新生儿高钙血症

高钙血症在婴儿虽然少见,但可引起严重的后遗症,特别是肾损害,包括钙磷灰质沉着导致的远端小管功能障碍、肾结石和肾功能不全。本文提出了一些诸如原发性新生儿高钙血症、Ｗｉｌｌｉａｍｓ综合征、维生素Ｄ中毒、甲状旁腺激素及甲状旁腺激素相关蛋白分泌紊乱所致高钙血症的钙代谢失衡等资料,强调了应恰当地观察及诊治急慢性高钙血症。     

新生儿高钙血症9例临床分析

新生儿高钙血症较少见 ,其后遗症却非常严重 ,特别是肾损伤 ,它包括钙磷灰质导致的远端肾小管功能障碍 ,肾结石和肾功能不全。随着人们对补钙的日益兴起 ,新生儿高钙血症越来越受到重视。我们于 1 996～ 2 0 0 0年共收集我院及平度 ,滨州市妇幼保健院共9例患儿 ,现报告如下。临床资料1 .一般资料男 6例 ,女 3例 ,日龄 <7天 2例 ,>7天7例 ,足月儿 4例 ,早产儿 5例 ,体重 <2 50 0ｇ3例 ,大于 2 50 0ｇ者 6例 ,均在 1 50 0ｇ～ 31 0 0ｇ范围内。2 .临床表现 :哭声低 4例 ,呼吸困难 2例 ,呕吐 3例 ,肌张力低 2例 ,便秘 1例。3.辅助检查 :游离钙 …     

新生儿高钙血症11例临床分析

新生儿高钙血症较少见 ,它所引起的肾脏损害却十分严重。１９９６年～２０００年我院与平度妇幼保健院共收治１１例新生儿高钙血症 ,现报告如下。临床资料男７例 ,女４例 ;早产儿６例 ,足月儿５例 ;年龄为生后２天～２８天 ;体重１５００ｇ～３１００ｇ。临床表现 :哭声低下４例 ,呼吸困难２例 ,呕吐４例 ,肌张力低下２例 ,便秘１例。低血镁１例 ,低血糖２例 ,低血磷４例 ,血清钙增高９例 ,离子钙升高１１例 ;心电图 :心动过缓２例 ,传导阻滞１例 ;Ｂ超 :甲状旁腺增生２例 ;Ｘ线示长骨骨膜下皮质吸收１例。诊断标准 :血清离子钙超过正常高限…     

新生儿高钙血症

高钙血症在婴儿虽然少见,但可引起严重的后遗症,特别是肾损害,包括钙磷灰质沉着导致的远端小管功能障碍、肾结石和肾功能不全。本文提供了一些诸如原发性新生儿高钙血症、Williams综合征、维生素D中毒、甲状旁腺激素及甲状旁腺激素相关蛋白分泌紊乱所致高钙血症的钙代谢失衡等资料,强调了应恰当地观察及诊治急慢性高钙血症     

肾病综合征患儿水肿发生机制及治疗

肾病综合征是儿科常见的肾小球疾病,水肿是肾病综合征患儿常见的重要体征,在一定程度上影响患儿的生活质量和疾病预后。肾病综合征水肿的发生可能存在多种机制,近代学者提出了“充盈过多”学说,即患儿存在肾脏“原发性”水钠潴留（与低白蛋白血症、肾素一血管紧张素一醛固酮系统无关）而导致血容量增加、水肿形成。肾病综合征患儿除积极治疗原发病外,水肿的对症处理主要包括低盐饮食、限制入量和利尿治疗,其关键在于判断水肿的程度和准确评估机体的血容量状态,从而采取不同的利尿方案。     

川崎病发病机制及治疗研究进展

川崎病是一种以全身急性血管炎性病理改变为主的自身免疫性疾病,是儿童获得性心脏病的主要病因.川崎病可引起冠状动脉病变的发生,其病因和发病机制目前尚不清楚.随着川崎病发病率的逐年上升,越来越受到临床医生的关注和重视.该文主要综述了川崎病的病因,发病机制及治疗的研究进展.     

