,确诊一般都到晚期,小儿实体肿瘤仍是儿童死亡的主要原因之一。     

The initial presentation of renal tubular syndrome

History, clinical presentation and first laboratory results were analyzed in three patients with cystinosis and in three patients with distal renal tubular acidosis. Growth failure, gastrointestinal tract disturbances, polydipsia, and polyuria were the most constant findings on history. Patients with distal renal tubular acidosis had a shorter period of clinical symptoms. All patients presented with dystrophy and dehydration. First laboratory investigation uniformly showed metabolic acidosis, high urinary-pH, and in spite of dehydration a low osmolarity of the first voided urine specimen. There were lower values of serum potassium and of urine osmolarity in cystinosis. In addition, metabolic acidosis was not so pronounced. Our study shows that history, clinical presentation and the results of a few simple laboratory investigations can indicate the presence of a renal tubular disorder even on admission of the patients.     

Hysterical polydipsia (compulsive water drinking) in children.

Two patients had entirely different clinical presentations of hysterical polydipsia: convulsions and coma in a 5-year-old boy with intrinsic renal disease and a single kidney, and abnormal behavior in a 3-year-old girl with normal kidneys. In neither case was the correct diagnosis made on initial evaluation. Physiological studies demonstrated primary polydipsia to be responsible for both clinical presentations. The differential diagnosis of polydipsia and polyuria is reviewed, and the nonuniform presentation of hysterical polydipsia is emphasized. In children with intrinsic renal disease, hysterical polydipsia may be life-threatening.     

A familial syndrome of growth retardation, severe Fanconi-type renal disease and glomerular changes--a new entity?

Two young siblings had a syndrome of growth retardation, severe rickets, anemia, renal insufficiency, and renal tubular dysfunction, the last including acidosis, aminoaciduria, and polyuria. There was moderate psychomotor developmental delay. Neither child had cystinosis. Renal biopsy in the older child revealed severe glomerular abnormalities, with capillary wall thickening reminiscent of the hemolytic-uremic syndrome. The proximal convoluted tubules were lined with short, cuboidal cells containing mildly abnormal mitochondria. There was also thinning of brush border microvilli and basolateral infoldings, perhaps as the result of regressive changes, and interstitial fibrous tissue was moderately increased. The etiology of the tubular and glomerular changes is uncertain. We believe these patients represent a previously unreported hereditary syndrome sharing certain clinical features with severe nephropathic cystinosis.     

Severe polyuria and polydipsia in hyponatremic‐hypertensive syndrome associated with Wilms tumor

The combination of hyponatremia and renovascular hypertension is known as hyponatremic‐hypertensive syndrome (HHS) and so rarely described in children but associated with various kinds of occlusions of the renal artery. We describe two children who presented HHS with severe hypokalemia, polyuria, and polydipsia associated with Wilms tumor, which required treatment with an angiotensin‐converting enzyme inhibitor before nephrectomy. All HHS signs and symptoms resolved only following surgical resection of the tumor, allowing chemotherapy to be given. Pediatr Blood Cancer. 2010;55:566–569. © 2010 Wiley‐Liss, Inc.     

The significance of focal segmental glomerulosclerosis in oligomeganephronia

Oligomeganephronia (OMN) is characterized by a reduced number of nephrons, with compensatory hypertrophy of the remaining glomeruli and tubules. The clinico-pathological features of six cases seen at The Hospital for Sick Children, Toronto were reviewed. One patient presented in infancy (10 days of age), the others between 12.8 and 14.5 years (mean 13.7 years), with long-standing polydipsia and polyuria, enuresis, and growth retardation. All patients had proteinuria which tended to increase as the disease progressed. At renal biopsy, four patients showed significant proteinuria (greater than 1.3 g/24 hr). Biopsies from these patients showed focal segmental glomerulosclerosis (FSGS) and all have rapidly progressed to dialysis/transplantation. The two remaining patients had lesser degrees of proteinuria (less than 0.3 g/24 hr) and no evidence of FSGS on biopsy; however, they are currently in chronic renal failure (mean serum creatinine 2.8 mg/dl). We conclude that increasing proteinuria in patients with OMN heralds the development of FSGS, presumably due to functional overload of the reduced nephron number. This is associated with a rapid decline in renal function.     

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目的探索用联合大剂量免疫抑制剂进行强免疫清除,但保留骨髓造血功能而无需造血干细胞移植(SCT)的方法,治疗儿童难治性系统性红斑狼疮(SLE)的疗效。方法2004-08—2005-04对中山大学附属第一医院儿科收治的难治性SLE5例进行二种方案的疗效分析。5例均有肾损害,其中4例肾病理WHO-Ⅳ型和大量蛋白尿,2例免疫性溶血性贫血,1例免疫性血小板减少,均曾用包括环磷酰胺(CTX)和甲基泼尼松龙双冲击等治疗无效或病情反复无法控制。4例给予方案1治疗,另1例因严重水肿和尿少不宜用大剂量CTX,给予方案2治疗。疗效用SLE疾病活动性指数记分(SLEDAI)评估。结果方案1从CTX结束算起,中性粒细胞恢复到0.5×109/L平均需10d,方案2从Ara-C结束起,中性粒细胞恢复到0.5×109/L需16d;治疗3周时SLEDAI平均从9.2降至4.4,尿蛋白从(++++)降至(0～+),合并有重度难治性贫血或血小板减少者,治疗后血红蛋白或血小板分别恢复正常或接近正常;方案2治疗的1例由于肾血管血栓形成未能控制,病情短暂好转后再度恶化,1个月后死于DIC和肾功能衰竭;另4例随访5～16个月,病情基本控制。结论控制在一定范围内的大剂量免疫抑制剂治疗SLE,无需SCT而能恢复自身造血,同时能相当大程度清除病态免疫系统,使常规治疗无效者病情缓解,值得进一步探索。     

