Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants
Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset pol...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Das, Ananya [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2023 |
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| Schlagwörter: |
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© The Author(s) 2022 |
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| Übergeordnetes Werk: |
volume:2 ; year:2023 ; number:1 ; day:02 ; month:01 |
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| DOI / URN: |
10.1007/s44162-022-00002-7 |
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| 520 | |a Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants. | ||
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10.1007/s44162-022-00002-7 doi (DE-627)SPR048955035 (SPR)s44162-022-00002-7-e DE-627 ger DE-627 rakwb eng Das, Ananya verfasserin aut Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants. Autosomal recessive polycystic kidney disease (dpeaa)DE-He213 Caroli’s syndrome (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 pathogenic variants (dpeaa)DE-He213 Mead, Paul aut Sayer, John A. (orcid)0000-0003-1881-3782 aut Enthalten in Journal of Rare Diseases Springer Berlin Heidelberg 2(2023), 1 vom: 02. Jan. (SID)44162 volume:2 year:2023 number:1 day:02 month:01 https://dx.doi.org/10.1007/s44162-022-00002-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 2 2023 1 02 01 |
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10.1007/s44162-022-00002-7 doi (DE-627)SPR048955035 (SPR)s44162-022-00002-7-e DE-627 ger DE-627 rakwb eng Das, Ananya verfasserin aut Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants. Autosomal recessive polycystic kidney disease (dpeaa)DE-He213 Caroli’s syndrome (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 pathogenic variants (dpeaa)DE-He213 Mead, Paul aut Sayer, John A. (orcid)0000-0003-1881-3782 aut Enthalten in Journal of Rare Diseases Springer Berlin Heidelberg 2(2023), 1 vom: 02. Jan. (SID)44162 volume:2 year:2023 number:1 day:02 month:01 https://dx.doi.org/10.1007/s44162-022-00002-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 2 2023 1 02 01 |
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10.1007/s44162-022-00002-7 doi (DE-627)SPR048955035 (SPR)s44162-022-00002-7-e DE-627 ger DE-627 rakwb eng Das, Ananya verfasserin aut Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants. Autosomal recessive polycystic kidney disease (dpeaa)DE-He213 Caroli’s syndrome (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 pathogenic variants (dpeaa)DE-He213 Mead, Paul aut Sayer, John A. (orcid)0000-0003-1881-3782 aut Enthalten in Journal of Rare Diseases Springer Berlin Heidelberg 2(2023), 1 vom: 02. Jan. (SID)44162 volume:2 year:2023 number:1 day:02 month:01 https://dx.doi.org/10.1007/s44162-022-00002-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 2 2023 1 02 01 |
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10.1007/s44162-022-00002-7 doi (DE-627)SPR048955035 (SPR)s44162-022-00002-7-e DE-627 ger DE-627 rakwb eng Das, Ananya verfasserin aut Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants. Autosomal recessive polycystic kidney disease (dpeaa)DE-He213 Caroli’s syndrome (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 pathogenic variants (dpeaa)DE-He213 Mead, Paul aut Sayer, John A. (orcid)0000-0003-1881-3782 aut Enthalten in Journal of Rare Diseases Springer Berlin Heidelberg 2(2023), 1 vom: 02. Jan. (SID)44162 volume:2 year:2023 number:1 day:02 month:01 https://dx.doi.org/10.1007/s44162-022-00002-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 2 2023 1 02 01 |
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Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants Autosomal recessive polycystic kidney disease (dpeaa)DE-He213 Caroli’s syndrome (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 pathogenic variants (dpeaa)DE-He213 |
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adult presentations of variable kidney and liver phenotypes secondary to biallelic pkhd1 pathogenic variants |
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Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants |
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Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants. © The Author(s) 2022 |
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Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants. © The Author(s) 2022 |
| abstract_unstemmed |
Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants. © The Author(s) 2022 |
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10.1007/s44162-022-00002-7 |
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2024-07-03T22:27:27.062Z |
| _version_ |
1803598584418926592 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR048955035</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519072430.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230102s2023 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s44162-022-00002-7</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR048955035</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s44162-022-00002-7-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Das, Ananya</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2023</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s) 2022</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Autosomal recessive polycystic kidney disease</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Caroli’s syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Medullary sponge kidney</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">pathogenic variants</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Mead, Paul</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sayer, John A.</subfield><subfield code="0">(orcid)0000-0003-1881-3782</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Journal of Rare Diseases</subfield><subfield code="d">Springer Berlin Heidelberg</subfield><subfield code="g">2(2023), 1 vom: 02. Jan.</subfield><subfield code="w">(SID)44162</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:2</subfield><subfield code="g">year:2023</subfield><subfield code="g">number:1</subfield><subfield code="g">day:02</subfield><subfield code="g">month:01</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://dx.doi.org/10.1007/s44162-022-00002-7</subfield><subfield code="z">kostenfrei</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_SPRINGER</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">2</subfield><subfield code="j">2023</subfield><subfield code="e">1</subfield><subfield code="b">02</subfield><subfield code="c">01</subfield></datafield></record></collection>
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7.400667 |