Homozygous Protein C Deficiency in a Premature Infant- A Case Report
| Autor: | Ravi Teja Juloori, Febe Renjitha Suman, Rithika Rajendran, B Uma Maheswari |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 11, Iss 12, Pp ED11-ED12 (2017) |
| Druh dokumentu: | article |
| ISSN: | 2249-782X 0973-709X |
| DOI: | 10.7860/JCDR/2017/32141.10953 |
| Popis: | Homozygous protein C deficiency is a rare autosomal recessive inherited disorder manifesting as neonatal purpura fulminans. A two-day-old male baby delivered at 31 weeks developed purpuric lesions over the left medial malleolus progressing to other areas. Investigations done showed no detectable protein C activity. Genetic testing identified a homozygous mutation at PROC gene Exon 7; p.Arg211Gln. The diagnosis of inherited homozygous protein C deficiency was made. Heterozygous mutation was identified in the parents. Genetic analysis to detect the heterozygous state in the parents will help in prenatal diagnosis in future pregnancies and in genetic counseling. |
| Databáze: | Directory of Open Access Journals |
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