Abstract:
:We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymatically characterized in our laboratory. We also include in this report four personal patients (two with OTC and two with citrullinaemia) who were liver transplanted, and one OTC patient from the National French survey. Although this retrospective series is not really representative of the modern treatment combining low protein diet and arginine, sodium benzoate and sodium phenylbutyrate, it is obvious that the long-term outcome of all urea cycle disorders remains very guarded. We highlight the severity of the neonatal forms of such disorders, and mostly for OTC-deficient males. According to this evidence, our policy is not to treat such severely affected patients in the neonatal period who die anyway spontaneously within 2 to 3 days. At the present time, we only have three patients with neonatal citrullinaemia, aged 1, 6 and 10 years respectively, who are still doing well. One of them has been successfully liver transplanted at 5 years. Another transplanted patient died in the post-surgical phase. We emphasize the unexpected severity of argininosuccinic aciduria in which there is no one patient doing well. This is a rather surprising finding as this disorder is easy to manage and rarely presents with recurrent attacks of hyperammonaemia when it is treated by arginine supplementation. This consideration would suggest to extend the indication of orthotopic liver transplantation in this disorder. Finally, the most difficult indication is in the late onset symptomatic female OTC group. In this last group, despite a significant residual activity due to heterozygote status, even with a variable lyonisation, only seven girls are still mentally and neurologically normal. Interestingly, three of these seven were liver-transplanted before the constitution of irreversible neurological damage. These three girls and their family declare their well-being, their feeling to be cured and enjoy their normal life.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Saudubray JM,Touati G,Delonlay P,Jouvet P,Narcy C,Laurent J,Rabier D,Kamoun P,Jan D,Revillon Ydoi
10.1007/pl00014323keywords:
subject
Has Abstractpub_date
1999-12-01 00:00:00pages
S55-9eissn
0340-6199issn
1432-1076pii
9158S055.431journal_volume
158 Suppl 2pub_type
杂志文章abstract::Malignant thymoma was found in an 8-year-old Japanese boy with growth hormone (GH) deficiency who had received GH therapy for 3 years and 5 months. There may be a possible relationship between the occurrence of malignant thymoma and GH therapy. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02073374
更新日期:1993-10-01 00:00:00
abstract::This paper describes the design of a study to follow the development of boys and girls in secondary schools from the age of 12 through 17 on an annual basis, in order to acquire more information concerning the growth and development of teenagers. In this study, both physical and psychological characteristics are measu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442158
更新日期:1978-10-12 00:00:00
abstract:BACKGROUND:Human immunodeficiency virus type 1 (HIV-1) infected children treated with highly active antiretroviral therapy (HAART) may develop a significant reduction of plasma viremia associated with an increase in CD4+ T-cell counts. Functional capacity of this reconstituted immune system in response to recall antige...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0184-2
更新日期:2007-01-01 00:00:00
abstract::When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed b...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00661898
更新日期:1983-03-01 00:00:00
abstract::We evaluated chronic kidney disease (CKD) (proteinuria or estimated glomerular filtration rate < 60 mL/min/1.73 m2) or hypertension prevalence in 110 children with juvenile idiopathic arthritis (JIA). CKD and hypertension were clustered under the umbrella term of "renal injury". Median age at the last visit was 14 yea...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03792-4
更新日期:2021-02-01 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::The description and analysis of the utilisation of medical services is of particular importance reflecting childhood morbidity. Therefore, our aim was to describe episode- and person-based rates of hospital admission in Germany, by focusing on the three most important clinically relevant categories, accident injuries,...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-008-0859-y
更新日期:2009-08-01 00:00:00
abstract::The four-principles approach of Beauchamp and Childress has had a huge influence in many areas of medicine, including Pediatrics. There is a risk that such universalist principles fail to take into account cultural differences. This is an important point but there is a need to see the more nuanced aspects of the appro...
