ArticleClinical kidney journal2019
Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications.
Article in Clinical kidney journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Article
- Clinical features and outcomes of patients with diacylglycerol kinase epsilon nephropathy: a nationwide experience.Pediatric nephrology (Berlin, Germany) · 2023Article
- Clinical features and management of atypical hemolytic uremic syndrome patient withFrontiers in pediatrics · 2023Review
- Thrombotic microangiopathy in children.Pediatric nephrology (Berlin, Germany) · 2022Review
- A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab: a case report.BMC nephrology · 2021Article
- Atypical hemolytic uremic syndrome in Brazil: clinical presentation, genetic findings and outcomes of a case series in adults and children treated with eculizumab.Clinical kidney journal · 2021Article
- Rare and Complex: lessons from a cohort of patients with Atypical Hemolytic Uremic Syndrome.Jornal brasileiro de nefrologiaArticle
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 17-year-old male presented thrombotic microangiopathy (TMA) at 6 months of age with arterial hypertension, anemia, thrombocytopenia and kidney injury improving with plasma infusions. Fourteen years later, he was diagnosed with severe arterial hypertension, increase in serum creatinine and chronic TMA on kidney biopsy. Eculizumab was started and after 18 months of treatment, he persisted with hypertension, decline in renal function and proteinuria. Genetic analysis demonstrated mutation in diacylglycerol kinase epsilon (DGKe). Complement blockade was stopped. This case of late diagnosis of DGKe nephropathy highlights the importance of genetic testing in patients presenting TMA during the first year of life.
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Registered trials
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