Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases

Collardeau-Frachon, Sophie; Bouvier, Raymonde; Gall, Catherine Le; Rivet, Christine; Cabet, F.; Bellon, G.; Lachaux, Alain; Scoazec, Jean‐Yves

doi:10.1007/s00428-007-0434-3

Cited by 9 publications

(4 citation statements)

References 52 publications

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“…A very recent study in human failing heart found that the expression of the mature CFTR protein decreased significantly to 52% of CFTR levels in non-failing controls (141). Interestingly, it was reported recently that a pediatric patient who died of heart failure with significant myocardial lesion was retrospectively diagnosed as cystic fibrosis only after the histological examination of a liver biopsy (32). The exact functional and clinical significance of the changes in CFTR expression during hypertrophy and heart failure is currently not clear and merits further study.…”

Section: Phenotypic Study Of Cardiac Channelsmentioning

confidence: 99%

Phenomics of Cardiac Chloride Channels

Duan

2013

Comprehensive Physiology

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Forward genetic studies have identified several chloride (Cl−) channel genes, including CFTR, ClC-2, ClC-3, CLCA, Bestrophin, and Ano1, in the heart. Recent reverse genetic studies using gene targeting and transgenic techniques to delineate the functional role of cardiac Cl− channels have shown that Cl− channels may contribute to cardiac arrhythmogenesis, myocardial hypertrophy and heart failure, and cardioprotection against ischemia reperfusion. The study of physiological or pathophysiological phenotypes of cardiac Cl− channels, however, is complicated by the compensatory changes in the animals in response to the targeted genetic manipulation. Alternatively, tissue-specific conditional or inducible knockout or knockin animal models may be more valuable in the phenotypic studies of specific Cl− channels by limiting the effect of compensation on the phenotype. The integrated function of Cl− channels may involve multiprotein complexes of the Cl− channel subproteome. Similar phenotypes can be attained from alternative protein pathways within cellular networks, which are influenced by genetic and environmental factors. The phenomics approach, which characterizes phenotypes as a whole phenome and systematically studies the molecular changes that give rise to particular phenotypes achieved by modifying the genotype under the scope of genome/proteome/phenome, may provide more complete understanding of the integrated function of each cardiac Cl− channel in the context of health and disease.

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Section: Phenotypic Study Of Cardiac Channelsmentioning

confidence: 99%

Phenomics of Cardiac Chloride Channels

Duan

2013

Comprehensive Physiology

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“…On the other hand, cases have been reported of paediatric patients in whom liver disease was the only manifestation of cystic fibrosis, and the diagnosis was made only following histological examination of a liver specimen obtained by biopsy or at autopsy [38 ]. Liver biopsy may provide important information on the type of the predominant lesion (steatosis or focal biliary cirrhosis), extent of portal fibrosis, rate of progression of liver disease and response to treatment.…”

Section: Diagnosismentioning

confidence: 99%

Liver disease in cystic fibrosis

Colombo¹

2007

Current Opinion in Pulmonary Medicine

156

105

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Liver disease is a relatively frequent and early complication of cystic fibrosis. The pathogenesis is apparently multifactorial, with contributions from environmental and genetic determinants. Its impact on quality of life and survival will increase in future years, and its early detection and treatment will become increasingly important issues. Ursodeoxycholic acid is the only treatment currently available, but novel therapeutic options are being evaluated.

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“…A very recent study in human failing heart found that the expression of the mature CFTR protein decreased significantly to 52% of CFTR levels in non‐failing controls (Solbach et al 2008). Interestingly, it was reported recently that a paediatric patient who died of heart failure with significant myocardial lesion was retrospectively diagnosed as cystic fibrosis only after the histological examination of a liver biopsy (Collardeau‐Frachon et al 2007). The exact functional and clinical significance of the changes in CFTR expression during hypertrophy and heart failure is currently not clear and merits further study.…”

mentioning

confidence: 99%

Phenomics of cardiac chloride channels: the systematic study of chloride channel function in the heart

Duan

2009

The Journal of Physiology

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Recent studies have identified several chloride (Cl − ) channel genes in the heart, including CFTR, ClC-2, ClC-3, CLCA, Bestrophin, and TMEM16A. Gene targeting and transgenic techniques have been used to delineate the functional role of cardiac Cl − channels in the context of health and disease. It has been shown that Cl − channels may contribute to cardiac arrhythmogenesis, myocardial hypertrophy and heart failure, and cardioprotection against ischaemia-reperfusion. The study of physiological or pathophysiological phenotypes of cardiac Cl − channels, however, may be complicated by the compensatory changes in the animals in response to the targeted genetic manipulation. Alternatively, tissue-specific conditional or inducible knockout or knockin animal models may be more valuable in the phenotypic studies of specific Cl − channels by limiting the effect of compensation on the phenotype. The integrated function of Cl − channels may involve multi-protein complexes of the Cl − channel subproteome and similar phenotypes can be attained from alternative protein pathways within cellular networks, which are influenced by genetic and environmental factors. Therefore, the phenomics approach, which characterizes phenotypes as a whole phenome and systematically studies the molecular changes that give rise to particular phenotypes achieved by modifying the genotype (such as gene knockouts or knockins) under the scope of genome/proteome/phenome, may provide a more complete understanding of the integrated function of each cardiac Cl − channel in the context of health and disease.

show abstract

Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases

Cited by 9 publications

References 52 publications

Phenomics of Cardiac Chloride Channels

Phenomics of Cardiac Chloride Channels

Liver disease in cystic fibrosis

Phenomics of cardiac chloride channels: the systematic study of chloride channel function in the heart

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