囊性纤维化病

囊性纤维化病（CrstieFibrosis，简称CF）是欧美白种人常见的致命性疾病，为常染色体隐性遗传病，主要特征为肺部阻塞性病变、胰腺功能不全、消化不良及由此引起的并发症。本病在黄种人中有散发病例，国内最近曾有2例报道。现就CF的基因、病理、临床、诊断及治疗综述如下。发病率及死亡率在白种人出生中纯合于遗传占0．1％～0．05％，杂合于携带者在美国白人中占5％。华盛顿D·C区的黑人发病率为新生儿中的1／17000，而新墨西哥的印地安人发病率高达3．75％。澳大利亚的发病率为活产婴儿的0．05％，基因携带车为4％。死亡率出生头1年是7…     

囊性纤维化病2例报告

囊性纤维化病(Cystic Fibrosis of Pancreas)又名粘滞病(Mucovisidosis),以欧美白种人多见,东方黄种人少见,可发生于儿童或成人,是一种威胁人类生命的遗传性疾病。主要特征为慢性阻塞性肺病、消化不良及由此而引起的并发症。临床表现易与儿     

儿童囊性纤维化伴铜绿假单胞菌感染2例

对2018年4月至2019年6月四川省人民医院儿科收治的2例感染铜绿假单胞菌囊性纤维化(CF)患儿资料进行分析。例1为11岁女童,既往无反复呼吸道感染史,首次痰培养发现铜绿假单胞菌,反复纤维支气管镜检查下可见大量黄白色分泌物附着,胸部CT示双肺支气管周围多发斑点影及树芽征。 CFTR基因检测结果示3处杂合突变...     

肺移植治疗儿童囊性纤维化1例北大核心CSCD

对首都医科大学附属北京儿童医院呼吸科2018年6月收治的1例囊性纤维化接受肺移植手术患儿资料进行回顾性分析。患儿,女,10岁,间断咳嗽、咯黄痰4年余,杵状指阳性,肺部高分辨CT(HRCT)提示支气管扩张和黏液嵌塞,鼻窦HRCT提示鼻窦炎。患儿囊性纤维化跨膜调节因子(CFTR)基因复合杂合突变,汗液试验阳性,免疫球蛋白E(IgE)和嗜酸性粒细胞增高,烟曲霉特异性IgE阳性。诊断囊性纤维化、变应性支气管肺曲霉菌病、鼻窦炎,予抗感染、糖皮质激素及对症治疗,之后21个月内反复出现呼吸困难、呼吸衰竭,肺功能进行性下降,于2020年3月接受双肺移植手术,目前术后1年3个月余,恢复良好。     

8例囊性纤维化患儿临床及基因突变分析北大核心CSCD

目的总结分析囊性纤维化(cystic fibrosis,CF)患儿的临床及基因突变位点,以提高对CF的认识,减少误诊、漏诊。方法回顾性分析河北省儿童医院2018~2021年确诊的8例CF患儿的病历资料。结果8例患儿(男5例,女3例),诊断年龄为3~48个月(中位年龄8个月),发病年龄为0~24个月(中位年龄2.5个月)。临床表现为反复呼吸道感染7例,鼻窦炎3例,支气管扩张4例,腹泻8例,脂肪泻3例,可疑胰腺功能不全6例,胰腺CF 1例,营养不良5例,假性Bartter综合征4例。最常见的呼吸道病原为铜绿假单胞菌(4例)。经高通量测序、多重连接探针扩增技术和Sanger测序验证共发现16个变异位点,包括移码突变5个,无义突变4个,错义突变4个,外显子缺失2个,剪接突变1个。8例患儿均检出CFTR基因突变。最常见的基因突变类型是p.G970D(3例),观察到1例F508del基因突变。检出4个新发现的变异:deletion exon15、c.3796_3797dupGA(p.I1267Kfs*12)、c.2328dupA(p.V777Sfs*2)、c.2950G>A(p.D984N)。结论p.G970D为CF患儿最常见的突变类型。对于临床上反复呼吸道感染,合并或不合并消化系统表现和假性Bartter综合征,以及呼吸道病原学检测示铜绿假单胞菌阳性的患儿,需警惕CF。     