丙酸血症发病机制及诊治研究进展

丙酸血症是一种较常见的有机酸血症,临床表现缺乏特异性。既往因为缺乏可靠的诊断方法,所以确诊困难,误诊率较高。随着串联质谱和气相色谱-质谱技术在遗传代谢疾病检测中的应用,越来越多的患儿得到确诊,并得到有效的治疗。近年来有关本病的发病机制、诊断和治疗成为国内外研究热点。现就本病的发病机制和诊治研究进展作一介绍。     

儿童非霍奇金淋巴瘤合并高钙血症1例并文献复习

目的探讨儿童恶性肿瘤相关性高钙血症临床特征,提高对本病的认识及抢救成功率。方法结合1例高钙血症患儿的临床及实验室资料并进行相关文献复习。结果 1例9岁女孩,因原发于腹部的非霍奇金淋巴瘤(成熟B细胞表型)入院,入院后嗜睡、少尿,查血钙5.36 mmol/L,迅速出现肾功能衰竭,经补液、利尿及血液透析等治疗后血钙下降。结论儿童非霍奇金淋巴瘤合并高钙血症罕见,儿科血液专业医师应充分认识本病的危险性及其治疗原则。     

Castleman病的发病机制及治疗研究进展

Castleman病(CD)为一种罕见的淋巴增殖性疾病,可根据受累部位及临床表现进行多种分类。与成人相比,儿童CD病例相对罕见,仅有少数病例报道。CD的发病多认为与IL-6升高有关,近年来对该病机制及治疗研究更加深入。     

重症肌无力的免疫发病机制及相关治疗进展

重症肌无力（MG）是一种自身免疫性疾患。主要发病机制是通过自身抗体的产生,导致肌肉运动终板乙酰胆碱受体（AchR）密度下降。研究证实,抗AchR抗体、肌肉特异性激酶（MuSK）抗体及多种针对其他肌肉胞浆蛋白的抗体与重症肌无力的发病相关。该病治疗主要采用胆碱酯酶抑制剂、肾上腺皮质类固醇或其他免疫抑制剂、胸腺切除术、血浆置换和免疫球蛋白等。应根据病人及疾病特点采取个体化的治疗方案,干细胞疗法为难治性MG提供了一条新的治疗。     

Effectiveness of pamidronate in severe neonatal hypercalcemia caused by subcutaneous fat necrosis: a case report

Subcutaneous fat necrosis of the newborn (SCFN) is a panniculitis that develops in fatty areas during the first weeks of life after foetal distress or perinatal complications. Prognosis is generally good with complete regression, but it can be complicated by metabolic abnormalities like hypoglycemia, hypertriglyceridemia, thrombocytopenia, and also potentially life-threatening hypercalcemia. We report a case of severe hypercalcemia complicating SCFN in a newborn who was treated with hyperhydration, furosemide, prednisone, and pamidronate.     

Familial systemic lupus erythematosus with hypercalcemia

An 8-yr-old girl with familial systemic lupus erythematosus and several severe manifestations, including persistent thrombocytopenia, rapidly progressive renal failure and hepatic failure is described. The course was complicated by the occurrence of hypercalcemia, hypophosphatemia and elevated levels of parathormone, an association not previously reported in children.     

重症手足口病并发神经源性肺水肿的机制

重症手足口病可并发神经源性肺水肿,严重者导致死亡.肺水肿的发生可能与中枢神经系统损伤后神经因素、体液因素、生物活性因子等多方面改变有关.研究重症手足口病并发神经源性肺水肿的发病机制从而采取积极有效的措施及时阻断并发症的发生具有重要意义.     

Pamidronate as first-line treatment of hypercalcemia in neonatal subcutaneous fat necrosis: A case series

BackgroundSubcutaneous fat necrosis (SCFN) can be complicated by severe hypercalcemia, which is frequently asymptomatic. Nephrocalcinosis is associated with hypercalcemia and, in other clinical settings, has been linked to furosemide and glucocorticoid use. First-line bisphosphonate therapy treating hypercalcemia in neonatal SCFN is not well described.ObjectivesTo describe the biochemical changes and risk of nephrocalcinosis in infants with hypercalcemia, secondary to neonatal SCFN, treated with initial pamidronate.MethodsA retrospective chart review of five infants treated with initial pamidronate and without furosemide or glucocorticoids. Data were collected on the following: timing of presentation, therapeutic response, and presence of nephrocalcinosis.ResultsHypercalcemia resolved after 2.8±1.7 days; this is compared to 7.6±2.8 days from previously reported cases utilising alternative therapies (P=0.012). There were no episodes of rebound hypercalcemia or hypocalcemia. Nephrocalcinosis was present in four of five cases. When including published cases, age at diagnosis was associated with presenting serum calcium (P=0.003) and nephrocalcinosis was associated with higher serum calcium (P=0.014) and time from SCFN to hypercalcemia diagnosis (P=0.002).ConclusionsThis retrospective case series demonstrates that first-line pamidronate treatment was effective and safe in the resolution of hypercalcemia. Nephrocalcinosis was observed, despite the avoidance of furosemide and glucocorticoid therapy, and associated with greater disease severity and duration of hypercalcemia.     

