Syndromic Paucity of the Intrahepatic Bile Ducts

Deprettere, A; Portmann, Bernard; Mowat, Alex P.

doi:10.1097/00005176-198711000-00008

Cited by 77 publications

(30 citation statements)

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“…The clinical presentation of ALGS was assessed in 13 studies (10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22). The age at presentation ranged from less than 16 weeks to 10 years (18,22) with the majority of patients diagnosed within the first year of life (12,13,17,21,22).…”

Section: Resultsmentioning

confidence: 99%

“…The age at presentation ranged from less than 16 weeks to 10 years (18,22) with the majority of patients diagnosed within the first year of life (12,13,17,21,22). The presenting features included jaundice (11,12,18), growth retardation or failure to thrive (10)(11)(12)16,18,19,21,22), cholestatic disease (10)(11)(12)(13)(14)(17)(18)(19)21), cardiovascular complications (10)(11)(12)(13)(16)(17)(18)(19)21,22), hepatomegaly (11,18,22), splenomegaly (18,22), pruritus (10)(11)(12)(13)16,18,19,…”

Section: Resultsmentioning

confidence: 99%

“…Six publications reported pruritus to be a symptom of patients with ALGS (10)(11)(12)(13)18,21). Pruritus was reported in at least 80% of patients in 4 of these 6 publications (10,13,18,21).…”

Section: Resultsmentioning

confidence: 99%

“…The 6 publications reporting pruritus indicated that it affected the majority of patients. Four of these publications stated that pruritus manifested at some stage during the first 10 years of life (10)(11)(12)(13)18,21) and that it resolved only in a minority of patients at a median age of 12.5 years (range 4-23 years) (18). For the majority of patients, pruritus, however, persists (10,12,18,23) with varying degrees of severity depending on the therapy received and their adherence to treatment (12,18).…”

Section: Resultsmentioning

confidence: 99%

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Systematic Review

Kamath

Baker

Houwen

et al. 2018

J. pediatr. gastroenterol. nutr.

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Background and Aim:Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and potentially leading to end-stage liver disease and death. The aim of the study was to perform the first systematic review of the epidemiology, natural history, and burden of ALGS with a focus on the liver component.Methods:Electronic databases and proceedings from key congresses were searched in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2009 guidelines. This analysis included publications reporting epidemiology, natural history, economic burden or health-related quality of life (HRQoL) outcomes in patients with ALGS.Results:Of 525 screened publications, 20 met the inclusion criteria. Liver-related features included cholestasis (87%–100% of patients), jaundice (66%–85%), and cirrhosis (44%–95%). Between 15% and 47% of patients underwent liver transplantation and 4% to 14% received partial biliary diversion. Pruritus affected the majority of patients (59%–88%, of whom up to 45% had severe pruritus) and manifested during the first 10 years of life. Children with ALGS had significantly impaired HRQoL compared with healthy controls and those with other diseases. Itching was the symptom that most affected children with ALGS. No study assessed the economic burden of ALGS.Conclusions:Our findings consolidate information on the clinical course of ALGS, and highlight gaps in knowledge, most notably the absence of any research on the economic consequences of the disease. Further research is needed to establish the incidence of genetically confirmed ALGS. Disease-specific tools are also needed to improve the measurement of symptoms, such as itching, and better understand the impact of ALGS on HRQoL.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Systematic Review

Kamath

Baker

Houwen

et al. 2018

J. pediatr. gastroenterol. nutr.

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“…Complete and partial syndromes are now generally accepted as a single entity, AGS. A number of additional series of children with AGS have been published from different centres in an attempt to clarify the frequency of the diagnostic features and/or their prognostic implication (10)(11)(12)(13)20). All of these series have used the classical definition of AGS but have emphasised phenotypic variations and variable prognosis.…”

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confidence: 99%

Diagnosis of Alagille Syndrome—25 Years of Experience at King's College Hospital

Subramaniam

Knisely

Portmann

et al. 2011

J. pediatr. gastroenterol. nutr.

100

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Clinical features of AGS are not as consistently informative as suggested in the literature. Hypercholesterolaemia is nonspecific but may be a helpful pointer. Histology is not characteristic in 25%; hepatobiliary iminodiacetic acid scan and ultrasound may suggest a false diagnosis of biliary atresia in 60% and 28%, respectively, supporting the concept that infants with liver disease warrant early referral to a specialist centre. The advent of genetic diagnosis will redefine the syndrome with likely effects on the prognosis of the defined group.

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A lagille Syndrome

Kamath¹,

Krantz²

2005

Management of Genetic Syndromes

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Alagille syndrome, also known as syndromic bile duct paucity or arteriohepatic dysplasia, is a multisystem, autosomal‐dominant, developmental disorder with highly variable expression. It is characterized by abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. The kidney and central nervous system are also affected in a smaller percentage of individuals. The disease causing gene has been identified as JAG1. An even wider spectrum of clinical involvement (including intestinal abnormalities, orofacial clefts, hearing loss, and mental retardation) may be seen in those individuals with Alagille syndrome and a deletion of chromosome 20p12.

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Syndromic Paucity of the Intrahepatic Bile Ducts

Cited by 77 publications

References 0 publications

Systematic Review

Systematic Review

Diagnosis of Alagille Syndrome—25 Years of Experience at King's College Hospital

A lagille Syndrome

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