假性Bartter综合征表现的囊性纤维化2例并文献复习

目的总结两例假性Bartter综合征(pseudo-Bartter syndrome,PBS)表现的囊性纤维化的临床特点并文献复习。方法回顾性分析2017—2018年在深圳市儿童医院呼吸科确诊的2例囊性纤维化患儿的临床资料,总结合并PBS表现的囊性纤维化的临床特点并复习相关文献。结果例1男,1岁;例2男,7个月;均有慢性咳嗽表现,都有间断发作性频繁呕吐,合并有低钠、低钾、低氯血症和代谢性碱中毒,呈PBS表现,其中例1反复发作PBS2次,常年脂肪泻,汗液试验氯离子浓度102 mmol/L,采用二代测序方法证实患儿存在CFTR基因复合杂合突变(c.1423delC/c.1657CT),并且分别来源于父母亲;例2反复发作PBS 5次,汗液试验氯离子浓度91 mmol/L和97 mmol/L,采用二代测序方法证实患儿存在CFTR基因复合杂合突变(c.595CT/c.95TG),并且分别来源于父母亲,均确诊囊性纤维化。文献回顾发现我国合并假性Bartter综合征的囊性纤维化患者共有11例,均同时有营养不良,10例有慢性或反复呼吸道感染,2例有慢性腹泻,大部分病例(9/11)发生在我国南方和沿海气候温暖地区,确诊年龄中位数是11月龄。结论在中国,对有假性Bartter综合征表现的患儿,伴慢性呼吸道感染时需警惕囊性纤维化,应及早行汗液试验和CFTR基因检测进一步明确诊断。     

囊性纤维化儿童营养状况与临床特征和肺功能的相关性分析

目的 了解囊性纤维化（cystic fibrosis, CF）儿童的营养状况,并分析营养不良与临床特征、肺功能的关系。方法 回顾性分析2016年1月—2023年6月收治的CF患儿的临床资料,比较不同营养状态患儿的临床特征,分析营养不良与肺功能的相关性。结果 共纳入52例CF患儿,男童25例（48%）,女童27例（52%）,年龄7个月至17岁,临床表现主要以呼吸系统（96%,50/52）为主。营养不良发生率为65%(34/52),以中重度营养不良（65%,22/34）为主。营养不良组患儿病程更长,合并消化系统症状比例更高,血清白蛋白降低更明显（P<0.05）。营养不良组患儿第1秒用力呼气量占预测值百分比、第1秒用力呼气量/用力肺活量、用力呼出25%肺活量的呼气流量占预计值百分比、用力呼出50%肺活量的呼气流量占预测值百分比、用力呼出75%肺活量的呼气流量占预测值百分比、最大呼气中期流量占预测值百分比均低于营养正常患儿（P<0.05）。相关性分析显示,体重指数Z评分与上述6个肺功能指标均呈正相关（P<0.05）。结论 CF患儿营养不良发生率高,与肺功能下降有关,较高体重指...     

中国人囊性纤维化

近年来,囊性纤维化（cystic fibrosis,CF）在中国人中诊断例数明显增加。与欧美CF不同,中国人CF临床症状不典型,常仅见支气管扩张,胰腺外分泌功能不全较少见,采用欧美常用的基因筛查包不能检出中国常见的基因型,容易误诊漏诊。CF的治疗经验来自于欧美,中国患者的治疗经验普遍不足,也缺乏特异性治疗。该文对中国CF的流行病学、临床表现、诊断、治疗等方面的进展进行综述,以提高临床医生对本病的认识,做到早诊断、早治疗,降低病死率。     

Gastrointestinal radiological findings in cystic fibrosis

A quantitative assessment of the radiological findings in the gastrointestinal tract has been made in 27 patients (age 1/2–16 years) with cystic fibrosis (CF) and in 37 control patients (age 2–13 years). In the CF patients a widening of the plicae and the intestinal wall, an increase of the intestinal diameter and a longer transit time through the small intestine and the right colon were found. In all CF patients filling defects and spiculae were noticed, especially in the colon and small intestine, but also in the duodenum and stomach. Diagnostically less important findings such as decreased peristalsis, flocculation, fragmentation, segmentation and a mottled appearance of the colon were observed more often in the CF patients than in the controls. Spiculae are thought to be due to intrusion of the contrast medium into dilated crypts and the filling defects to be caused by the adjacent mucosa. This pattern in the small intestine is rare in other conditions, and the radiological picture of the alimentary canal in cystic fibrosis thus is often a very characteristic one.     

