Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome
Hemolytic uremic syndrome (HUS) is an unrare and severe thrombotic microangiopathy (TMA) caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and inf...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/2794060 |
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| author | Gianluigi Ardissino Michela Perrone Francesca Tel Sara Testa Amelia Morrone Ilaria Possenti Francesco Tagliaferri Robertino Dilena Francesca Menni |
| author_facet | Gianluigi Ardissino Michela Perrone Francesca Tel Sara Testa Amelia Morrone Ilaria Possenti Francesco Tagliaferri Robertino Dilena Francesca Menni |
| author_sort | Gianluigi Ardissino |
| collection | DOAJ |
| description | Hemolytic uremic syndrome (HUS) is an unrare and severe thrombotic microangiopathy (TMA) caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC) can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS) related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age. |
| format | Article |
| id | doaj-art-118e02f508f7423dbd6b059e124dd79a |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-118e02f508f7423dbd6b059e124dd79a2025-02-03T01:23:07ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/27940602794060Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic SyndromeGianluigi Ardissino0Michela Perrone1Francesca Tel2Sara Testa3Amelia Morrone4Ilaria Possenti5Francesco Tagliaferri6Robertino Dilena7Francesca Menni8Center for HUS Prevention Control and Management, Fondazione IRCCS Ca’ Granda Osp. Maggiore Policlinico, Milan, ItalyCenter for HUS Prevention Control and Management, Fondazione IRCCS Ca’ Granda Osp. Maggiore Policlinico, Milan, ItalyCenter for HUS Prevention Control and Management, Fondazione IRCCS Ca’ Granda Osp. Maggiore Policlinico, Milan, ItalyCenter for HUS Prevention Control and Management, Fondazione IRCCS Ca’ Granda Osp. Maggiore Policlinico, Milan, ItalyPaediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children’s Hospital, Florence, ItalyPediatric Unit, Pediatric Hospital C. Arrigo, Alessandria, ItalyPediatric Unit, Fondazione IRCCS Ca’ Granda Osp. Maggiore Policlinico, Milan, ItalyUOC Neurophysiology, Fondazione IRCCS Ca’ Granda Osp. Maggiore Policlinico, Milan, ItalyPediatric Unit, Fondazione IRCCS Ca’ Granda Osp. Maggiore Policlinico, Milan, ItalyHemolytic uremic syndrome (HUS) is an unrare and severe thrombotic microangiopathy (TMA) caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC) can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS) related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age.http://dx.doi.org/10.1155/2017/2794060 |
| spellingShingle | Gianluigi Ardissino Michela Perrone Francesca Tel Sara Testa Amelia Morrone Ilaria Possenti Francesco Tagliaferri Robertino Dilena Francesca Menni Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome Case Reports in Pediatrics |
| title | Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome |
| title_full | Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome |
| title_fullStr | Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome |
| title_full_unstemmed | Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome |
| title_short | Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome |
| title_sort | late onset cobalamin disorder and hemolytic uremic syndrome a rare cause of nephrotic syndrome |
| url | http://dx.doi.org/10.1155/2017/2794060 |
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