Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Jornal Brasileiro de Nefrologia |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002017000400462 |
Resumo: | Abstract Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). We present two cases of patients with a history of renal lithiasis who were diagnosed with primary hyperoxaluria in the post-transplant period, manifested by early graft failure, with evidence of calcium oxalate crystals in renal biopsy, hyperoxaluria, hyperoxalemia, and genetic test compatible; they were managed with proper diet, abundant oral liquids, pyridoxine, hydrochlorothiazide and potassium citrate; however, they had slow but progressive deterioration of their grafts function until they reached end-stage chronic renal disease. |
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Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature reviewhyperoxaluria, primarykidney failure, chronickidney transplantationlithiasisnephrocalcinosisAbstract Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). We present two cases of patients with a history of renal lithiasis who were diagnosed with primary hyperoxaluria in the post-transplant period, manifested by early graft failure, with evidence of calcium oxalate crystals in renal biopsy, hyperoxaluria, hyperoxalemia, and genetic test compatible; they were managed with proper diet, abundant oral liquids, pyridoxine, hydrochlorothiazide and potassium citrate; however, they had slow but progressive deterioration of their grafts function until they reached end-stage chronic renal disease.Sociedade Brasileira de Nefrologia2017-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002017000400462Brazilian Journal of Nephrology v.39 n.4 2017reponame:Jornal Brasileiro de Nefrologiainstname:Sociedade Brasileira de Nefrologia (SBN)instacron:SBN10.5935/0101-2800.20170081info:eu-repo/semantics/openAccessRios,John Fredy NietoZuluaga,MonicaHiguita,Lina Maria SernaFlorez,AdrianaBello-Marquez,Diana CarolinaAristizábal,ArbeyKohn,Catalina OcampoZuluaga,Gustavo Adolfoeng2018-01-04T00:00:00Zoai:scielo:S0101-28002017000400462Revistahttp://www.bjn.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||jbn@sbn.org.br2175-82390101-2800opendoar:2018-01-04T00:00Jornal Brasileiro de Nefrologia - Sociedade Brasileira de Nefrologia (SBN)false |
dc.title.none.fl_str_mv |
Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review |
title |
Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review |
spellingShingle |
Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review Rios,John Fredy Nieto hyperoxaluria, primary kidney failure, chronic kidney transplantation lithiasis nephrocalcinosis |
title_short |
Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review |
title_full |
Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review |
title_fullStr |
Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review |
title_full_unstemmed |
Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review |
title_sort |
Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review |
author |
Rios,John Fredy Nieto |
author_facet |
Rios,John Fredy Nieto Zuluaga,Monica Higuita,Lina Maria Serna Florez,Adriana Bello-Marquez,Diana Carolina Aristizábal,Arbey Kohn,Catalina Ocampo Zuluaga,Gustavo Adolfo |
author_role |
author |
author2 |
Zuluaga,Monica Higuita,Lina Maria Serna Florez,Adriana Bello-Marquez,Diana Carolina Aristizábal,Arbey Kohn,Catalina Ocampo Zuluaga,Gustavo Adolfo |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Rios,John Fredy Nieto Zuluaga,Monica Higuita,Lina Maria Serna Florez,Adriana Bello-Marquez,Diana Carolina Aristizábal,Arbey Kohn,Catalina Ocampo Zuluaga,Gustavo Adolfo |
dc.subject.por.fl_str_mv |
hyperoxaluria, primary kidney failure, chronic kidney transplantation lithiasis nephrocalcinosis |
topic |
hyperoxaluria, primary kidney failure, chronic kidney transplantation lithiasis nephrocalcinosis |
description |
Abstract Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). We present two cases of patients with a history of renal lithiasis who were diagnosed with primary hyperoxaluria in the post-transplant period, manifested by early graft failure, with evidence of calcium oxalate crystals in renal biopsy, hyperoxaluria, hyperoxalemia, and genetic test compatible; they were managed with proper diet, abundant oral liquids, pyridoxine, hydrochlorothiazide and potassium citrate; however, they had slow but progressive deterioration of their grafts function until they reached end-stage chronic renal disease. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002017000400462 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002017000400462 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.5935/0101-2800.20170081 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Nefrologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Nefrologia |
dc.source.none.fl_str_mv |
Brazilian Journal of Nephrology v.39 n.4 2017 reponame:Jornal Brasileiro de Nefrologia instname:Sociedade Brasileira de Nefrologia (SBN) instacron:SBN |
instname_str |
Sociedade Brasileira de Nefrologia (SBN) |
instacron_str |
SBN |
institution |
SBN |
reponame_str |
Jornal Brasileiro de Nefrologia |
collection |
Jornal Brasileiro de Nefrologia |
repository.name.fl_str_mv |
Jornal Brasileiro de Nefrologia - Sociedade Brasileira de Nefrologia (SBN) |
repository.mail.fl_str_mv |
||jbn@sbn.org.br |
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1752122064595058688 |