Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2
Abstract Background Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone disease in the first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. This st...
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| Veröffentlicht in: | Nephrology, dialysis, transplantation dialysis, transplantation, 2022-04, Vol.37 (5), p.869-875 |
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| creator | Singh, Prince Viehman, Jason K Mehta, Ramila A Cogal, Andrea G Hasadsri, Linda Oglesbee, Devin Olson, Julie B Seide, Barbara M Sas, David J Harris, Peter C Lieske, John C Milliner, Dawn S |
| description | Abstract
Background
Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone disease in the first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. This study characterized clinical manifestations of PH3 across the decades of life in comparison with PH1 and PH2.
Methods
Clinical information was obtained from the Rare Kidney Stone Consortium PH Registry (PH1, n = 384; PH2, n = 51; PH3, n = 62).
Results
PH3 patients presented with symptoms at a median of 2.7 years old compared with PH1 (4.9 years) and PH2 (5.7 years) (P = 0.14). Nephrocalcinosis was present at diagnosis in 4 (7%) PH3 patients, while 55 (89%) had stones. Median urine oxalate excretion was lowest in PH3 patients compared with PH1 and PH2 (1.1 versus 1.6 and 1.5 mmol/day/1.73 m2, respectively, P |
| doi_str_mv | 10.1093/ndt/gfab027 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9214566</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><oup_id>10.1093/ndt/gfab027</oup_id><sourcerecordid>2487150454</sourcerecordid><originalsourceid>FETCH-LOGICAL-c412t-caaee7c84960652d6da6f32f050fdc2430f3857e1efd35e1fbd34d0be39d83cd3</originalsourceid><addsrcrecordid>eNp9kUtLAzEUhYMoWqsr95KVCDI2r5npbAQpvkBwoxs34TaPNjKdjMmMWn-90VbRjatLOB_nntyD0AElp5RUfNTobjSzMCWs3EADKgqSMT7ON9EgqTQjOal20G6MT4SQipXlNtrhPBe8LMgAPU5q1zgFNVZzCKA6E9w7dM432FvcBreAsMTzZWuCf4O6Dw5wl16YY9dg5RctBBcT_eq6-ZcSMcXQaMz20JaFOpr99Ryih8uL-8l1dnt3dTM5v82UoKzLFIAxpRqLqiBFznShobCc2ZTbasUEJzb9pjTUWM1zQ-1Uc6HJ1PBKj7nSfIjOVr5tP10YrUzTBajlOrv04ORfpXFzOfMvsmJU5EWRDI7XBsE_9yZ2cuGiMnUNjfF9lEyMS5oTkW42RCcrVAUfYzD2Zw0l8rMNmdqQ6zYSffg72Q_7ff4EHK0A37f_On0AplOWRA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2487150454</pqid></control><display><type>article</type><title>Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Oxford University Press Journals All Titles (1996-Current)</source><source>Alma/SFX Local Collection</source><creator>Singh, Prince ; Viehman, Jason K ; Mehta, Ramila A ; Cogal, Andrea G ; Hasadsri, Linda ; Oglesbee, Devin ; Olson, Julie B ; Seide, Barbara M ; Sas, David J ; Harris, Peter C ; Lieske, John C ; Milliner, Dawn S</creator><creatorcontrib>Singh, Prince ; Viehman, Jason K ; Mehta, Ramila A ; Cogal, Andrea G ; Hasadsri, Linda ; Oglesbee, Devin ; Olson, Julie B ; Seide, Barbara M ; Sas, David J ; Harris, Peter C ; Lieske, John C ; Milliner, Dawn S</creatorcontrib><description>Abstract
Background
Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone disease in the first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. This study characterized clinical manifestations of PH3 across the decades of life in comparison with PH1 and PH2.
Methods
Clinical information was obtained from the Rare Kidney Stone Consortium PH Registry (PH1, n = 384; PH2, n = 51; PH3, n = 62).
Results
PH3 patients presented with symptoms at a median of 2.7 years old compared with PH1 (4.9 years) and PH2 (5.7 years) (P = 0.14). Nephrocalcinosis was present at diagnosis in 4 (7%) PH3 patients, while 55 (89%) had stones. Median urine oxalate excretion was lowest in PH3 patients compared with PH1 and PH2 (1.1 versus 1.6 and 1.5 mmol/day/1.73 m2, respectively, P < 0.001) while urine calcium was highest in PH3 (112 versus 51 and 98 mg/day/1.73 m2 in PH1 and PH2, respectively, P < 0.001). Stone events per decade of life were similar across the age span and the three PH types. At 40 years of age, 97% of PH3 patients had not progressed to end-stage kidney disease compared with 36% PH1 and 66% PH2 patients.
