Liver disease in cystic fibrosis.

Tanner, M S; Taylor, C J

doi:10.1136/adc.72.4.281

Cited by 49 publications

(32 citation statements)

References 37 publications

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“…Using a different approach, this conclusion is concordant with that obtained by Tanner and Taylor [1995], who reported that CF patients bearing severe liver expression have a higher frequency of the HLA-DQw6 allele.…”

Section: Discussionsupporting

confidence: 93%

Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype

Castaldo

Fuccio

Salvatore³

et al. 2001

Am. J. Med. Genet.

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During a multicentric study conducted in Southern Italy, we studied five sets of cystic fibrosis siblings bearing a strongly discordant liver phenotype, three with genotype DeltaF508/R553X, one with genotype DeltaF508/unknown, and one with genotype unknown/unknown. The siblings of each set were raised in the same family environment, and there were no interpair differences in nutritional state or in therapy compliance. All siblings had pancreatic insufficiency and moderate respiratory expression. One sibling of each of the five sets was free of liver involvement, and the other had severe liver expression. Other causes of liver disease (viral, metabolic, and genetic other than cystic fibrosis) were ruled out. Therefore, environmental factors, nutritional state, and therapy compliance are not involved in the liver expression of cystic fibrosis in the five unrelated sibships. This suggests that modifier genes, inherited independently of the cystic fibrosis transmembrane regulator gene, could modulate the liver expression in cystic fibrosis patients.

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Section: Discussionsupporting

confidence: 93%

Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype

Castaldo

Fuccio

Salvatore³

et al. 2001

Am. J. Med. Genet.

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“…Neste estudo, os pacientes foram acompanhados por um único pesquisador por um período de 2 anos. Apesar de suas limitações, esses critérios permanecem, ainda, como padrão-ouro no diagnóstico da hepatopatia associada à FC 4,[13][14][15][16][17] . A histopatologia também não foi incorporada, em função da possibilidade de erro de amostragem devido ao caráter focal das lesões, não sendo justificável submeter pacientes assintomáticos aos riscos inerentes à biópsia hepática 13,18 .…”

Section: Discussionunclassified

Risk factors for cystic fibrosis related liver disease

Fagundes¹,

Roquete²,

Penna³

et al. 2005

J Pediatr (Rio J)

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Objective: To identify the risk factors for cystic fibrosis related liver disease.Methods: Ten patients out of a total of 106 patients regularly followed-up during 1999 met the clinical, biochemical and/or ultrasound criteria for liver disease (9.4%). Using information from the admissions records at the service, we collected data on demography, genotype, age and manifestations at diagnosis of cystic fibrosis, nutritional status and laboratory findings. Variables associated with liver disease were initially identified by the Kaplan-Meier method. Those factors that were significant in the univariate analysis were included in the multivariate analysis by means of a Cox regression model. Results:Under univariate analysis the following factors were associated with liver disease: male sex, age at diagnosis of cystic fibrosis, pancreatic insufficiency, z score for weight at admission, Shwachman score and biochemistry at admission. After adjustment by Cox model, two variables were independently associated with liver disease: Shwachman score (p = 0.0057) and age at diagnosis of cystic fibrosis (p = 0.014). Conclusions:The risk of developing liver disease is higher among patients diagnosed at an early age and those with worse clinical status as assessed by the Shwachman score, indicating that liver involvement might be part of a more severe form of the condition. These patients merit greater attention in terms of screening for liver disease and should be given treatment with ursodeoxycholic acid earlier in the event of abnormal findings.J Pediatr (Rio J). 2005;81(6):478-84: Cystic fibrosis, liver disease, multivariate analysis. ResumoObjetivo: Identificar os fatores de risco associados à hepatopatia da fibrose cística.Métodos: Dos 106 pacientes acompanhados regularmente no ano de 1999, 10 preencheram os critérios clínicos, bioquímicos e/ou ultrasonográficos para hepatopatia (9,4%). Foram obtidos dos pacientes, no protocolo do serviço à admissão, fatores relacionados aos dados demográficos, genótipo, idade e manifestações ao diagnóstico da fibrose cística, estado nutricional e dados laboratoriais. As variáveis associadas à hepatopatia foram inicialmente identificadas pelo método de Kaplan-Meier. Os fatores significativos na análise univariada foram incluídos na análise multivariada, utilizando o modelo de regressão de Cox.Resultados: Os fatores associados à hepatopatia na análise univariada foram: sexo masculino, idade ao diagnóstico da fibrose cística, insuficiência pancreática, escore z de peso à admissão, escore de Shwachman e bioquímica à admissão. Após o ajustamento pelo modelo de Cox, duas variáveis demonstraram estar independentemente associadas ao desenvolvimento de hepatopatia: escore de Shwachman (p = 0,0057) e idade ao diagnóstico da fibrose cística (p = 0,014).Conclusões: O risco de hepatopatia é maior entre os pacientes que apresentam diagnóstico mais precoce e entre aqueles com pior estado clínico avaliado pelo escore de Shwachman, evidenciando que a hepatopatia parece fazer parte de uma forma mais gr...

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“…Neste estudo, foram adotados os critérios clínicos e laboratoriais na definição da hepatopatia, por serem de acesso fácil à maioria dos centros brasileiros de referência para fibrocís-ticos. Apesar de suas limitações, esses critérios permanecem, ainda, como padrão-ouro no diagnóstico da hepatopatia associada à FC 3 . As alterações ultra-sonográficas não foram utilizadas na triagem da doença hepática, devido à ausência de estudos verificando a especificidade das alterações encontradas.…”

Section: Discussionunclassified

“…Até mesmo a biópsia hepática tem suas limitações em relação à sensibilidade, devido a natureza focal das lesões iniciais. Além disso, é um procedimento muito invasivo para esse tipo de paciente, de forma que o exame clínico permanece como padrão-ouro em relação aos outros critérios diagnósticos 3 .…”

Section: Introductionunclassified