Proteinuria in frasier syndrome
Introduction. Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms’ tumour suppressor gene (WT1). Proteinuria in FS has been traditionally considered unresponsive to any medication and FS inevitably progresses to end stage renal failure. Case Outli...
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| Format: | Article |
| Language: | English |
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Serbian Medical Society
2013-01-01
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| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2013/0370-81791310685P.pdf |
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| author | Peco-Antić Amira Ozaltin Fatih Parezanović Vojislav Miloševski-Lomić Gordana Zdravković Verica |
| author_facet | Peco-Antić Amira Ozaltin Fatih Parezanović Vojislav Miloševski-Lomić Gordana Zdravković Verica |
| author_sort | Peco-Antić Amira |
| collection | DOAJ |
| description | Introduction. Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms’ tumour suppressor gene (WT1). Proteinuria in FS has been traditionally considered unresponsive to any medication and FS inevitably progresses to end stage renal failure. Case Outline. We present a patient with FS who had atypical clinical manifestation and unusual beneficial antiproteinuric response to renin-angiotensin system (RAS) inhibitors given in combination with indomethacin. After 13 years of follow-up, the patient is now 17-year old with normal renal functions and no proteinuria. Conclusion. RAS inhibitors combined with indomethacin showed beneficial effect in our patient. Thus, this combination might be the initial treatment of patients with FS. If this treatment strategy was not satisfied for at least 3 months, then CsA would be considered to be administered taking account of the nephrotoxicity and the increased risk of malignancy. Further prospective study is required to clarify this issue. [Projekat Ministarstva nauke Republike Srbije, br. OI175079] |
| first_indexed | 2024-12-17T20:55:09Z |
| format | Article |
| id | doaj.art-a1e0eaf318384852972d6a061434f66a |
| institution | Directory Open Access Journal |
| issn | 0370-8179 |
| language | English |
| last_indexed | 2024-12-17T20:55:09Z |
| publishDate | 2013-01-01 |
| publisher | Serbian Medical Society |
| record_format | Article |
| series | Srpski Arhiv za Celokupno Lekarstvo |
| spelling | doaj.art-a1e0eaf318384852972d6a061434f66a2022-12-21T21:32:54ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792013-01-011419-1068568810.2298/SARH1310685PProteinuria in frasier syndromePeco-Antić AmiraOzaltin FatihParezanović VojislavMiloševski-Lomić GordanaZdravković VericaIntroduction. Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms’ tumour suppressor gene (WT1). Proteinuria in FS has been traditionally considered unresponsive to any medication and FS inevitably progresses to end stage renal failure. Case Outline. We present a patient with FS who had atypical clinical manifestation and unusual beneficial antiproteinuric response to renin-angiotensin system (RAS) inhibitors given in combination with indomethacin. After 13 years of follow-up, the patient is now 17-year old with normal renal functions and no proteinuria. Conclusion. RAS inhibitors combined with indomethacin showed beneficial effect in our patient. Thus, this combination might be the initial treatment of patients with FS. If this treatment strategy was not satisfied for at least 3 months, then CsA would be considered to be administered taking account of the nephrotoxicity and the increased risk of malignancy. Further prospective study is required to clarify this issue. [Projekat Ministarstva nauke Republike Srbije, br. OI175079]http://www.doiserbia.nb.rs/img/doi/0370-8179/2013/0370-81791310685P.pdfsteroid resistant nephrotic syndromeWilms’ tumour suppressor gene (WT1)angiotensin converting enzyme (ACE) inhibitorangiotensin receptor blockerindomethacin |
| spellingShingle | Peco-Antić Amira Ozaltin Fatih Parezanović Vojislav Miloševski-Lomić Gordana Zdravković Verica Proteinuria in frasier syndrome Srpski Arhiv za Celokupno Lekarstvo steroid resistant nephrotic syndrome Wilms’ tumour suppressor gene (WT1) angiotensin converting enzyme (ACE) inhibitor angiotensin receptor blocker indomethacin |
| title | Proteinuria in frasier syndrome |
| title_full | Proteinuria in frasier syndrome |
| title_fullStr | Proteinuria in frasier syndrome |
| title_full_unstemmed | Proteinuria in frasier syndrome |
| title_short | Proteinuria in frasier syndrome |
| title_sort | proteinuria in frasier syndrome |
| topic | steroid resistant nephrotic syndrome Wilms’ tumour suppressor gene (WT1) angiotensin converting enzyme (ACE) inhibitor angiotensin receptor blocker indomethacin |
| url | http://www.doiserbia.nb.rs/img/doi/0370-8179/2013/0370-81791310685P.pdf |
| work_keys_str_mv | AT pecoanticamira proteinuriainfrasiersyndrome AT ozaltinfatih proteinuriainfrasiersyndrome AT parezanovicvojislav proteinuriainfrasiersyndrome AT milosevskilomicgordana proteinuriainfrasiersyndrome AT zdravkovicverica proteinuriainfrasiersyndrome |