Conclusions
Patients with all forms of PH experience lifelong stone events, often beginning in childhood. Kidney failure is common in PH1 but rare in PH3. Longer-term follow-up of larger cohorts will be important for a more complete understanding of the PH3 phenotype.</description><identifier>ISSN: 0931-0509</identifier><identifier>EISSN: 1460-2385</identifier><identifier>DOI: 10.1093/ndt/gfab027</identifier><identifier>PMID: 33543760</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Female ; Humans ; Hyperoxaluria ; Hyperoxaluria, Primary - diagnosis ; Hyperoxaluria, Primary - genetics ; Male ; Mutation ; Nephrolithiasis ; Original ; Phenotype ; Renal Insufficiency</subject><ispartof>Nephrology, dialysis, transplantation, 2022-04, Vol.37 (5), p.869-875</ispartof><rights>The Author(s) 2021. Published by Oxford University Press on behalf of the ERA-EDTA. 2021</rights><rights>The Author(s) 2021. Published by Oxford University Press on behalf of the ERA-EDTA.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c412t-caaee7c84960652d6da6f32f050fdc2430f3857e1efd35e1fbd34d0be39d83cd3</citedby><cites>FETCH-LOGICAL-c412t-caaee7c84960652d6da6f32f050fdc2430f3857e1efd35e1fbd34d0be39d83cd3</cites><orcidid>0000-0002-9486-6002</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,777,781,882,1579,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33543760$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Singh, Prince</creatorcontrib><creatorcontrib>Viehman, Jason K</creatorcontrib><creatorcontrib>Mehta, Ramila A</creatorcontrib><creatorcontrib>Cogal, Andrea G</creatorcontrib><creatorcontrib>Hasadsri, Linda</creatorcontrib><creatorcontrib>Oglesbee, Devin</creatorcontrib><creatorcontrib>Olson, Julie B</creatorcontrib><creatorcontrib>Seide, Barbara M</creatorcontrib><creatorcontrib>Sas, David J</creatorcontrib><creatorcontrib>Harris, Peter C</creatorcontrib><creatorcontrib>Lieske, John C</creatorcontrib><creatorcontrib>Milliner, Dawn S</creatorcontrib><title>Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2</title><title>Nephrology, dialysis, transplantation</title><addtitle>Nephrol Dial Transplant</addtitle><description>Abstract
Background
Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone disease in the first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. This study characterized clinical manifestations of PH3 across the decades of life in comparison with PH1 and PH2.
Methods
Clinical information was obtained from the Rare Kidney Stone Consortium PH Registry (PH1, n = 384; PH2, n = 51; PH3, n = 62).
Results
PH3 patients presented with symptoms at a median of 2.7 years old compared with PH1 (4.9 years) and PH2 (5.7 years) (P = 0.14). Nephrocalcinosis was present at diagnosis in 4 (7%) PH3 patients, while 55 (89%) had stones. Median urine oxalate excretion was lowest in PH3 patients compared with PH1 and PH2 (1.1 versus 1.6 and 1.5 mmol/day/1.73 m2, respectively, P < 0.001) while urine calcium was highest in PH3 (112 versus 51 and 98 mg/day/1.73 m2 in PH1 and PH2, respectively, P < 0.001). Stone events per decade of life were similar across the age span and the three PH types. At 40 years of age, 97% of PH3 patients had not progressed to end-stage kidney disease compared with 36% PH1 and 66% PH2 patients.
Conclusions
Patients with all forms of PH experience lifelong stone events, often beginning in childhood. Kidney failure is common in PH1 but rare in PH3. Longer-term follow-up of larger cohorts will be important for a more complete understanding of the PH3 phenotype.</description><subject>Female</subject><subject>Humans</subject><subject>Hyperoxaluria</subject><subject>Hyperoxaluria, Primary - diagnosis</subject><subject>Hyperoxaluria, Primary - genetics</subject><subject>Male</subject><subject>Mutation</subject><subject>Nephrolithiasis</subject><subject>Original</subject><subject>Phenotype</subject><subject>Renal Insufficiency</subject><issn>0931-0509</issn><issn>1460-2385</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUtLAzEUhYMoWqsr95KVCDI2r5npbAQpvkBwoxs34TaPNjKdjMmMWn-90VbRjatLOB_nntyD0AElp5RUfNTobjSzMCWs3EADKgqSMT7ON9EgqTQjOal20G6MT4SQipXlNtrhPBe8LMgAPU5q1zgFNVZzCKA6E9w7dM432FvcBreAsMTzZWuCf4O6Dw5wl16YY9dg5RctBBcT_eq6-ZcSMcXQaMz20JaFOpr99Ryih8uL-8l1dnt3dTM5v82UoKzLFIAxpRqLqiBFznShobCc2ZTbasUEJzb9pjTUWM1zQ-1Uc6HJ1PBKj7nSfIjOVr5tP10YrUzTBajlOrv04ORfpXFzOfMvsmJU5EWRDI7XBsE_9yZ2cuGiMnUNjfF9lEyMS5oTkW42RCcrVAUfYzD2Zw0l8rMNmdqQ6zYSffg72Q_7ff4EHK0A37f_On0AplOWRA</recordid><startdate>20220425</startdate><enddate>20220425</enddate><creator>Singh, Prince</creator><creator>Viehman, Jason K</creator><creator>Mehta, Ramila