journal_title:European journal of pediatrics
pub_type: 评论,社论
doi:10.1007/s00431-009-0971-7
更新日期:2009-11-01 00:00:00
abstract::Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02072628
更新日期:1991-07-01 00:00:00
abstract:UNLABELLED:Breast milk samples from three groups of Brazilian women were evaluated for their inhibitory effect on enteropathogenic Escherichia coli (EPEC) adhesion to HEp-2 cells: G1, mothers delivering preterm babies of appropriate birth weight (n = 12); G2, mothers delivering term babies of low birth weight (n = 11);...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050646
更新日期:1997-06-01 00:00:00
abstract:UNLABELLED:Two patients are described with acute collapse caused by pericardial effusion following central venous catheterisation. Echocardiography during resuscitation allowed prompt identification and management. CONCLUSION:Pericardial effusion should be considered in any baby experiencing acute deterioration with a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310100828
更新日期:2001-12-01 00:00:00
abstract::The United Nations Convention of Children's Rights (UNCRC) introduced in 1989 has generated a global movement for the protection of children's rights and has brought about a paradigm change in how children are perceived. Pediatric healthcare professionals are interacting with children and therefore with children's rig...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-010-1205-8
更新日期:2011-01-01 00:00:00
abstract::Six patients are described with a combination of early onset of neurological symptoms, gross cerebral changes and elevated concentrations of pyruvate and lactate in cerebrospinal fluid. Although at least five of the six patients appear to have a generalised defect in pyruvate metabolism, reflected in deficient pyruvat...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442603
更新日期:1988-01-01 00:00:00
abstract::Seven male Japanese children with chronic granulomatous disease were given sulfamethoxazole-trimethoprim (SMX-TMP) for recurrent pyogenic infections, most of which had proved difficult to control with other antibiotics. With continous treatment the children remained free of infections severe enough to necessitate hosp...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00493540
更新日期:1978-04-20 00:00:00
abstract::Two siblings were found to be affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, one of which died suddenly and unexpectedly on the 3rd day of life suffering from extreme hypoketotic hypoglycaemia. The younger sibling started to have feeding problems, lowered consciousness, and liver dysfunction at the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01963564
更新日期:1991-01-01 00:00:00
abstract:UNLABELLED:In 135 women and 85 men who initially presented for tall stature, the outcome in treated (56 women and 33 men; cases) and untreated (controls) was investigated. At the time of height prediction, cases were significantly taller (P < or = 0.03) than the controls, they had higher target heights (P < 0.001) and ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050740
更新日期:1997-12-01 00:00:00
abstract::A 14-year-old boy had a 6 month history of recurrent macroscopic haematuria. A papillary non-invasive transitional cell carcinoma of the bladder was found at cystoscopy and treated by transurethral resection. In comparison to adults, bladder carcinoma is a rare cause of haematuria in children who appear to have a favo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442709
更新日期:1988-04-01 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::Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonogra...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441403
更新日期:1988-12-01 00:00:00
abstract::Acid-base disturbances have been usually evaluated with the traditional Henderson-Hasselbach method and Stewart's physiochemical approach by quantifying anions of tissue acids (TA). It is hypothesized that an increase in tissue acids during metabolic acidosis would cause a compensatory decrease in the plasma chloride ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1666-4
更新日期:2012-06-01 00:00:00
abstract::Chronic lung disease of prematurity (CLD) remains a common cause of morbidity and mortality in preterm infants. Oxygen toxicity remains a major risk factor for the development of CLD and as a consequence the antioxidant status of CLD babies is a major focus of interest. In the present study, we determined whether asco...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000709
更新日期:2001-03-01 00:00:00
abstract:UNLABELLED:The objective of this study was to evaluate health-related quality of life (HRQoL) and behavioral functioning in pediatric patients with hereditary spherocytosis (HS). A cross-sectional study was conducted in 132 Dutch children and adolescents with HS and aged 8-18 years of whom 48 underwent splenectomy prio...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2299-1
更新日期:2014-09-01 00:00:00
abstract::Relevant findings are reported in an 8-year-old boy with skin infection due to Staphylococcus aureus producing toxic shock syndrome toxin-1 without shock but with an increase in antibody titre against the toxin. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444123
更新日期:1989-01-01 00:00:00
abstract::Diagnosis of immunoglobulin deficiency with increased IgM (hyper-IgM syndrome) was made in three siblings (two girls and a boy) on the basis of history, physical findings, and laboratory data. The prominent clinical findings were recurrent viral and bacterial infections of the respiratory tract. The most severe infect...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441406
更新日期:1988-12-01 00:00:00
abstract::Neonatal diabetes, which may be transient or permanent, is rare. Most patients are full-term but small- for-date infants. Typical symptoms of diabetes mellitus occur within the first 4 weeks of life, requiring insulin therapy and very strict blood glucose monitoring. Subsequent growth and psychomotor development are u...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF01958635
更新日期:1995-12-01 00:00:00
abstract:UNLABELLED:It has been suggested that chronic treatment with L-thyroxine (L-T4) could be implicated in reducing bone mineral density (BMD). The purpose of this longitudinal study was to determine whether appendicular and axial BMD is decreased by L-T4 treatment in adolescent girls. Thirteen adolescent girls with subcli...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01955180
更新日期:1996-06-01 00:00:00
abstract::The performance of two triggering systems was compared during patient triggered ventilation (PTV) of infants ventilator-dependent beyond 10 days of age. Ten infants were studied who had a median gestational age of 26.5 weeks and a postnatal age of 15.5 days. PTV was administered via the SLE ventilator and the two trig...
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/BF01957937
更新日期:1992-11-01 00:00:00
abstract::The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome. Literature search documented at least 413 cases with 558 sibs. An aff...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00595907
更新日期:1989-02-01 00:00:00
abstract::To evaluate the feasibility and clinical usefulness of immunocytochemical detection of bone marrow metastases in neuroblastoma, we studied bone marrow samples from patients undergoing intensive therapy, followed in the majority of cases by autologous bone marrow rescue. Two monoclonal antibodies were used in an indire...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442474
更新日期:1988-08-01 00:00:00
abstract::This study is a retrospective analysis of seven patients with hypoechogenic lesions in the liver and/or spleen due to Bartonella henselae, who were followed from 1998 through to 2005 by the Department of Pediatrics, Turin University. In addition to showing constitutional symptoms, four children had skin lesions sugges...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0500-5
更新日期:2008-04-01 00:00:00