Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center
Abstract Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study’s aim was to describe the clinical profile, man...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Nefrologia
2021-05-01
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| Series: | Brazilian Journal of Nephrology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000300311&tlng=en |
| _version_ | 1797257435673526272 |
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| author | Cristiana Maximiano Andreia Silva Inês Duro Tiago Branco Liane Correia-Costa Ana Teixeira Liliana Rocha Teresa Costa Paula Matos Maria do Sameiro Faria Conceição Mota Alberto Caldas Afonso |
| author_facet | Cristiana Maximiano Andreia Silva Inês Duro Tiago Branco Liane Correia-Costa Ana Teixeira Liliana Rocha Teresa Costa Paula Matos Maria do Sameiro Faria Conceição Mota Alberto Caldas Afonso |
| author_sort | Cristiana Maximiano |
| collection | DOAJ |
| description | Abstract Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study’s aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years. Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed. Results: Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months). Conclusion: In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed. |
| first_indexed | 2024-04-24T22:37:36Z |
| format | Article |
| id | doaj.art-14f7af50c6704499901bf2690c35fb68 |
| institution | Directory Open Access Journal |
| issn | 2175-8239 |
| language | English |
| last_indexed | 2024-04-24T22:37:36Z |
| publishDate | 2021-05-01 |
| publisher | Sociedade Brasileira de Nefrologia |
| record_format | Article |
| series | Brazilian Journal of Nephrology |
| spelling | doaj.art-14f7af50c6704499901bf2690c35fb682024-03-19T07:39:13ZengSociedade Brasileira de NefrologiaBrazilian Journal of Nephrology2175-82392021-05-0143331131710.1590/2175-8239-jbn-2020-0199Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary centerCristiana Maximianohttps://orcid.org/0000-0001-9916-925XAndreia Silvahttps://orcid.org/0000-0002-5417-2188Inês Durohttps://orcid.org/0000-0002-1870-2727Tiago Brancohttps://orcid.org/0000-0002-2825-4606Liane Correia-Costahttps://orcid.org/0000-0002-8216-090XAna Teixeirahttps://orcid.org/0000-0001-5211-2467Liliana Rochahttps://orcid.org/0000-0002-1393-852XTeresa Costahttps://orcid.org/0000-0003-2230-6871Paula Matoshttps://orcid.org/0000-0003-1819-5275Maria do Sameiro Fariahttps://orcid.org/0000-0002-8061-9289Conceição Motahttps://orcid.org/0000-0002-4741-0002Alberto Caldas Afonsohttps://orcid.org/0000-0001-6776-9883Abstract Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study’s aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years. Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed. Results: Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months). Conclusion: In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000300311&tlng=enAtypical Hemolytic Uremic SyndromeChildGenetic TestingThrombotic Microangiopathies |
| spellingShingle | Cristiana Maximiano Andreia Silva Inês Duro Tiago Branco Liane Correia-Costa Ana Teixeira Liliana Rocha Teresa Costa Paula Matos Maria do Sameiro Faria Conceição Mota Alberto Caldas Afonso Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center Brazilian Journal of Nephrology Atypical Hemolytic Uremic Syndrome Child Genetic Testing Thrombotic Microangiopathies |
| title | Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
| title_full | Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
| title_fullStr | Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
| title_full_unstemmed | Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
| title_short | Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
| title_sort | genetic atypical hemolytic uremic syndrome in children a 20 year experience from a tertiary center |
| topic | Atypical Hemolytic Uremic Syndrome Child Genetic Testing Thrombotic Microangiopathies |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000300311&tlng=en |
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