SCNN1B基因突变致全身型假性醛固酮减少症1型1例报告并文献复习

目的探讨SCNN1B基因突变所致的全身型假性醛固酮减少症1型(PHA1)的早期诊断和治疗。方法回顾分析1例PHA1患儿的临床资料,并对全身型PHA1尤其是SCNN1B基因突变的全身型PHA1进行文献复习。结果患儿,女,4岁3个月,出生1个月时诊断为假性醛固酮减少症,服用聚苯乙烯磺酸钙、枸橼酸钠后仍反复出现脱水性休克、低钠血症、高钾血症、酸中毒,且反复下呼吸道感染及皮疹。基因测序显示SCNN1B基因编码区第2外显子存在c.118CT错义突变,第4内含子存在c.776+1GA错义突变。查询HGMD数据库、ESP6500siv2_ALL、千人基因组(1000g2015aug_ALL)和dbSNP 147数据库,两种突变均未见报道。未检测到高IgE综合征相关的基因突变。目前国内无SCNN1B突变致全身型PHA1病例报道。国外报道4例,发病年龄为出生3天～3周,表现为呕吐、反应差、休克、脱水、高血钾、低血钠、代谢性酸中毒、流清涕、反复下呼吸道感染,4例中1例死亡。结论 SCNN1B突变所致PHA1较罕见,为常染色隐性遗传,新生儿顽固性低钠血症、高钾血症和代谢性酸中毒应考虑PHA1可能,基因检测可明确诊断及判断预后。     

新生儿多脏器型醛固酮减少症Ⅰ型2 例报告并文献复习

目的探讨新生儿多脏器型醛固酮减少症1型(PHA1)的临床特点。方法回顾分析2例新生儿PHA1的临床资料,并复习文献。结果 2例新生儿,男女各1例,均以脱水、反应差、喂养困难为表现,1例临床治愈,另外1例死亡。基因检测发现SCNN1G基因复合杂合突变。本例及文献报道共40例PHA1型患儿,其中男19例,女21例;发病日龄7～21天,平均(9.4±8.28)天;家族中有类似症状病史6例(15.0%);40例(100%)患儿均有反应差及高血钾、低血钠;食欲减退或拒乳等喂养困难38例(95.0%),呕吐21例(52.5%),腹泻20例(50.0%),皮疹15例(37.5%),酸中毒38例(95.0%),脱水37例(92.5%),体质量不增37例(92.5%)。其中34例行基因检测,发现上皮钠通道(ENaC)基因不同类型变异。21例(52.5%)行血液净化治疗。4例(10.0%)放弃治疗死亡,临床治愈4例,病情稳定18例,病情不稳定14例。结论PHA1早期表现非特异,部分有类似家族史,对疑似患儿应尽早行血醛固酮、肾素及基因检测,早期诊断可改善预后。     

胎粪性肠梗阻并Ⅰ型假性醛固酮减少症1例

目的 提高对胎粪性肠梗阻和Ⅰ型假性醛固酮减少症的认识,探讨胎粪性肠梗阻与囊性纤维化的关系.方法 分析1例胎粪性肠梗阻并Ⅰ型假性醛固酮减少症患儿临床和随诊资料,并复习相关文献.结果 该患儿为早产极低出生体质量儿,出生24 h未排胎粪,渐出现腹胀,出生4 d行剖腹探查术,发现回肠有稠厚胎粪充填并穿孔,行小肠部分切除、双口小肠造瘘术.出生30 d出现低钠、高钾、高醛固酮、高肾素血症,予每天额外补充9 g/L盐水.出生6个月,停止额外9 g/L盐水补充.出生8个月行小肠造瘘口端端吻合术,恢复良好.18个月时达同龄儿童的追赶性生长,无囊性纤维化表现.结论 本例胎粪性肠梗阻并Ⅰ型假性醛固酮减少症诊断成立.我国新生儿胎粪性肠梗阻与囊性纤维化的关系与白种人为主的地区有所不同.     

