Abstract:
BACKGROUND:Mauriac syndrome is characterised by growth failure, cushingoid appearance and hepatomegaly which occurs in patients with insulin dependent diabetes and was first described shortly after the introduction of insulin as a treatment for the condition. OBJECTIVE:To describe the clinical features, histological findings and outcome of young people with glycogenic hepatopathy, the hepatic manifestation of Mauriac syndrome (MS). DESIGN:Retrospective cohort study. PATIENTS:Young people with glycogenic hepatopathy. SETTING:Tertiary paediatric hepatology unit. RESULTS:Thirty-one young people (16 M), median age of 15.1 years (IQR 14-16.2) presented within the study period. Median age of diagnosis of diabetes was 10 years (IQR 8-11). Median insulin requirement was 1.33 units/kg/day; median HbA1c was 96.7 mmol/mol (IQR 84.7-112.0). Growth was impaired: median height z-score was -1.01 (-1.73 to 0.4) and median body mass index (BMI) z-score was 0.28 (-0.12 to 0.67). Hepatomegaly was universal with splenomegaly in 16%. Transaminases were abnormal with a median aspartate aminotransferase (AST) of 76 IU/L and gamma glutamyltransferase of 71 IU/L. Liver biopsy was undertaken in 19 (61%). All showed enlarged hepatocytes with clear cytoplasm with glycogenated nuclei in 17. Steatosis was present in the majority. Inflammation was present in 8 (42%). Fibrosis was seen in 14 (73%) and was generally mild though 2 had bridging fibrosis. Megamitochondria were described in 7. Presence of megamitochondria correlated with AST elevation (p=0.026) and fibrosis on biopsy (p=0.007). At follow-up 17 children had normal or improved transaminases, in 13 there was no change. Transaminases followed the trend of the child's HbA1c. CONCLUSIONS:Despite modern insulin regimens and monitoring in children with type 1 diabetes, MS still exists. Significant steatosis, inflammation and fibrosis were all seen in liver biopsies.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Fitzpatrick E,Cotoi C,Quaglia A,Sakellariou S,Ford-Adams ME,Hadzic Ndoi
10.1136/archdischild-2013-304426subject
Has Abstractpub_date
2014-04-01 00:00:00pages
354-7issue
4eissn
0003-9888issn
1468-2044pii
archdischild-2013-304426journal_volume
99pub_type
杂志文章abstract::Rubella vaccination was offered to a cohort of schoolgirls 14 years and over whose immune state was unknown. This increased the percentage vaccinated or known to be immune from 86% to 90%. It is recommended that rubella vaccination should be offered to girls until they leave school at 16 years of age. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.8.983
更新日期:1988-08-01 00:00:00
abstract:OBJECTIVE:To ascertain mortality from 1 to 18 years, and predictors of mortality. DESIGN:Long-term follow-up of population cohort born 1989-1992. SETTING:Births in South East Thames Region. PATIENTS:346 children with bilateral cerebral palsy (CP). INTERVENTIONS:Not applicable. MAIN OUTCOME MEASURES:Mortality; pred...
journal_title:Archives of disease in childhood
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doi:10.1136/adc.2009.172841
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.70.5.439
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations. DESIGN:Retrospective case note review. SETTING:Community, neurodisability and neurology department at a UK tertiary centre. PARTICIPANTS:Child...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2017-312843
更新日期:2017-11-01 00:00:00
abstract::We report a child with Down's syndrome in whom metrorrhagia and precocious puberty revealed primary autoimmune hypothyroidism. The patient had a decreased growth velocity, exaggerated weight gain, bone age delay, and bilaterally enlarged multicystic ovaries. Delays in the diagnosis and treatment of hypothyroidism can ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.88.4.330
更新日期:2003-04-01 00:00:00
abstract::The auditory function of 370 infants, drawn from both low and high risk groups, was tested before postnatal discharge using three tests: standard auditory brain stem responses (ABR), automated analysis of ABR, and automated analysis of evoked otoacoustic emissions (OAE). All infants failing any neonatal test had furth...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.10_spec_no.1124
更新日期:1991-10-01 00:00:00
abstract::We performed metabolic balance studies in 77 preterm infants fed on human milk or adapted formulas, to determine the renal solute load and compared it with the potential renal solute load estimated by the composition of the diet or the urine according to Ziegler's, Bergman's, and Shaw's calculations. The renal solute ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.4_spec_no.357
更新日期:1990-04-01 00:00:00
abstract:AIM:To describe the nature and causes of reported patient safety incidents relating to care in the community for children dependent on long-term ventilation with the further aim of improving safety. METHODS:We undertook an analysis of patient safety incident data relating to long-term ventilation in the community usin...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-317965
更新日期:2020-05-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2009.179069
更新日期:2010-10-01 00:00:00
abstract:OBJECTIVE:To characterise fetal brain growth in children with specific language impairment (SLI). DESIGN:A nested case-control study. SETTING:Perth, Western Australia. PARTICIPANTS:Thirty children meeting criteria for SLI at age 10 years were individually matched with a typically developing comparison child on sex, ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.180331
更新日期:2012-01-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2003.030411
更新日期:2004-07-01 00:00:00
abstract::A special conditions register (SCR) linked to the child health system's register of all children has been in use in West Sussex since 1977. This paper describes the aims, organisation, and use of the SCR and gives examples of the aggregated data that may be obtained. Of the 155,000 children aged 0-17 resident in West ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.8.927
更新日期:1991-08-01 00:00:00
abstract:OBJECTIVES:Despite improved nutrition and intensive treatment, subjects with cystic fibrosis have difficulty in maintaining anabolism during intercurrent infections, which can result in reduced body mass index and impaired skeletal growth. Insulin-like growth factor-I (IGF-I) and its binding protein IGFBP3 are sensitiv...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.76.4.304
更新日期:1997-04-01 00:00:00
abstract::A 9 month old boy presented with acute respiratory distress and was found to have a left pleural effusion. The chylous nature of the effusion, multiple bony lytic lesions, and splenic cysts lead to the diagnosis of congenital lymphangiomatosis with chylothorax. Surgical intervention including pleurectomy was required ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.7.1058
更新日期:1989-07-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.1.62
更新日期:1979-01-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.8.638
更新日期:1977-08-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2010.205211
更新日期:2012-04-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,meta分析,评审
doi:10.1136/adc.88.9.748
更新日期:2003-09-01 00:00:00
abstract:OBJECTIVES:To determine the incidence of insulin dependent diabetes mellitus (IDDM) among children aged up to 16 years residing in the city of Karachi, Pakistan, during the five years from 1989 to 1993. DESIGN:Retrospective study of incidence using hospital and clinic records. SETTING:The city of Karachi, Pakistan. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.76.2.121
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.7_spec_no.897
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journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1984-11-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2002.006676
更新日期:2004-03-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.88.2.147
更新日期:2003-02-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2013-303948
更新日期:2014-03-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.88.1.71
更新日期:2003-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:1996-01-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2002.016543
更新日期:2004-09-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.12.1324
更新日期:1990-12-01 00:00:00
abstract::Nine cases of neonatal Haemophilus influenzae septicaemia were recorded in Finland during 1985-9; incidence was 2.8/100,000 live births, and 1.6% of all cases of neonatal septicaemia. The onset of the disease was early in all cases, ranging from 0-6 hours after delivery. Seven of the infants were preterm and three die...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.4_spec_no.437
更新日期:1991-04-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2003.032516
更新日期:2004-10-01 00:00:00