Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects
Atypical hemolytic uremic syndrome (aHUS) is a rare renal disease (two per one million in the USA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Both sporadic (80% of cases) and familial (20% of cases) forms are recognized. The study of familial aHUS...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Clinical and Developmental Immunology |
| Online Access: | http://dx.doi.org/10.1155/2012/370426 |
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| author | Fengxiao Bu Nicolo Borsa Ardissino Gianluigi Richard J. H. Smith |
| author_facet | Fengxiao Bu Nicolo Borsa Ardissino Gianluigi Richard J. H. Smith |
| author_sort | Fengxiao Bu |
| collection | DOAJ |
| description | Atypical hemolytic uremic syndrome (aHUS) is a rare renal disease (two per one million in the USA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Both sporadic (80% of cases) and familial (20% of cases) forms are recognized. The study of familial aHUS has implicated genetic variation in multiple genes in the complement system in disease pathogenesis, helping to define the mechanism whereby complement dysregulation at the cell surface level leads to both sporadic and familial disease. This understanding has culminated in the use of Eculizumab as first-line therapy in disease treatment, significantly changing the care and prognosis of affected patients. However, even with this bright outlook, major challenges remain to understand the complexity of aHUS at the genetic level. It is possible that a more detailed picture of aHUS can be translated to an improved understanding of disease penetrance, which is highly variable, and response to therapy, both in the short and long terms. |
| format | Article |
| id | doaj-art-1180e0d42db64417b5480833ef8983de |
| institution | Kabale University |
| issn | 1740-2522 1740-2530 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Developmental Immunology |
| spelling | doaj-art-1180e0d42db64417b5480833ef8983de2025-02-03T00:59:04ZengWileyClinical and Developmental Immunology1740-25221740-25302012-01-01201210.1155/2012/370426370426Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical AspectsFengxiao Bu0Nicolo Borsa1Ardissino Gianluigi2Richard J. H. Smith3Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA52242, USALaboratory of Molecular Genetics, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan 20122, ItalyCenter for HUS Control, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan 20122, ItalyInterdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA52242, USAAtypical hemolytic uremic syndrome (aHUS) is a rare renal disease (two per one million in the USA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Both sporadic (80% of cases) and familial (20% of cases) forms are recognized. The study of familial aHUS has implicated genetic variation in multiple genes in the complement system in disease pathogenesis, helping to define the mechanism whereby complement dysregulation at the cell surface level leads to both sporadic and familial disease. This understanding has culminated in the use of Eculizumab as first-line therapy in disease treatment, significantly changing the care and prognosis of affected patients. However, even with this bright outlook, major challenges remain to understand the complexity of aHUS at the genetic level. It is possible that a more detailed picture of aHUS can be translated to an improved understanding of disease penetrance, which is highly variable, and response to therapy, both in the short and long terms.http://dx.doi.org/10.1155/2012/370426 |
| spellingShingle | Fengxiao Bu Nicolo Borsa Ardissino Gianluigi Richard J. H. Smith Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects Clinical and Developmental Immunology |
| title | Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects |
| title_full | Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects |
| title_fullStr | Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects |
| title_full_unstemmed | Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects |
| title_short | Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects |
| title_sort | familial atypical hemolytic uremic syndrome a review of its genetic and clinical aspects |
| url | http://dx.doi.org/10.1155/2012/370426 |
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