Severe neonatal hypercalcemia caused by subcutaneous fat necrosis without any apparent cutaneous lesion

Subcutaneous fat necrosis is a classic, albeit uncommon, cause of neonatal hypercalcemia. It occurs in newborn infants within the first month of life following a complicated delivery. The diagnosis is usually easy because of the presence of red-purple plaques in fatty areas along with firm subcutaneous nodules. A 1-month-old neonate, born strangled by her umbilical cord, presented with diarrhea and hypercalcemia (3.46 mM) with an initial physical examination considered normal. Her biological evaluations were as follows: P = 1.37 mM (1.6–2.2); PTH = 3 ng/L (12–65); 25-OH vitamin D = 87 nM (23–113); (1,25)-OH₂ vitamin D = 192 ng/L (20–46). The third day, a careful exam of the whole cutaneous surface revealed small firm subcutaneous nodules in the ischial region. Despite the absence of any visible skin modification, the association of perinatal stress and high (1,25)-OH₂ vitamin D level with subcutaneous nodules led to the diagnosis of subcutaneous fat necrosis. She was treated with oral prednisone for 45 days. Serum calcium levels normalized within a week, and the nodules disappeared without complications. Conclusion: Subcutaneous fat necrosis may induce severe hypercalcemia without any visible cutaneous lesion. No funding or grant was received for this study.     

Fatal parathyroid hormone-related protein-induced humoral hypercalcemia of malignancy in a 3-month-old infant

Parathyroid hormone-related protein (PTHrP) is the factor responsible for the syndrome of humoral hypercalcemia of malignancy (HHM). The syndrome is well documented in adult cancer patients, but has not previously been described in young children. We report the case of a 3-month-old infant who developed refractory hypercalcemia (peak total calcium 13.8 mg/dl; normal 8.5–10.5, ionized calcium 3.3 meq/l; normal 2.0–2.5) associated with a high-grade, poorly differentiated malignant hepatic sarcoma. Parathyroid hormone (intact) levels were suppressed (7.5 pg/ml; normal 10–65). Fractional excretion of phosphate was markedly elevated (73.5%; normal 8%–20%) as were urinary cAMP levels (12.48 nmol/dl glomerular filtrate; normal 1.83–4.47) suggesting a PTH-like effect. Increased levels of PTHrP were present both in the serum (4.9 pmol/l; normal for adults <1.5) and ascitic fluid (6.1 pmol/l). Since previous studies have demonstrated a potential role for PTHrp in the regulation of embryonal tissue differentiation and transmembrane calcium flux, our observation of elevated PTHrP levels associated with the development of a poorly differentiated hepatic sarcoma in a young infant may provide insight into the molecular mechanisms underlying HHM. We suggest that serum or plasma PTHrP levels be determined in all children with hypercalcemia of malignancy in whom the hypercalcemia cannot otherwise be explained.     

Pathogenesis of retinopathy of prematurity and possible preventive strategies

Retinopathy of Prematurity (ROP) occurs when premature birth interrupts normal retinal vascular development. Postnatal tissue oxygen levels are significantly higher than those present in utero. Oxygen therapy further increases oxygen levels in the developing retina. Hypoxia driven, VEGF mediated, retinal endothelial cell proliferation is reduced. Low IGF-1 levels may also contribute to delayed retinal vascular development. The neural structures of the peripheral avascular retina continue to develop, and become more metabolically active. Complex, as yet poorly understood abnormalities of structural and molecular interactions between immature endothelial cells and immature astrocytes at the anterior "leading edge" of retinal vascular development leads to the development of an ROP ridge. VEGF produced by the hypoxic peripheral retina, along with structural abnormalities of cell relationships within, and at the vitreoretinal interface of the ROP ridge, results in extraretinal angiogenesis - stage 3 ROP. Stage 3 ROP may resolve spontaneously, or may progress to traction retinal detachment and blindness.     

