Abstract:
:Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC2. We describe a series of 12 patients, originating from six families all homozygotes to the p.R404Q (c.1211G > A) mutation of NPC1 gene; nine of them had significant pulmonary manifestations. All patients were followed in our medical center. Nine of the patients had pulmonary involvement, with recurrent pneumonia as the first manifestation in most, followed by recurrent wheezing episodes and subsequent development of interstitial lung disease with chronic need for oxygen support. Seven patients were reported of having interstitial disease by various imaging modalities.Conclusion: Pulmonary involvement in NPC1 is more common than previously reported. It is characterized as primary obstructive and restrictive lung disease and not only as part of neurologic sequel of NPC. It can lead to respiratory insufficiency and death from respiratory failure. What is Known: • Lung involvement has been described in only few patients with NPC. • Most reported NPC cases with pulmonary involvement were of NPC2. What is New: • Pulmonary involvement in NPC1 is more common than previously reported. • Pulmonary involvement in NPC1 should be considered as part of the disease and be thoroughly assessed and managed.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Staretz-Chacham O,Aviram M,Morag I,Goldbart A,Hershkovitz Edoi
10.1007/s00431-018-3219-6subject
Has Abstractpub_date
2018-11-01 00:00:00pages
1609-1615issue
11eissn
0340-6199issn
1432-1076pii
10.1007/s00431-018-3219-6journal_volume
177pub_type
杂志文章abstract::Sweet syndrome, also referred to as acute febrile neutrophilic dermatosis, is characterized by tender, red inflammatory nodules or papules that occur in association with infection, malignancy, connective tissue disease, or following exposure to certain drugs. Although drug-induced Sweet syndrome is rare, granulocyte c...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-010-1201-z
更新日期:2010-12-01 00:00:00
abstract::Changes of the complement components in the sera of 13 children with treated coeliac disease were studied after gluten challenge. The levels of C 1 and C3-activator (factor B) were significantly decreased at 4 h after the challenge, as were the levels of total complement (CH 50) and the components C 1, C 4 and C 1-ina...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01846034
更新日期:1980-08-01 00:00:00
abstract::Severe complications due to Shigatoxin-associated hemolytic uremic syndrome (STEC-HUS) currently present a serious challenge since no specific treatment for this condition is available. Eculizumab, a terminal complement inhibitor, has been used especially in STEC-HUS patients with severe neurological involvement, but ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-017-3077-7
更新日期:2018-03-01 00:00:00
abstract::IgG subclass levels were determined in 448 normal children from 6 months to 18 years of age and in 141 healthy adults by radial immunodiffusion using monoclonal antibodies. Age-normal percentile values were calculated for each year of age up to 18 years for IgG1, IgG2, IgG3 and in adults for all four subclasses. The b...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958271
更新日期:1989-12-01 00:00:00
abstract::Twenty patients with rheumatoid arthritis or Still's disease associated with growth failure were treated with human growth hormone, 7.5 to 17 U/m2 body surface per week. Five patients did not respond with better growth. In the remainder the mean growth rate increased from 1.9 cm/year (range: 0 to 3.3) to 6.2 cm/year (...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441894
更新日期:1979-01-18 00:00:00
abstract::We evaluated polymorphonuclear leucocyte (PMN) chemotaxis and cortisol levels in cord blood from 15 healthy term infants delivered by caesarean section and from 15 healthy vaginally delivered term infants. Mean neutrophil chemotaxis was significantly higher in infants delivered by caesarean section (78.3 +/- 23.4 micr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958427
更新日期:1991-05-01 00:00:00
abstract::We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00538945
更新日期:1979-06-28 00:00:00
abstract::Serum immunoreactive erythropoietin (siEPO) was determined in cord serum from neonates (n = 97, gestational age 36-43 weeks), in healthy children from birth to adolescence (n = 260) and in children with haematological (n = 30), renal (n = 10) and congenital heart diseases (n = 70). In healthy children siEPO levels dec...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959395
更新日期:1990-04-01 00:00:00
abstract:UNLABELLED:To evaluate the indications, underlying cardiac disorders, efficacy and complications involved with implantable cardioverter-defibrillators (ICDs) in paediatric patients in The Netherlands, the records of all patients aged 18 years or younger who underwent ICD placement were reviewed retrospectively. Between...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1668-1
更新日期:2005-07-01 00:00:00
abstract:UNLABELLED:To assess the efficacy of a serotonin re-uptake inhibitor, sertraline hydrochloride, in preventing recurrent neurocardiogenic syncope, we studied 15 patients (10 female; mean age 12.9 +/- 2 years) with positive head-upright tilt test and resistant to standard pharmacotherapy, atenolol or disopyramide. The pa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050704
更新日期:1997-10-01 00:00:00
abstract::A series of information processing tasks was administered to 22 PKU children aged 8.5 years who had been under dietary treatment since birth as well as to 20 controls of the same age. This contribution presents the results of two tasks from this series: a continuous performance task and a calculation task. The continu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02126298
更新日期:1990-01-01 00:00:00
abstract:UNLABELLED:We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tac...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-0015-x
更新日期:2006-02-01 00:00:00
abstract:UNLABELLED:About 50% of intersex cases are due to male pseudohermaphroditism, and of these cases, 50% are not clarified aetiologically. The association of idiopathic male pseudohermaphroditism and prenatal growth retardation has been recently reported. The aim of this study was to verify whether there was a difference ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1626-y
更新日期:2005-05-01 00:00:00
