Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders
Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration....
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Pagin, A. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2020transfer abstract |
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| Schlagwörter: |
CFTR-related metabolic syndrome(CRMS)/CF screen positive inconclusive diagnosis (CFSPID) Cystic fibrosis transmembrane conductance regulator (CFTR) |
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| Umfang: |
5 |
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| Übergeordnetes Werk: |
Enthalten in: Archives de pédiatrie - Cui, Yuqiong ELSEVIER, 2021, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:27 ; year:2020 ; pages:25-29 ; extent:5 |
| Links: |
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| DOI / URN: |
10.1016/S0929-693X(20)30047-6 |
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ELV049669370 |
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| 520 | |a Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. | ||
| 520 | |a Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. | ||
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10.1016/S0929-693X(20)30047-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000952.pica (DE-627)ELV049669370 (ELSEVIER)S0929-693X(20)30047-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Pagin, A. verfasserin aut Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders 2020transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. CFTR-related metabolic syndrome(CRMS)/CF screen positive inconclusive diagnosis (CFSPID) Elsevier Cystic fibrosis transmembrane conductance regulator (CFTR) Elsevier CFTR-related disorders (CFTR-RD) Elsevier Cystic fibrosis (CF) Elsevier Sermet-Gaudelus, I. oth Burgel, P.-R. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 pages:25-29 extent:5 https://doi.org/10.1016/S0929-693X(20)30047-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 25-29 5 27.2020, eS25-, (5 S.) |
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10.1016/S0929-693X(20)30047-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000952.pica (DE-627)ELV049669370 (ELSEVIER)S0929-693X(20)30047-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Pagin, A. verfasserin aut Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders 2020transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. CFTR-related metabolic syndrome(CRMS)/CF screen positive inconclusive diagnosis (CFSPID) Elsevier Cystic fibrosis transmembrane conductance regulator (CFTR) Elsevier CFTR-related disorders (CFTR-RD) Elsevier Cystic fibrosis (CF) Elsevier Sermet-Gaudelus, I. oth Burgel, P.-R. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 pages:25-29 extent:5 https://doi.org/10.1016/S0929-693X(20)30047-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 25-29 5 27.2020, eS25-, (5 S.) |
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10.1016/S0929-693X(20)30047-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000952.pica (DE-627)ELV049669370 (ELSEVIER)S0929-693X(20)30047-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Pagin, A. verfasserin aut Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders 2020transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. CFTR-related metabolic syndrome(CRMS)/CF screen positive inconclusive diagnosis (CFSPID) Elsevier Cystic fibrosis transmembrane conductance regulator (CFTR) Elsevier CFTR-related disorders (CFTR-RD) Elsevier Cystic fibrosis (CF) Elsevier Sermet-Gaudelus, I. oth Burgel, P.-R. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 pages:25-29 extent:5 https://doi.org/10.1016/S0929-693X(20)30047-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 25-29 5 27.2020, eS25-, (5 S.) |
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10.1016/S0929-693X(20)30047-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000952.pica (DE-627)ELV049669370 (ELSEVIER)S0929-693X(20)30047-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Pagin, A. verfasserin aut Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders 2020transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. CFTR-related metabolic syndrome(CRMS)/CF screen positive inconclusive diagnosis (CFSPID) Elsevier Cystic fibrosis transmembrane conductance regulator (CFTR) Elsevier CFTR-related disorders (CFTR-RD) Elsevier Cystic fibrosis (CF) Elsevier Sermet-Gaudelus, I. oth Burgel, P.-R. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 pages:25-29 extent:5 https://doi.org/10.1016/S0929-693X(20)30047-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 25-29 5 27.2020, eS25-, (5 S.) |
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10.1016/S0929-693X(20)30047-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000952.pica (DE-627)ELV049669370 (ELSEVIER)S0929-693X(20)30047-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Pagin, A. verfasserin aut Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders 2020transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. CFTR-related metabolic syndrome(CRMS)/CF screen positive inconclusive diagnosis (CFSPID) Elsevier Cystic fibrosis transmembrane conductance regulator (CFTR) Elsevier CFTR-related disorders (CFTR-RD) Elsevier Cystic fibrosis (CF) Elsevier Sermet-Gaudelus, I. oth Burgel, P.-R. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 pages:25-29 extent:5 https://doi.org/10.1016/S0929-693X(20)30047-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 25-29 5 27.2020, eS25-, (5 S.) |
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Pagin, A. |
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genetic diagnosis in practice: from cystic fibrosis to cftr-related disorders |
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Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders |
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Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. |
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Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. |
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Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. |
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