不同年代新生儿肺动脉高压的临床病因分析

目的 研究不同年代影响新生儿肺动脉高压发生的临床病因与病情发展的关系.方法 回顾性分析2006年6月至2012年5月北京儿童医院NICU收治的169例肺动脉高压患儿的临床资料,按时间顺序分为前期组79例（2006年6月至2009年5月）及后期组90例（2009年6月至2012年5月）,分别统计患儿的性别、胎龄、原发病、心脏超声检查情况.分析不同年代肺动脉高压患儿的主要临床病因及病情.结果 前期组入院时间（2.15±1.2）d,晚于后期组（1.41±0.7）d;前期组原发病中胎粪吸入综合征25例（31.6％）,后期组14例（15.6％）,两组差异有统计学意义（P＜0.05）.其他原发病如先天性膈疝、新生儿呼吸窘迫综合征、吸人性肺炎、湿肺、新生儿感染性肺炎/败血症、新生儿窒息两组间差异无统计学意义（P＞0.05）.前期组早产儿11例（13.9％）,后期组早产儿23例（25.6％）,两者间差异有统计学意义（P＜0.05）.足月儿与过期产儿两组间差异无统计学意义（P＞0.05）.入院后进行床边超声心动图检查,轻度及中度肺动脉高压两组差异无统计学意义（P＞0.05）.发生重度肺动脉高压的患儿前期组较后期组明显增多（26例vs 17例）.结论 随着我国围生期监测及产时复苏技术的提高,由胎粪吸入综合征引起的肺动脉高压并转入上级医院救治的患儿有所减少.早产儿中发生肺动脉高压的比例有所增加,肺动脉高压患儿转入NICU的时间缩短,从而发生重度肺动脉高压的患儿相对减少,给治疗及改善预后提供了有力支持.     

脓毒症急性肾损伤发病机制的研究进展

脓毒症急性肾损伤是脓毒症多器官功能障碍的表现之一.当出现急性肾损伤时,往往提示病情危重.脓毒症急性肾损伤主要与肾脏血流动力学改变、缺血再灌注损伤、直接的炎症损伤、凝血和血管内皮细胞功能紊乱及细胞凋亡等有关.     

Pathogenesis of neonatal necrotizing enterocolitis: a study of the role of intraluminal pressure, age and bacterial concentration

The pathogenesis of neonatal necrotizing enterocolitis (NEC) is unknown. Intestinal dilatation and preferred occurrence of NEC at sites of bacterial overgrowth (colon and ileum) are common findings. The study attempted to produce NEC with increasing intraluminal pressures and bacterial concentrations in two different aged groups of rats. First, 10-cm terminal ileum segments were isolated with intact vascular pedicles in 1-and 3-month-old rats, and a dose of 10¹¹ E. coli in 1 ml was injected into each segment. Intraluminal pressure was sustained for 1 h at 150, 100, 50 and 0 cmH₂0, respectively, in four experimental groups (n=6). The isolated loop was then returned to the abdominal cavity and assessed grossly for NEC after 24 h. Histological examination was performed by a pathologist (KWC) who was blinded to the procedures. Second, the procedure was repeated with doses of 10⁸, 10⁵ and 0 bacteria/ml (n=6) at intraluminal pressure of 100 cmH₂0 in 1-month-old rats. Third, in another experimental group, oxygenation of the pedicled loop was assessed by oximetry as the intraluminal pressure increased and the findings were correlated with aortic blood pressure. The blood pressures (mean±SD) for 3- and 1-month-old rats were 110±6 and 72±4 mmHg, respectively. Hypoxia (<50% oxygen saturation) of the bowel was detected when the intraluminal pressure exceeded the mean blood pressure. The relative incidences of NEC in the bowel with intraluminal pressure above and below mean blood pressure were 100% (6/6) vs. 4% (1/24; P<0.05) in 3-month-old rats, and 100% (12/12) vs. 11% (2/18; P<0.05) in 1-month-old rats. There was no occurrence of NEC in bowel injected with 10⁵ E. coli/ml and less at 100 cm intraluminal pressure. Increased intraluminal pressure results in bowel hypoxia and in the presence of adequate bacterial concentration predisposes to the development of NEC. Young age is associated with a lower threshold for increased intraluminal pressure leading to NEC.