| Discordant evolution of nephrotic syndrome in mono- and dizygotic twins. | |
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MedLine Citation:
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PMID: 16382323 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Twins represent a powerful resource for revealing multifactorial mechanisms in human diseases. Few reports are available on nephrotic syndrome in twins, and most furnish only a partial description of genetic identity based on human leukocyte antigens (HLA) analysis. We describe two pairs of mono and dizygotic twins with nephrotic syndrome who presented discordant outcomes in terms of length and required therapies. In one case, evolution to focal glomerulosclerosis was also documented. The basic molecular work-up included analysis of concordance based on 10 polymorphic markers (D3S1358, vVA, FGA, amelogenin, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820) and exclusion of the major slit-diaphragm gene mutation (NPHS2, CD2AP, WT1) causing nephrotic syndrome. To our knowledge, this is the first description of long-term outcome in mono- and dizygotic twins with proven genetic concordance. Discordant outcomes indicate a major influence of environmental and/or epigenetic multifactorial mechanisms on persistence and evolution of the disease to focal-segmental glomerulosclerosis. |
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Authors:
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Gian Marco Ghiggeri; Monica Dagnino; Stefano Parodi; Cristina Zennaro; Antonio Amoroso; Francesco Pugliese; Francesco Perfumo |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2005-12-29 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 21 ISSN: 0931-041X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2006 Mar |
Date Detail:
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Created Date: 2006-02-21 Completed Date: 2006-08-30 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 419-22 Citation Subset: IM |
Affiliation:
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Nephrology Unit, G. Gaslini Children's Hospital, Genoa, Italy. labnefro@ospedale-gaslini.ge.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child Diseases in Twins* Female Glomerulosclerosis, Focal Segmental / genetics Humans Male Microsatellite Repeats / genetics Multifactorial Inheritance Nephrotic Syndrome / complications, diagnosis, drug therapy, genetics* Polymorphism, Genetic Recurrence Twins, Dizygotic* Twins, Monozygotic* |
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