Intracraneal epidural abscess as a complication of sinusitis

Familiar hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare syndrome belonging to the group of heterogeneous tubular diseases whose common characteristic is renal magnesium wasting. We present a 9 year old boy with polyuria, polydipsia and enuresis. Radiologic and ultrasonographic examinations showed nephrocalcinosis. Hypomagnesemia, normokaliemia, hypermagnesiuria, hypercalciuria, incomplete distal tubular acidosis, hypocitraturia and mild renal failure were found. Treatment with magnesium salts, hydrochlorothiazide, potassium citrate and sodium bicarbonate did not restore magnesium or calcium levels to normal. Renal function and nephrocalcinosis remain stable after 3 year's treatment. In conclusion, we report a new case of this rare syndrome caused by a congenital defect in magnesium reabsorption and discuss the evolution of the illness during 3 years' treatment.     

Tubular function and histological findings in ifosfamide-induced renal Fanconi syndrome — a report of two cases

Two patients developed renal Fanconi syndrome (RFS) after intensive long-term chemotherapy for metastatic Ewing sarcoma and disseminated neuroblastoma. Whereas RFS was diagnosed in patient 1 before he developed osteomalacia, patient 2 experienced severe rickets and growth retardation. Renal function studies revealed slight glomerular impairment and severe tubular defects leading to increased excretion of glucose, amino acids, inorganic phosphate and low molecular weight proteins, indicating proximal tubular damage. Patient 2 additionally showed distal tubular dysfunction with acidosis and diminished concentrating capacity. Renal biopsy in patient 1 revealed marked proximal tubular defects without interstitial lymphocytic infiltration. In both patients renal damage could most likely be ascribed to previous ifosfamide (IFOS) therapy. Our patients showed no improvement in renal function after cessation of IFOS treatment, indicating a poor prognosis of once established RFS after IFOS therapy. Measurement of tubular reabsorption capacities provides exact information on the extent of tubular toxicity induced by IFOS and may be used to monitor IFOS treated patients.     

儿童伯基特和伯基特样淋巴瘤40例的临床研究

目的 认识儿童伯基特淋巴瘤(BL)和伯基特样淋巴瘤(BLL)的病理及临床特点,总结大剂量、短疗程化疗方案的疗效,探讨治疗相关的合并症及预后影响因素.方法 2003年2月-2006年4月住院治疗的淋巴瘤患儿40例,全部行活检病理形态及免疫组化检查,并按WHO新的病理分型标准进行分型,参照儿童非霍奇金淋巴瘤(NHL)的St.Jude分期标准进行分期.采用大剂量、短疗程的改良LMB89方案进行治疗.根据不同分期、不同危险因素及对治疗反应的评估结果,将患儿分成A、B、c三个治疗组.结果 临床特点:发病年龄2～14岁,中位发病年龄6.9岁;男33例,女7例,男:女=4.7:1;腹腔肿物及急腹症为最常见表现.病理示BL 30例、BLL 10例;7例(17.5%)在瘤组织中检测到EBER-1阳性细胞,19例血清中EB病毒抗体阳性.确诊时I～Ⅱ期患儿9例,Ⅲ～Ⅵ期患儿31例;伴中枢侵犯者3例,骨髓侵犯者2例.疗程2～8个月.随访率100%,中位追踪时间22.6个月.至2006年12月底,实际存活35例,1年生存率88.7%,预计3年无进展生存率81.8%.化疗中Ⅲ～Ⅳ度骨髓抑制的发生率在B组和C组分别为97.5%和100%,3例出现重症黏膜炎.5例死亡,其中2例为副作用相关死亡.单因素分析显示,临床分期为Ⅳ期、治疗3个月时评估有残留病灶、病程小于15 d与预后不良相关(P＜0.05).结论 采用大剂量、短疗程方案治疗BL和BLL疗效好,预计3年无进展生存率81.8%.病史小于15 d、诊断时为Ⅳ期、治疗3个月未达完全缓解者与预后不良相关.     

13例小儿横纹肌肉瘤疗效分析

目的：分析小儿横纹肌肉瘤疗效,特别是大剂量化疗的效果。方法：对该院1998年1月至2005年10月收治的13例横纹肌肉瘤患儿临床资料进行分析。男8例,女5例;年龄7个月至12岁;依据美国横纹肌肉瘤研究组(IRS)的分期标准 Ⅰ期2例、Ⅱ期2例、Ⅲ期3例、Ⅳ期6例。所有患儿均经病理活检确诊,其中胚胎型12例,腺泡型1例。1例手术,1例手术加放疗,1例手术加化疗,10例手术加放疗及化疗。2002年前的病例化疗以VDCA、VAC和VadrC为主;2002年后采取了美国COG治疗横纹肌肉瘤的化疗方案,Ⅲ期采取CDV+IE方案治疗,Ⅳ期采用CT+VAC或CT+VAC+VCT方案治疗。结果：10例接受手术加放疗及化疗联合治疗的患儿2年生存率为60%,另外3例没有接受联合治疗的患儿全部死亡。2002年后患儿生存率（60%,3/5）高于2002年前生存率（37.5%,3/8）。患儿2年生存率2002年前为37.5%(3/8),2002年后为60%（3/5）,平均为46.2%(6/13)。结论：儿童横纹肌肉瘤病理类型以胚胎型为主,恶性程度高。晚期病例采取手术联合放、化疗,特别是大剂量化疗可取得较好疗效。