Abdominal manifestations of cystic fibrosis in children

Pulmonary complications remain the main cause of mortality in cystic fibrosis, but the presenting symptoms in children are often related to gastrointestinal or pancreaticobiliary disease. Furthermore, abdominal manifestations are now seen throughout childhood, from infancy to adolescence. The child might present in the neonatal period with meconium ileus or its attendant complications. The older child might present with distal intestinal obstruction syndrome or colonic stricture secondary to high doses of pancreatic enzyme replacement. Less-common gastrointestinal manifestations include intussusception, duodenitis and fecal impaction of the appendix. Most children also show evidence of exocrine pancreatic deficiency. Radiologically, the combination of fat deposition and pancreatic fibrosis leads to varying CT and MR appearances. A higher than normal incidence of pancreatic cysts and calcification is also seen. Decreased transport of water and chloride also increases the viscosity of bile, with subsequent obstruction of the biliary ductules. If extensive, this can progress to obstructive cirrhosis, portal hypertension and esophageal varices. Diffuse fatty infiltration, hypersplenism and gallstones are also commonly seen in these patients. We present a pictorial review of the radiological appearance of these abdominal manifestations. The conditions are dealt with individually, together with typical appearances in various imaging modalities.     

Practical approach to the gastrointestinal manifestations of cystic fibrosis

Cystic fibrosis (CF) is the most common, life‐shortening, genetic illness affecting children in Australia and New Zealand. The genetic abnormality results in abnormal anion transport across the apical membrane of epithelial cells in a number of organs, including the lungs, gastrointestinal tract, liver and genito‐urinary tract. Thus, CF is a multi‐system disorder that requires a multi‐disciplinary approach. Respiratory disease is the predominant cause of both morbidity and mortality in patients with CF. However, there are significant and clinically relevant gastrointestinal, liver, pancreatic and nutritional manifestations that must be detected and managed in a timely and structured manner. The aim of this review is to provide evidence‐based information and clinical algorithms to guide the nutritional and gastrointestinal management of patients with CF.     

Exercise testing in pediatric lung transplant candidates with cystic fibrosis

Exercise testing is considered an important prognostic tool for the selection of pediatric lung transplant candidates with end-stage CF lung disease. To better understand the current practice as it pertains to exercise testing, a self-administered questionnaire was distributed to 25 pediatric lung transplant centers within the IPLTC across Australia, Europe, and North America. All centers perform standardized exercise tests. Fifteen centers perform one single-field test (6MWT/12MWT), while seven perform a six-min walk plus an additional test: SWT (N = 1), 3MST (N = 1), and CPET (N = 5). Frequency of testing is markedly different among centers. Two centers conduct exercise testing once, all others at multiple time points. Equipment availability and cost were no limitations, but lack of time (20%) and personnel (16%), and paucity of prognostic evidence (16%) and reference values (12%) were stated. Exercise testing is considered important and extensively used in the evaluation of pediatric lung transplant candidates with CF; methods of exercise test and the frequency of testing vary widely. We propose a prospective multicenter study to evaluate the efficacy of exercise testing and its prognostic value using a standardized protocol.     

