Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review
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 lit...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Nefrologia
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| Series: | Brazilian Journal of Nephrology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002017000400462&lng=en&tlng=en |
| _version_ | 1818465889700282368 |
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| author | John Fredy Nieto Rios Monica Zuluaga Lina Maria Serna Higuita Adriana Florez Diana Carolina Bello-Marquez Arbey Aristizábal Catalina Ocampo Kohn Gustavo Adolfo Zuluaga |
| author_facet | John Fredy Nieto Rios Monica Zuluaga Lina Maria Serna Higuita Adriana Florez Diana Carolina Bello-Marquez Arbey Aristizábal Catalina Ocampo Kohn Gustavo Adolfo Zuluaga |
| author_sort | John Fredy Nieto Rios |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T20:51:49Z |
| format | Article |
| id | doaj.art-7158cb48bd96415e8068bce747a9400d |
| institution | Directory Open Access Journal |
| issn | 2175-8239 |
| language | English |
| last_indexed | 2024-04-13T20:51:49Z |
| publisher | Sociedade Brasileira de Nefrologia |
| record_format | Article |
| series | Brazilian Journal of Nephrology |
| spelling | doaj.art-7158cb48bd96415e8068bce747a9400d2022-12-22T02:30:29ZengSociedade Brasileira de NefrologiaBrazilian Journal of Nephrology2175-823939446246610.5935/0101-2800.20170081S0101-28002017000400462Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature reviewJohn Fredy Nieto RiosMonica ZuluagaLina Maria Serna HiguitaAdriana FlorezDiana Carolina Bello-MarquezArbey AristizábalCatalina Ocampo KohnGustavo Adolfo ZuluagaAbstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002017000400462&lng=en&tlng=enhyperoxaluria, primarykidney failure, chronickidney transplantationlithiasisnephrocalcinosis |
| spellingShingle | John Fredy Nieto Rios Monica Zuluaga Lina Maria Serna Higuita Adriana Florez Diana Carolina Bello-Marquez Arbey Aristizábal Catalina Ocampo Kohn Gustavo Adolfo Zuluaga Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review Brazilian Journal of Nephrology hyperoxaluria, primary kidney failure, chronic kidney transplantation lithiasis nephrocalcinosis |
| title | 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_short | 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 |
| topic | hyperoxaluria, primary kidney failure, chronic kidney transplantation lithiasis nephrocalcinosis |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002017000400462&lng=en&tlng=en |
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