假性醛固酮减少症Ⅰ型患儿2例临床与基因分析

目的了解2例假性醛固酮减少症Ⅰ型患儿的临床和SCNN1A基因突变特点。方法对2例疑难病例患儿及其父母进行SCNN1A基因检测,结合临床表现和文献复习对患儿进行诊治。结果 2例患儿经基因检测确诊为假性醛固酮减少症Ⅰ型。经补钠降钾对症治疗后,2例患儿的血电解质均恢复正常,生长发育同正常同龄儿。结论对表现为低钠性脱水、高血钾和代谢性酸中毒患儿进行鉴别诊断时,需考虑假性醛固酮减少症的可能。基因检测有助于早期诊断和正确治疗。     

慢性肾脏病母亲的新生儿结局

约3%的孕妇患有慢性肾脏病（chronic kidney disease,CKD）。该文复习了关于CKD母亲（包括透析和肾移植患者）的新生儿结局的文献。文献显示：妊娠合并CKD会增加新生儿发生早产、低出生体重及小于胎龄儿的风险,但不增加发生先天结构畸形的风险;从远期结局来看,对子代体格发育、免疫功能无显著影响;子代的神经发育结局与早产、低出生体重相关,与宫内药物暴露无关。仍需更进一步的研究及随访以探讨CKD母亲的新生儿结局。     

新型冠状病毒Omicron变异株感染新生儿临床特征的多中心横断面调查

目的 探究新型冠状病毒Omicron变异株感染新生儿的临床特征。 方法 将2022年12月7日—2023年1月12日（新型冠状病毒Omicron变异株流行期间）深圳新生儿数据协作网27家医院542例确诊为新型冠状病毒感染的住院新生儿作为研究对象,采用横断面调查方法调查其临床特征。根据有无症状分为无症状感染组及有症状感染组,比较两组患儿的临床特征、实验室检查结果、胸部X线检查结果及转归。 结果 542例患儿中,男285例,女257例;515例（95.0%）为足月儿,27例（5.0%）为早产儿。无症状感染组60例,有症状感染组482例。轻型336例（69.7%）,中型125例（25.9%）,重型15例（3.1%）,危重型6例（1.2%）。发热是最常见的症状（434例,90.0%）,其次为咳嗽和/或吐沫（183例,38.0%）、鼻塞和/或流涕（131例,27.2%）、气促（36例,7.5%）、喂养不耐受（30例,6.2%）等。325例行胸部X线检查,其中肺部斑片状阴影或实变阴影136例（41.8%）,气胸2例（0.6%）,肺透过度降低2例（0.6%）,余185例（57.0%）未见异常。396例（73.1%）予治疗,其中对症治疗341例（86.1%）,使用抗生素治疗137例（34.6%）,免疫球蛋白治疗4例（1.0%）,呼吸支持治疗23例（5.8%）。542例患儿临床症状缓解后出院,住院时间中位数为5 d。有症状感染组白细胞计数、中性粒细胞计数、血红蛋白浓度、降钙素原水平低于无症状感染组（P<0.05）,而血小板计数和血糖水平高于无症状感染组（P<0.05）。有症状感染组中性粒细胞减少、血小板计数升高及血红蛋白浓度下降患儿比例均高于无症状感染组（P<0.05）。 结论 新型冠状病毒Omicron变异株感染新生儿多为轻型,以发热为主要表现。有症状感染患儿多伴有血中性粒细胞计数减少、血小板计数升高及血红蛋白下降等表现。患儿以对症治疗为主,预后良好。     

血小板减少症对新生儿脑室内出血的影响分析

摘要： 目的 研究血小板减少症与新生儿脑室内出血（IVH）发生的相互关系。方法 回顾性分析2009年1月至2011年12月在川北医学院附属医院新生儿重症监护室（NICU）中住院的血小板减少症新生儿625例,根据血小板计数以及血小板质量降低的严重程度分别分为4个亚组：轻度［（100 ~9/L;800 ~1289 fL/nL］、中度［（50 ~9/L;400 ~ 799 fL/nL］、重度［（30 ~9/L;240 ~ 399 fL/nL］、极重度（9/L;＜240 fL/nL）。纳入2级以上的IVH病例。卡方检验和Fisher’s准确检验用于分析每个单因素。亚组分析采用单因素方差分析、Logistic回归分析以及多元线性回归。结果 血小板减少症的发生率为21.2%。 IVH≥2级的发生率在血小板减少症新生儿中为13.7%,在非血小板减少症的新生儿中为6.4%（P＜0.01）。多元线性回归分析发现IVH严重程度与血小板计数减少程度无关（P = 0.3）,而与血小板质量降低程度有关（P＜0.01）。结论 血小板减少症是引发IVH的危险因素,而且血小板质量的变化与IVH发生的严重程度密切相关。提示动态监测血小板质量的变化,可能有利于临床上对于IVH的预测和防治。     