abstract::Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441748
更新日期:1986-02-01 00:00:00
abstract::Primary hyperparathyroidism is a rare endocrine disease in children and young adults. The early detection and treatment of primary hyperparathyroidism led to a marked decrease in classical bone and renal manifestations of the disease. Osteitis fibrosa cystica and brown tumors have become extremely rare clinical entiti...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0414-2
更新日期:2008-01-01 00:00:00
abstract:UNLABELLED:Blood transfusion increases blood volume and blood viscosity of the neonate. Since both volume expansion and increase in blood viscosity may be associated with increased pulmonary artery pressure, we studied effects of transfusion (10 ml of red blood cells per kilogramme of body weight) on right ventricular ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050661
更新日期:1997-07-01 00:00:00
abstract::Health-related quality of life (HRQOL) is an important indicator of the burden of illness in moderate-to-severe plaque psoriasis. This study evaluated self-reported generic HRQOL among pediatric patients with moderate-to-severe plaque psoriasis based on pooled baseline clinical trial data and compared them to four com...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1587-2
更新日期:2012-03-01 00:00:00
abstract::We report mother and son with the ulnar-mammary syndrome type Pallister: both had postaxial polydactyly in one upper limb and absence or hypoplasia of the axillary apocrine glands bilaterally. The mother had total lack of the mammary gland tissue and absence of one kidney. Her son also had unilateral oligodactyly, an ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444644
更新日期:1976-11-03 00:00:00
abstract::Growth hormone (GH) secretion was determined by evaluating ultradian GH profiles for 12 h and GH responses to insulin stimulated hypoglycaemia (ITT) in 28 stunted boys with beta-thalassaemia major aged 15.2-17.4 years, who presented with pubertal failure (FP). Healthy non thalassaemia prepubertal boys (n = 10) aged 7....
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01953984
更新日期:1993-09-01 00:00:00
abstract:UNLABELLED:This study compared the foot morphology of Spanish schoolchildren based on their body mass index and age and analyzed whether body mass index affects the child's foot development at primary school. Cross-sectional study of 1,032 schoolchildren (497 boys and 535 girls), 6-12 years old. Height and weight were ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1944-4
更新日期:2013-05-01 00:00:00
abstract::The effects of perinatal problems on red cell phosphate metabolism were studied in two groups of infants (preterms B and fullterms D) during the first month of life. All infants started milk feeding from day three after birth. The results were compared to those of healthy preterms (A) and fullterms (C), respectively. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0464-5
更新日期:2008-02-01 00:00:00
abstract::As simple and nonsurgical means of differentiating biliary atresia (BA) from intrahepatic cholestasis of unknown origin (IC), liver function tests including serum lipoprotein-X (LP-X) and gamma-glutamyltranspeptidase (GGTP) were done and evaluated for their usefulness in the diagnosis of 27 cholestatic Japanese young ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441853
更新日期:1986-04-01 00:00:00
abstract::We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441586
更新日期:1980-03-01 00:00:00
abstract::In 238 boys with cryptorchidism, between the ages of 4 and 48 months, luteinizing hormone releasing hormone (LHRH) was administered as nasal spray 1.2 mg/day for 4 weeks. The nonresponders received human chorionic gonadotropin (HCG) 500 I.U. i.m. three times a week for 3 weeks. With the combined treatment 37.8% of tes...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02125433
更新日期:1993-01-01 00:00:00
abstract:UNLABELLED:Over the last few years, the importance of paediatric stroke has become more and more evident; however, there is still little known about long-term neurological and especially neuropsychological outcome of these children. By retrospective chart review, questionnaire and clinical examination with structured i...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1357-x
更新日期:2004-04-01 00:00:00
abstract:UNLABELLED:Increased plasma tumour necrosis factor alpha (TNF) concentration correlates with mortality in sepsis. We suggested that pentoxifylline (PTXF), which is known to inhibit TNF production, may improve survival and attenuate clinical symptoms of sepsis in neonates. Plasma TNF levels were evaluated in 29 newborn ...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF01955273
更新日期:1996-05-01 00:00:00
abstract::Breath tests (BT) using stable isotopically labelled substrates seem to fulfill all the demands and desires for a non-invasive investigation. There are no radiation hazards, substrates are given in tracer amounts perorally, breath and urine samples can be collected easily, and tests can be done repeatedly, thus easily...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014264
更新日期:1997-08-01 00:00:00
abstract:UNLABELLED:Intravenous immunoglobulin (IVIG) is currently the standard treatment for Kawasaki disease (KD). Although IVIG therapy is generally well tolerated, several minor adverse reactions have been reported. We report a patient with KD treated with IVIG, who developed a cutaneous reaction in the convalescent phase (...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1898-y
更新日期:2013-03-01 00:00:00
abstract:UNLABELLED:During puberty fat-free mass (FFM) and fat mass (FM) change quickly and these changes are influenced by sex and obesity. Since it is not completely known how these changes affect resting metabolic rate (RMR), the aim of the present study was to investigate the effect of body composition, age, sex and puberta...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050618
更新日期:1997-05-01 00:00:00
abstract::The aim of the study was to identify the relationship of acquired neutropenia with childhood infections and to assess its clinical course, complications, and outcome. Children admitted to two pediatric wards over a 4-year period with febrile neutropenia were prospectively investigated for underlying infections with in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1965-z
更新日期:2013-06-01 00:00:00