Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child
Background: Congenital deficiency of ADAMTS13 is characterized by systemic platelet clumping, hemolytic anemia and multiorgan failure. Although, more than 100 mutations have been reported, atypical clinical presentation may be involved in diagnostic difficulties. Case report: A 2 year old Tunisian...
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PAGEPress Publications
2013-06-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | http://www.mjhid.org/index.php/mjhid/article/view/474 |
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| author | aida borgi |
| author_facet | aida borgi |
| author_sort | aida borgi |
| collection | DOAJ |
| description | Background: Congenital deficiency of ADAMTS13 is characterized by systemic platelet clumping, hemolytic anemia and multiorgan failure. Although, more than 100 mutations have been reported, atypical clinical presentation may be involved in diagnostic difficulties.
Case report: A 2 year old Tunisian child presented with chronic thrombopenic purpura which failed to respond to corticosteroids. Hemolytic anemia with schizocytes, occurred ten months later, with no previous history of diarrhea or any neurological abnormality. Renal function, coagulation screening tests and complement assay were normal. The count of platelet improved after fresh frozen infusion (FFP). Extensive investigations revealed a severe deficiency of ADAMTS 13 activity (level< 5%). Gene sequencing identified mutation in exon 18 of ADAMTS 13 gene. Prophylactic regimen with regular infusions of FFP was associated to favorable outcome. Conclusion: Early ADAMTS 13 activity testing and gene sequencing associated to precocious plasmatherapy are crucial to reduce morbidity and mortality of congenital TTP. |
| format | Article |
| id | doaj-art-e8580f9920fb4e5ab9a8f38c8e3445c2 |
| institution | Kabale University |
| issn | 2035-3006 |
| language | English |
| publishDate | 2013-06-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-e8580f9920fb4e5ab9a8f38c8e3445c22025-01-02T08:53:40ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062013-06-0151e2013041e201304110.4084/mjhid.2013.041366Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Childaida borgi0Pediatric A Department- Children’s Hospital of TunisBackground: Congenital deficiency of ADAMTS13 is characterized by systemic platelet clumping, hemolytic anemia and multiorgan failure. Although, more than 100 mutations have been reported, atypical clinical presentation may be involved in diagnostic difficulties. Case report: A 2 year old Tunisian child presented with chronic thrombopenic purpura which failed to respond to corticosteroids. Hemolytic anemia with schizocytes, occurred ten months later, with no previous history of diarrhea or any neurological abnormality. Renal function, coagulation screening tests and complement assay were normal. The count of platelet improved after fresh frozen infusion (FFP). Extensive investigations revealed a severe deficiency of ADAMTS 13 activity (level< 5%). Gene sequencing identified mutation in exon 18 of ADAMTS 13 gene. Prophylactic regimen with regular infusions of FFP was associated to favorable outcome. Conclusion: Early ADAMTS 13 activity testing and gene sequencing associated to precocious plasmatherapy are crucial to reduce morbidity and mortality of congenital TTP.http://www.mjhid.org/index.php/mjhid/article/view/474: thrombotic thrombocytopenic purpuraUpshaw-Schulman syndromeADAMTS 13, plasmatherapy. |
| spellingShingle | aida borgi Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child Mediterranean Journal of Hematology and Infectious Diseases : thrombotic thrombocytopenic purpura Upshaw-Schulman syndrome ADAMTS 13, plasmatherapy. |
| title | Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child |
| title_full | Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child |
| title_fullStr | Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child |
| title_full_unstemmed | Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child |
| title_short | Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child |
| title_sort | congenital thrombotic thrombocytopenic purpura atypical presentation and first adamts 13 mutation in a tunisian child |
| topic | : thrombotic thrombocytopenic purpura Upshaw-Schulman syndrome ADAMTS 13, plasmatherapy. |
| url | http://www.mjhid.org/index.php/mjhid/article/view/474 |
| work_keys_str_mv | AT aidaborgi congenitalthromboticthrombocytopenicpurpuraatypicalpresentationandfirstadamts13mutationinatunisianchild |