Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAV
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ORIGINAL ARTICLE
Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI) Mia Ma 1,2 & Samia Mazumder 1,2 & Hannah Kwak 2 & Matthew Adams 2 & Melissa Gregory 2 Received: 29 April 2020 / Accepted: 18 August 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a rare disorder that is associated with extensive inflammation throughout the body due to a high interferon state. Common clinical manifestations of this disorder include chronic lung disease, digital necrosis, recurrent low-grade fevers, and inflammatory skin lesions. However, renal involvement in patients with SAVI has been sparsely documented. We describe a unique case of pediatric SAVI associated with thrombotic microangiopathy (TMA), collapsing focal segmental glomerulosclerosis, interstitial lung disease (from SAVI involvement), and chronic kidney disease. This patient had a substantial hospital course where he developed renal failure. Extensive studies were conducted to exclude all other causes, including infection and possible drug side effects. Ultimately, immunologic evaluation demonstrated normal complement studies, a low ADAMTS13, and presence of ADAMTS13 inhibitor. There was also evidence of thrombocytopenia and schistocytes on peripheral blood smear. Subsequently, the patient was diagnosed with TMA and he was treated with fresh frozen plasma. Repeat immunologic studies confirmed that the TMA had resolved. In addition to describing a novel association between TMA and SAVI, this case also illustrates the challenges associated with optimizing treatment regimens and the importance of clinical vigilance for atypical complications that may arise in patients with SAVI. Keywords STING-associated vasculopathy with onset in infancy . thrombotic microangiopathy . case report
Abbreviations STING Stimulator of interferon genes SAVI STING-associated vasculopathy with onset in infancy TMA Thrombotic microangiopathy PICU Pediatric intensive care unit
Introduction Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a rare, autoinflammatory disorder that is also classified as a type I interferonopathy [1]. SAVI is primarily inherited in an autosomal dominant pattern. * Mia Ma [email protected] 1
Wayne State University School of Medicine, Detroit, MI, USA
2
Children’s Hospital of Michigan, Detroit, MI, USA
Most patients are carrying de novo, gain-of-function mutations in the TMEM173 gene encoding STING [2, 3]. STING is a key resident protein in the endoplasmic reticulum that functions as a critical link between cytosolic DNA and the induction of type I interferons. Activating mutations in the TMEM173 gene result in an overactivation of STING and overproduction of interferons that act upon the Janus kinase (JAK) and tyrosine kinase (Tyk) receptors. Type 1 interferons bind JAK and Tyk receptors, which ultimately induces recepto
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