Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern
: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is mainly characterized by renal involvement with progressive bilateral development of renal cysts and volumetric increase in the kidneys, causing a loss of renal function, chronic kidney disease (CKD), and kidney failure. The occurrence of mosa...
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| Veröffentlicht in: | Genes 2024-12, Vol.16 (1), p.39 |
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| creator | Marzano, Nenzi Caprara, Carlotta Reis, Thiago Montin, Diego Pomarè Pretto, Sofia Maria Rigato, Matteo Giuliani, Anna Gastaldon, Fiorella Mancini, Barbara Ronco, Claudio Zanella, Monica Zuccarello, Daniela Corradi, Valentina |
| description | : Autosomal Dominant Polycystic Kidney Disease (ADPKD) is mainly characterized by renal involvement with progressive bilateral development of renal cysts and volumetric increase in the kidneys, causing a loss of renal function, chronic kidney disease (CKD), and kidney failure. The occurrence of mosaicism may modulate the clinical course of the disease. Mosaicism is characterized by a few cell populations with different genomes. In these special cases, a genetic diagnosis could be challenging.
: Herein, we describe the case of a 47-year-old woman presenting with typical ultrasound and computed tomography features of ADPKD. She had stage 3b CKD and hypertension. There was no family history of ADPKD, prompting an investigation with a genetic test. Target next-generation sequencing (NGS) did not detect the presence of any genomic variants. Therefore, we carried out second-level genetic analysis to investigate the presence of a large rearrangement through a multiple ligation-dependent probe amplification (MLPA) analysis of PKD1 and PKD2 genes.
: MLPA showed a large deletion (portion including exons 2-34 of PKD1) present in the heterozygosis with a percentage of cells close to the resolution limits of the technique used ( |
| doi_str_mv | 10.3390/genes16010039 |
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: Herein, we describe the case of a 47-year-old woman presenting with typical ultrasound and computed tomography features of ADPKD. She had stage 3b CKD and hypertension. There was no family history of ADPKD, prompting an investigation with a genetic test. Target next-generation sequencing (NGS) did not detect the presence of any genomic variants. Therefore, we carried out second-level genetic analysis to investigate the presence of a large rearrangement through a multiple ligation-dependent probe amplification (MLPA) analysis of PKD1 and PKD2 genes.
: MLPA showed a large deletion (portion including exons 2-34 of PKD1) present in the heterozygosis with a percentage of cells close to the resolution limits of the technique used (<25-30%). We concluded that the large deletion identified was mosaicism. This variant is not reported in major ADPKD databases, but due to the type of mutation and the patient's clinical picture, it should be considered as likely pathogenic.
: A stepwise genetic approach might be useful in those cases where standard methods do not allow one to reach a definitive diagnosis.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes16010039</identifier><identifier>PMID: 39858586</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Case Report ; Clonal deletion ; Computed tomography ; Diagnosis ; Exons ; Family medical history ; Female ; Gene deletion ; Genes ; Genetic analysis ; Genetic screening ; Genetic testing ; Genetic Testing - methods ; Genomes ; Genomic analysis ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Kidney diseases ; Middle Aged ; Mosaicism ; Mutation ; Next-generation sequencing ; Polycystic kidney ; Polycystic Kidney, Autosomal Dominant - diagnosis ; Polycystic Kidney, Autosomal Dominant - genetics ; Polycystic Kidney, Autosomal Dominant - pathology ; Population genetics ; Renal failure ; Renal function ; TRPP Cation Channels - genetics</subject><ispartof>Genes, 2024-12, Vol.16 (1), p.39</ispartof><rights>2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2024 by the authors. 2024</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2179-79ddaa061204649db50b1f6e0bd26de68b981fb8bf7ed25f6210d5216d14884b3</cites><orcidid>0000-0002-7071-117X ; 0000-0002-6945-4460 ; 0000-0001-9008-9368 ; 0000-0001-5826-6715 ; 0000-0002-6697-4065 ; 0009-0002-7000-4907 ; 0009-0005-9225-4036</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764892/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764892/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39858586$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Marzano, Nenzi</creatorcontrib><creatorcontrib>Caprara, Carlotta</creatorcontrib><creatorcontrib>Reis, Thiago</creatorcontrib><creatorcontrib>Montin, Diego Pomarè</creatorcontrib><creatorcontrib>Pretto, Sofia Maria</creatorcontrib><creatorcontrib>Rigato, Matteo</creatorcontrib><creatorcontrib>Giuliani, Anna</creatorcontrib><creatorcontrib>Gastaldon, Fiorella</creatorcontrib><creatorcontrib>Mancini, Barbara</creatorcontrib><creatorcontrib>Ronco, Claudio</creatorcontrib><creatorcontrib>Zanella, Monica</creatorcontrib><creatorcontrib>Zuccarello, Daniela</creatorcontrib><creatorcontrib>Corradi, Valentina</creatorcontrib><title>Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is mainly characterized by renal involvement with progressive bilateral development of renal cysts and volumetric increase in the kidneys, causing a loss of renal function, chronic kidney disease (CKD), and kidney failure. The occurrence of mosaicism may modulate the clinical course of the disease. Mosaicism is characterized by a few cell populations with different genomes. In these special cases, a genetic diagnosis could be challenging.