A</creator><creator>Cogal, Andrea G</creator><creator>Hasadsri, Linda</creator><creator>Oglesbee, Devin</creator><creator>Olson, Julie B</creator><creator>Seide, Barbara M</creator><creator>Sas, David J</creator><creator>Harris, Peter C</creator><creator>Lieske, John C</creator><creator>Milliner, Dawn S</creator><general>Oxford University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-9486-6002</orcidid></search><sort><creationdate>20220425</creationdate><title>Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2</title><author>Singh, Prince ; Viehman, Jason K ; Mehta, Ramila A ; Cogal, Andrea G ; Hasadsri, Linda ; Oglesbee, Devin ; Olson, Julie B ; Seide, Barbara M ; Sas, David J ; Harris, Peter C ; Lieske, John C ; Milliner, Dawn S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c412t-caaee7c84960652d6da6f32f050fdc2430f3857e1efd35e1fbd34d0be39d83cd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Female</topic><topic>Humans</topic><topic>Hyperoxaluria</topic><topic>Hyperoxaluria, Primary - diagnosis</topic><topic>Hyperoxaluria, Primary - genetics</topic><topic>Male</topic><topic>Mutation</topic><topic>Nephrolithiasis</topic><topic>Original</topic><topic>Phenotype</topic><topic>Renal Insufficiency</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Singh, Prince</creatorcontrib><creatorcontrib>Viehman, Jason K</creatorcontrib><creatorcontrib>Mehta, Ramila A</creatorcontrib><creatorcontrib>Cogal, Andrea G</creatorcontrib><creatorcontrib>Hasadsri, Linda</creatorcontrib><creatorcontrib>Oglesbee, Devin</creatorcontrib><creatorcontrib>Olson, Julie B</creatorcontrib><creatorcontrib>Seide, Barbara M</creatorcontrib><creatorcontrib>Sas, David J</creatorcontrib><creatorcontrib>Harris, Peter C</creatorcontrib><creatorcontrib>Lieske, John C</creatorcontrib><creatorcontrib>Milliner, Dawn S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Nephrology, dialysis, transplantation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Singh, Prince</au><au>Viehman, Jason K</au><au>Mehta, Ramila A</au><au>Cogal, Andrea G</au><au>Hasadsri, Linda</au><au>Oglesbee, Devin</au><au>Olson, Julie B</au><au>Seide, Barbara M</au><au>Sas, David J</au><au>Harris, Peter C</au><au>Lieske, John C</au><au>Milliner, Dawn S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2</atitle><jtitle>Nephrology, dialysis, transplantation</jtitle><addtitle>Nephrol Dial Transplant</addtitle><date>2022-04-25</date><risdate>2022</risdate><volume>37</volume><issue>5</issue><spage>869</spage><epage>875</epage><pages>869-875</pages><issn>0931-0509</issn><eissn>1460-2385</eissn><abstract>Abstract
Background
Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone disease in the first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. This study characterized clinical manifestations of PH3 across the decades of life in comparison with PH1 and PH2.
Methods
Clinical information was obtained from the Rare Kidney Stone Consortium PH Registry (PH1, n = 384; PH2, n = 51; PH3, n = 62).
Results
PH3 patients presented with symptoms at a median of 2.7 years old compared with PH1 (4.9 years) and PH2 (5.7 years) (P = 0.14). Nephrocalcinosis was present at diagnosis in 4 (7%) PH3 patients, while 55 (89%) had stones. Median urine oxalate excretion was lowest in PH3 patients compared with PH1 and PH2 (1.1 versus 1.6 and 1.5 mmol/day/1.73 m2, respectively, P < 0.001) while urine calcium was highest in PH3 (112 versus 51 and 98 mg/day/1.73 m2 in PH1 and PH2, respectively, P < 0.001). Stone events per decade of life were similar across the age span and the three PH types. At 40 years of age, 97% of PH3 patients had not progressed to end-stage kidney disease compared with 36% PH1 and 66% PH2 patients.
Conclusions
Patients with all forms of PH experience lifelong stone events, often beginning in childhood. Kidney failure is common in PH1 but rare in PH3. Longer-term follow-up of larger cohorts will be important for a more complete understanding of the PH3 phenotype.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>33543760</pmid><doi>10.1093/ndt/gfab027</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-9486-6002</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Nephrology, dialysis, transplantation, 2022-04, Vol.37 (5), p.869-875 |
| issn | 0931-0509 1460-2385 |
| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Female Humans Hyperoxaluria Hyperoxaluria, Primary - diagnosis Hyperoxaluria, Primary - genetics Male Mutation Nephrolithiasis Original Phenotype Renal Insufficiency |
| title | Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2 |
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