Liver transplantation for cholestasis associated with cystic fibrosis in the pediatric population

The most common hepatic complications of cystic fibrosis (CF) are steatosis, fibrosis, biliary cirrhosis, atretic gallbladder, cholelithiasis, and sclerosing cholangitis. Cholestatic liver disease is a slow progressive disorder, but will stabilize for many patients. CF patients may suffer from the consequences of their liver disease and without liver transplantation, variceal hemorrhage, malnutrition, or end-stage liver disease can lead to death. Prospective data were collected and reviewed on 311 liver transplants performed in 283 patients at the Children's Medical Center of Dallas between October 1984 and November 2000. Ten children received an orthotopic liver transplant (OTLX) for end-stage liver disease associated with cystic fibrosis. Pulmonary function tests were obtained preoperatively in all cases. There were nine boys and one girl. Six are currently alive, and four are dead. Both patient and graft survival was 5.75 yr. Among those currently alive, mean patient and graft survival is 7.71 yr (range 0.10-12.62 yr). Mean patient and graft survival of those who died was 2.35 yr (range 0.78-5.33 yr). No survivor required re-transplantation and currently, all have normal serum aminotransferase values. Chronic sinusitis was not a significant pre- or post-transplant morbidity, although systematic radiographic evaluation of the sinuses did not occur. Pulmonary deaths occurred in three patients from pulmonary hemorrhage, pulmonary infection with Aspergillus and Candida glabrata, and acute bronchopneumonia associated with polymicrobial sepsis because of Pseudomonas, Klebsiella, and Candida albicans 1.44, 0.78, and 1.83 yr, respectively, after transplantation. The fourth death was associated with chronic rejection, and occurred 5.33 yr after transplantation. All non-survivors were below the 5th percentile for height and weight at the time of liver transplantation. Mean age at transplantation was 9.72 yr (range 1.23-19.09, median 9.61). Survivors were transplanted at a younger age than non-survivors (mean of 9.21 yr vs. 10.66 yr), and had shorter waiting times from diagnosis of end-stage liver disease to transplantation (6.87 months vs. 13.83 months). Eighty percentage (n = 8) of patients had pretransplant variceal bleeds (83% of survivors, 75% of non-survivors). While all non-survivors had a history of meconium ileus and preoperative need of pancreatic enzymes, only 67% of those alive experienced these complications. Preoperative forced vital capacity FVC was 103% for survivors and 95% for non-survivors. The corresponding numbers for forced expiratory flow (FEF) 25-75 were 74-84% respectively. Preoperative Aspergillus was identified in 30% of patients (n = 3). Two of these patients are alive. Cystic fibrosis constitutes an indication for 3.5% of pediatric liver transplants. Evaluation and transplantation for end-stage liver disease associated with cystic fibrosis should be undertaken at an early age. Most deaths were associated with pulmonary/septic events, and occurred less than 2 yr after OLTX. Those children who did not survive had poor growth and nutrition, prolonged waiting times prior to transplantation, were transplanted at an older age, and had a higher incidence of pancreatic insufficiency and meconium ileus. The presence of Aspergillus in the sputum does not constitute a contraindication for OLTX.     

Clinical manifestations and management of pediatric HIV infection

HIV infection has emerged as a colossal problem with epidemic proportions. According to an estimate from UNAIDS about 36.1 million people all over the world are infected at present. In India about 3.5 million people are infected. The infection has evolved into phase II process of disease evolution, spreading from high-risk population to the general population. The antenatal HIV seropositivity has shown a steady increase from 0.1% to 2% in some tertiary care hospitals in Mumbai. Pediatric HIV infection presents with diverse clinical manifestations. In developing countries like India, diagnosis of infection during first year of life in perinatally exposed infants poses a problem due to lack of easy accessibility and increased cost of diagnostic facilities like HIV-PCR, CD4/CD8 counts and viral cultures. Moreover, lack of adequate drugs and exorbitant cost of sustaining antiretroviral therapy complicates the management issues. An assortment of antiretovirals is available in USA and other developed countries. In India drugs like zidovudine, lamivudine, stavudine, nevirapine and indinavir are available and are used in symptomatic patients. CDC has defined definite treatment guidelines for pediatric population recently. These guidelines need to be modified in our set up. At the present juncture in India the emphasis remains on the prevention and treatment of opportunistic infections like tuberculosis and pneumocystis carinii and on prevention of perinatal transmission with zidovudine. This brief review deals with various clinical manifestations as relevant in a developing country like India and recent advances in antiretroviral therapy.