: Herein, we describe the case of a 47-year-old woman presenting with typical ultrasound and computed tomography features of ADPKD. She had stage 3b CKD and hypertension. There was no family history of ADPKD, prompting an investigation with a genetic test. Target next-generation sequencing (NGS) did not detect the presence of any genomic variants. Therefore, we carried out second-level genetic analysis to investigate the presence of a large rearrangement through a multiple ligation-dependent probe amplification (MLPA) analysis of PKD1 and PKD2 genes.
: MLPA showed a large deletion (portion including exons 2-34 of PKD1) present in the heterozygosis with a percentage of cells close to the resolution limits of the technique used (<25-30%). We concluded that the large deletion identified was mosaicism. This variant is not reported in major ADPKD databases, but due to the type of mutation and the patient's clinical picture, it should be considered as likely pathogenic.
: A stepwise genetic approach might be useful in those cases where standard methods do not allow one to reach a definitive diagnosis.</description><subject>Case Report</subject><subject>Clonal deletion</subject><subject>Computed tomography</subject><subject>Diagnosis</subject><subject>Exons</subject><subject>Family medical history</subject><subject>Female</subject><subject>Gene deletion</subject><subject>Genes</subject><subject>Genetic analysis</subject><subject>Genetic screening</subject><subject>Genetic testing</subject><subject>Genetic Testing - methods</subject><subject>Genomes</subject><subject>Genomic analysis</subject><subject>Genomics</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Kidney diseases</subject><subject>Middle Aged</subject><subject>Mosaicism</subject><subject>Mutation</subject><subject>Next-generation sequencing</subject><subject>Polycystic kidney</subject><subject>Polycystic Kidney, Autosomal Dominant - diagnosis</subject><subject>Polycystic Kidney, Autosomal Dominant - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Marzano, Nenzi</au><au>Caprara, Carlotta</au><au>Reis, Thiago</au><au>Montin, Diego Pomarè</au><au>Pretto, Sofia Maria</au><au>Rigato, Matteo</au><au>Giuliani, Anna</au><au>Gastaldon, Fiorella</au><au>Mancini, Barbara</au><au>Ronco, Claudio</au><au>Zanella, Monica</au><au>Zuccarello, Daniela</au><au>Corradi, Valentina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2024-12-30</date><risdate>2024</risdate><volume>16</volume><issue>1</issue><spage>39</spage><pages>39-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is mainly characterized by renal involvement with progressive bilateral development of renal cysts and volumetric increase in the kidneys, causing a loss of renal function, chronic kidney disease (CKD), and kidney failure. The occurrence of mosaicism may modulate the clinical course of the disease. Mosaicism is characterized by a few cell populations with different genomes. In these special cases, a genetic diagnosis could be challenging.
: Herein, we describe the case of a 47-year-old woman presenting with typical ultrasound and computed tomography features of ADPKD. She had stage 3b CKD and hypertension. There was no family history of ADPKD, prompting an investigation with a genetic test. Target next-generation sequencing (NGS) did not detect the presence of any genomic variants. Therefore, we carried out second-level genetic analysis to investigate the presence of a large rearrangement through a multiple ligation-dependent probe amplification (MLPA) analysis of PKD1 and PKD2 genes.
: MLPA showed a large deletion (portion including exons 2-34 of PKD1) present in the heterozygosis with a percentage of cells close to the resolution limits of the technique used (<25-30%). We concluded that the large deletion identified was mosaicism. This variant is not reported in major ADPKD databases, but due to the type of mutation and the patient's clinical picture, it should be considered as likely pathogenic.
: A stepwise genetic approach might be useful in those cases where standard methods do not allow one to reach a definitive diagnosis.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>39858586</pmid><doi>10.3390/genes16010039</doi><orcidid>https://orcid.org/0000-0002-7071-117X</orcidid><orcidid>https://orcid.org/0000-0002-6945-4460</orcidid><orcidid>https://orcid.org/0000-0001-9008-9368</orcidid><orcidid>https://orcid.org/0000-0001-5826-6715</orcidid><orcidid>https://orcid.org/0000-0002-6697-4065</orcidid><orcidid>https://orcid.org/0009-0002-7000-4907</orcidid><orcidid>https://orcid.org/0009-0005-9225-4036</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MDPI - Multidisciplinary Digital Publishing Institute; MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; PubMed Central Open Access |
| subjects | Case Report Clonal deletion Computed tomography Diagnosis Exons Family medical history Female Gene deletion Genes Genetic analysis Genetic screening Genetic testing Genetic Testing - methods Genomes Genomic analysis Genomics High-Throughput Nucleotide Sequencing Humans Kidney diseases Middle Aged Mosaicism Mutation Next-generation sequencing Polycystic kidney Polycystic Kidney, Autosomal Dominant - diagnosis Polycystic Kidney, Autosomal Dominant - genetics Polycystic Kidney, Autosomal Dominant - pathology Population genetics Renal failure Renal function TRPP Cation Channels - genetics |
| title | Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern |
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