表现为失盐危象的婴幼儿暂时性假性醛固酮减少症1例临床分析

目的探讨暂时性假性醛固酮减少症的诊断和治疗。方法回顾分析1例暂时性假性醛固酮减少症患儿的临床资料,并复习相关文献。结果女性患儿,3月龄初次出现电解质紊乱(低钠血症、高钾血症)和代谢性酸中毒,考虑为先天性肾上腺皮质增生症可能,予以激素治疗后未再随访。6月龄时再次出现电解质紊乱、代谢性酸中毒。实验室检查均提示17-羟孕酮无异常,血醛固酮、肾素水平升高。多项影像学检查提示泌尿道畸形(左侧重复肾畸形、左侧输尿管囊肿、左侧膀胱输尿管反流(III-IV级)。经积极控制感染、纠正水电解质紊乱症状很快缓解,血醛固酮、肾素水平迅速恢复正常。考虑为泌尿道畸形和/或泌尿道感染引起的暂时性假性醛固酮减少症故停用激素,积极抗感染治疗后外科手术治疗泌尿道畸形,随访中未再发生电解质紊乱及代谢性酸中毒。结论新生儿期后的婴幼儿失盐危象,须排查是否存在泌尿道感染和泌尿道畸形,并观察抗生素治疗后48小时内是否能迅速纠正水电解质紊乱,以避免过度检查和治疗。     

机器学习在新生儿坏死性小肠结肠炎诊疗中的研究进展

新生儿坏死性小肠结肠炎（neonatal necrotizing enterocolitis,NEC）以血便、腹胀、呕吐等为主要表现,是导致新生儿死亡的主要原因之一,早期识别和诊断对该病预后极为重要。机器学习的兴起和发展为早期、快速、准确识别该病提供了可能。该文总结近年来机器学习在NEC应用中的算法,分析算法揭示的高危预测因子,评价机器学习在NEC病因回溯、定义、诊断方面的能力和特点,探讨机器学习在NEC未来应用中的挑战及前景。     

美国新生儿重症监护室床旁即时超声检查的临床方案解读

2022年12月美国儿科学会发布了新生儿重症监护室（neonatal intensive care unit,NICU）床旁即时超声检查（point-of-care ultrasonography,POCUS）的临床方案。该方案概述了NICU中POCUS的发展和现状,并对NICU顺利开展POCUS的核心要素和实施准则进行了总结。该文对该临床方案的要点进行了解读,并对国内POCUS的开展现状进行了分析,为国内新生儿科开展POCUS提供参考。     

Multiple type I pseudohypoaldosteronism: neonatal management and outcome

Multiple type I pseudohypoaldosteronism (PHA-I) is an autosomal recessive condition with multiple target-organ unresponsiveness to aldosterone, manifested early after birth with severe salt-wasting and hyperkalemia. Case 1. Female infant born at term after an uneventful pregnancy. One female sibling died in the first week of life with hyperkalemia. The diagnosis of multiple PHA-I resulted from a picture of dehydratation, hyperkalemia and hyponatremia with increased plasma renin activity (PRA), plasma aldosterone and sweat electrolytes. The treatment consisted of salt and sodium bicarbonate supplements, restricted potassium intake, cation exchange resins and high fluid intake. During first year she was hospitalized for severe salt-losing crises. At 7 years of age, she needs salt and sodium bicarbonate supplements and cation exchange resins. She has a normal growth and neurodevelopment. Case 2. Seven-day female newborn with consanguinity in maternal family. Pregnancy and delivery were uncomplicated. On admission she was severely dehydrated with hyponatremia, hyperkalemia, metabolic acidosis and elevated PRA, plasma aldosterone and sweat electrolytes. She remained hospitalized for six months and she was dependent on high amounts of salt and sodium bicarbonate supplements, fluid intake and cation exchange resins. Growth and neurodevelopment are normal. CONCLUSIONS: Multiple PHA-I may be suspected in a newborn with salt-loss and hyperkalemia without glucocorticoid defect. The frequent episodes of dehydratation during the first year of life require long hospitalization. The improvement with age make possible an ambulatory control after the first year of life.     

