Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome
In evaluating a patient with thrombotic microangiopathy (TMA), it is necessary to rule out thrombotic thrombocytopenic purpura before a diagnosis of atypical hemolytic uremic syndrome (aHUS) is made. There have been reports that mutations of complement factors can coexist with partial A Disintegrin...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Series: | Saudi Journal of Kidney Diseases and Transplantation |
| Online Access: | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=3;spage=701;epage=705;aulast=Arumugam |
| _version_ | 1819263046524076032 |
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| author | Venkatesh Arumugam Rohit Bhowmick Indira Agarwal Manjusha Arumadi |
| author_facet | Venkatesh Arumugam Rohit Bhowmick Indira Agarwal Manjusha Arumadi |
| author_sort | Venkatesh Arumugam |
| collection | DOAJ |
| description | In evaluating a patient with thrombotic microangiopathy (TMA), it is necessary to rule out thrombotic thrombocytopenic purpura before a diagnosis of atypical hemolytic uremic syndrome (aHUS) is made. There have been reports that mutations of complement factors can coexist with partial A Disintegrin and Metalloproteinase with a ThromboSpondin type 1 motif, member 13 deficiency. Here, we report the case of a 6-year-old girl who was initially diagnosed as nephrotic syndrome and developed TMA after five years of onset of illness. She had poor response to treatment and had multiple relapses due to associated complement factor mutation. Hence, genetic evaluation has to be considered in all children presenting with aHUS. |
| first_indexed | 2024-12-23T20:07:22Z |
| format | Article |
| id | doaj.art-76b005a175934a23a6ad8695167560c6 |
| institution | Directory Open Access Journal |
| issn | 1319-2442 |
| language | English |
| last_indexed | 2024-12-23T20:07:22Z |
| publishDate | 2019-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Saudi Journal of Kidney Diseases and Transplantation |
| spelling | doaj.art-76b005a175934a23a6ad8695167560c62022-12-21T17:32:54ZengWolters Kluwer Medknow PublicationsSaudi Journal of Kidney Diseases and Transplantation1319-24422019-01-0130370170510.4103/1319-2442.261349Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndromeVenkatesh ArumugamRohit BhowmickIndira AgarwalManjusha ArumadiIn evaluating a patient with thrombotic microangiopathy (TMA), it is necessary to rule out thrombotic thrombocytopenic purpura before a diagnosis of atypical hemolytic uremic syndrome (aHUS) is made. There have been reports that mutations of complement factors can coexist with partial A Disintegrin and Metalloproteinase with a ThromboSpondin type 1 motif, member 13 deficiency. Here, we report the case of a 6-year-old girl who was initially diagnosed as nephrotic syndrome and developed TMA after five years of onset of illness. She had poor response to treatment and had multiple relapses due to associated complement factor mutation. Hence, genetic evaluation has to be considered in all children presenting with aHUS.http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=3;spage=701;epage=705;aulast=Arumugam |
| spellingShingle | Venkatesh Arumugam Rohit Bhowmick Indira Agarwal Manjusha Arumadi Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome Saudi Journal of Kidney Diseases and Transplantation |
| title | Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome |
| title_full | Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome |
| title_fullStr | Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome |
| title_full_unstemmed | Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome |
| title_short | Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome |
| title_sort | does severe adamts13 deficiency in thrombotic microangiopathy rule out complement mediated atypical hemolytic uremic syndrome |
| url | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=3;spage=701;epage=705;aulast=Arumugam |
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