Article
Clinical features and outcomes of patients with diacylglycerol kinase epsilon nephropathy: a nationwide experience.
Pediatric nephrology (Berlin, Germany) - 1 Sept 2023
Khandelwal Priyanka, Thangaraju Sharan, Krishnamurthy Sriram, Ohri Alpana, Pais Priya, Mathew Georgie, Sharma Jyoti, Sharma Aditi, Hari Pankaj, Sinha Aditi, Singh Geetika, Bagga Arvind
Abstract excerpt
BACKGROUND: Thrombotic microangiopathy (TMA) is usually caused due to dysregulation of the alternative complement pathway. Rarely, thrombotic microangiopathy is caused by non-complement mediated mutations in diacylglycerol kinase epsilon (DGKE); information about therapy and outcome of these patients is limited. METHODS: Medical records of patients, younger than 18 years, diagnosed with TMA and variants in DGKE...
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