Neonatal renal venous thrombosis followed by secondary pseudohypoaldosteronism

A male infant was diagnosed as having renal venous thrombosis (RVT) in association with bilateral flank masses, macroscopic hematuria, and thrombocytopenia. In the course of supportive treatment, hyponatremia, hyperkalemia, and metabolic acidosis became prominent. Plasma renin activity (PRA) and aldosterone increased markedly. Treatment with sufficient sodium chloride and sodium bicarbonate intake was effective. It is important to note that tubular damage by RVT causes secondary pseudohypoaldosteronism.     

Neonatal systemic candidiasis

: Systemic candidiasis is notoriously difficult to diagnose in neonates; however, it is frequently described and has a high mortality and morbidity. It is particularly likely to occur in extremely low birthweight babies, especially those receiving long-term parenteral nutrition and antibiotics. The clinical features are non-specific. Thrombocytopenia occurs in almost all cases of systemic candidiasis, but also in about half the cases of bacterial sepsis. Empirical antifungal therapy should be considered more readily for high-risk, clinically septic, thrombocytopenic babies.     

Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type I pseudohypoaldosteronism

We report a child with multiple target organ pseudohypoaldosteronism type 1 with frequent recurrent pulmonary infections caused by Pseudomonas aeruginosa and Pasteurella multocida and high levels of chloride in sweat, urine and nasal secretion. Repetitive faecal chymotrypsin samples have all shown pathological values in spite of no other sign of exocrine pancreas dysfunction. The similarities with cystic fibrosis and the importance of the salt content in bronchial fluid are discussed.     

Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis

Cystic fibrosis (CF) is an inherited disorder with a devastating prognosis. Determination of chloride concentration in sweat has been the gold standard test for diagnosing CF for over 50?years and still remains the primary screening test. However, now that the genetic cause is known and can be studied, genetic confirmation is mandatory in every suspected patient. We present a patient who had been clinically diagnosed and whose genetic testing could not confirm CF, leading us to search for other options that may also give a positive sweat test. The patient turned out to suffer type 1 pseudohypoaldosteronism, a condition that may cause severe dehydration, hyponatremia and hyperkalemia episodes if not diagnosed and treated early with sodium supplementation. We found a genetic variation in the epithelial sodium channel gene which has not been reported previously, and we discuss the possibility of it being the cause of our patient's phenotype. Conclusion: this patient clearly illustrates the usefulness of genetic confirmation for CF for the diagnosis and genetic counselling, even when it is clinically oriented, and describes a novel mutation of the amiloride-sensitive epithelial sodium channel possibly causing type 1 pseudohypoaldosteronism.     

Familial pseudohypoaldosteronism

The clinical course of two siblings with a severe form of pseudohypoaldosteronism was followed over a period of seven and five years respectively. Both children persistently had a high sodium-potassium excretion ratio in the urine, sweat, saliva, and stools as well as high serum concentrations of aldosterone and renin and an increased urinary excretion of tetrahydroaldosterone. Despite sustained treatment with sodium chloride (10-40 mmol/kg/d) and cation exchange resin (sodium polystyrole sulfonate 0.5-2 g/kg/d) they repeatedly developed episodes of salt wasting and hyperkalemia which occurred mainly during uncomplicated respiratory tract infections. Aldosterone receptor characteristics were studied in the cytosol of the rectal mucosa at ages 2.5 years and 6 months respectively. Compared to age matched controls there was a decreased affinity for aldosterone at the low affinity binding site. Among the members of the family, the father and one of his sisters had high concentrations of sodium in the sweat and an increased urinary excretion of tetrahydroaldosterone.     

Ⅰ型干扰素在系统性红斑狼疮中的免疫学效应

系统性红斑狼疮是一种临床表现多样的自身免疫性疾病,其免疫紊乱机制尚未完全阐明。既往研究已经表明I型干扰素与系统性红斑狼疮密切相关。Ⅰ型干扰素主要由巨噬细胞和树突状细胞产生,系统性红斑狼疮患儿的多种免疫细胞中干扰素刺激基因均显著增加。研究表明,系统性红斑狼疮患者体内的IFN-α与中性粒细胞胞外诱捕网互相促进,并可调节B细...