De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura
Introduction. Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. Here, we describe a de novo geneti...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2021/5516863 |
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| author | Ibrahim Alharbi Sarah Alqarni Wed Khayyat Amirah Almatrafi |
| author_facet | Ibrahim Alharbi Sarah Alqarni Wed Khayyat Amirah Almatrafi |
| author_sort | Ibrahim Alharbi |
| collection | DOAJ |
| description | Introduction. Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. Here, we describe a de novo genetic mutation of the ADAMTS13 gene and a rare complication of cTTP in a neonate. Case Presentation. A full-term baby boy developed tachypnea, bradycardia, and oxygen desaturation at 2 h of life and was shifted to the newborn intensive care unit. He was oliguric in the first 24 h of life and had one episode of epistaxis. Blood-stained urine was observed in the urine catheter, and a coffee-ground-colored fluid was drained from the orogastric tube. Histopathological analysis revealed gastric perforation with features of ischemic insult. On day 8, genetic analysis confirmed the diagnosis of autosomal recessive familial thrombotic thrombocytopenic purpura and revealed a unique homozygous deletion mutation on exon 23 of ADAMTS13: c.2883del p.(Cys962Alafs∗3). Conclusion. cTTP is a rare life-threatening autosomal recessive disease with a high mortality rate. Early detection and initiation of aggressive treatment with plasma infusion could be a life-saving strategy in such cases. |
| format | Article |
| id | doaj-art-524cf33913ef419eba41967beddb7a81 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-524cf33913ef419eba41967beddb7a812025-02-03T07:24:02ZengWileyCase Reports in Hematology2090-65602090-65792021-01-01202110.1155/2021/55168635516863De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic PurpuraIbrahim Alharbi0Sarah Alqarni1Wed Khayyat2Amirah Almatrafi3Department of Pediatrics, Umm Al-Qura University, Makkah, Saudi ArabiaUmm Al-Qura University, Makkah, Saudi ArabiaUmm Al-Qura University, Makkah, Saudi ArabiaUmm Al-Qura University, Makkah, Saudi ArabiaIntroduction. Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. Here, we describe a de novo genetic mutation of the ADAMTS13 gene and a rare complication of cTTP in a neonate. Case Presentation. A full-term baby boy developed tachypnea, bradycardia, and oxygen desaturation at 2 h of life and was shifted to the newborn intensive care unit. He was oliguric in the first 24 h of life and had one episode of epistaxis. Blood-stained urine was observed in the urine catheter, and a coffee-ground-colored fluid was drained from the orogastric tube. Histopathological analysis revealed gastric perforation with features of ischemic insult. On day 8, genetic analysis confirmed the diagnosis of autosomal recessive familial thrombotic thrombocytopenic purpura and revealed a unique homozygous deletion mutation on exon 23 of ADAMTS13: c.2883del p.(Cys962Alafs∗3). Conclusion. cTTP is a rare life-threatening autosomal recessive disease with a high mortality rate. Early detection and initiation of aggressive treatment with plasma infusion could be a life-saving strategy in such cases.http://dx.doi.org/10.1155/2021/5516863 |
| spellingShingle | Ibrahim Alharbi Sarah Alqarni Wed Khayyat Amirah Almatrafi De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura Case Reports in Hematology |
| title | De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura |
| title_full | De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura |
| title_fullStr | De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura |
| title_full_unstemmed | De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura |
| title_short | De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura |
| title_sort | de novo mutation of the adamts13 gene with mesenteric ischemia in an infant with congenital thrombotic thrombocytopenic purpura |
| url | http://dx.doi.org/10.1155/2021/5516863 |
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