A rare sporadic case of C3 gene mutation in 5-month-old baby girl with atypical hemolytic uremic syndrome, with good prognosis
| Autor: | Hani Almalki, Abdullah A Baothman, Mohammed Almaghrabi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Pediatrics
medicine.medical_specialty lcsh:Diseases of the circulatory (Cardiovascular) system Thrombotic microangiopathy Atypical hemolytic uremic syndrome business.industry media_common.quotation_subject Genetic counseling Microangiopathy microangiopathy Hematology Gene mutation Eculizumab medicine.disease lcsh:RC666-701 Mutation (genetic algorithm) Medicine eculizumab Girl business media_common medicine.drug |
| Zdroj: | Journal of Applied Hematology, Vol 9, Iss 3, Pp 104-107 (2018) |
| ISSN: | 1658-5127 |
| Popis: | Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy representing A, p.(Asp1115Asn). The early recognition and administration of eculizumab are a lifesaving measure. C3 gene mutations are an autosomal dominant inherited pattern, with 50% risk of inheriting this mutation. Therefore, genetic counseling and family member testing are recommended. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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