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John L. Dart Library
9 a.m. - 6 p.m.
Phone: (843) 722-7550
West Ashley Library
9 a.m. - 6 p.m.
Phone: (843) 766-6635
Folly Beach Library
9 a.m. - 1 p.m.
Phone: (843) 588-2001
Edgar Allan Poe/Sullivan's Island Library
Closed for renovations
Phone: (843) 883-3914
Wando Mount Pleasant Library
9 a.m. - 6 p.m.
Phone: (843) 805-6888
Village Library
9 a.m. - 6 p.m.
Phone: (843) 884-9741
St. Paul's/Hollywood Library
9 a.m. - 6 p.m.
Phone: (843) 889-3300
Otranto Road Library
9 a.m. - 6 p.m.
Phone: (843) 572-4094
Mt. Pleasant Library
9 a.m. – 6 p.m.
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McClellanville Library
9 a.m. - 1 p.m.
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Keith Summey North Charleston Library
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John's Island Library
9 a.m. - 6 p.m.
Phone: (843) 559-1945
Hurd/St. Andrews Library
9 a.m. - 6 p.m.
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Miss Jane's Building (Edisto Library Temporary Location)
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9 a.m. - 6 p.m.
Phone: (843) 795-6679
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Phone: (843) 805-6930
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Phone: (843) 805-6909
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Clinical features and outcomes of patients with diacylglycerol kinase epsilon nephropathy: a nationwide experience.
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- Author(s): Khandelwal, Priyanka; Thangaraju, Sharan; Krishnamurthy, Sriram; Ohri, Alpana; Pais, Priya; Mathew, Georgie; Sharma, Jyoti; Sharma, Aditi; Hari, Pankaj; Sinha, Aditi; Singh, Geetika; Bagga, Arvind
- Source:
Pediatric Nephrology. Sep2023, Vol. 38 Issue 9, p3009-3016. 8p. 1 Color Photograph, 3 Charts. - Source:
- Additional Information
- Subject Terms: HYPERTENSION risk factors; KIDNEY disease treatments; ESCHERICHIA coli; PATIENT aftercare; CHRONIC kidney failure; GENETICS; GENETIC mutation; SEQUENCE analysis; DIARRHEA; HEMOLYSIS & hemolysins; HEALTH outcome assessment; KIDNEY diseases; DISEASE relapse; TRANSFERASES; MEDICAL records; PROTEINURIA; RESEARCH funding; THROMBOCYTOPENIA; HEMATURIA; HISTOLOGY; DISEASE risk factors; SYMPTOMS
- Abstract: 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 were reviewed to include 12 patients from seven centers. Genetic studies included targeted exome sequencing and multiplex-ligation dependent probe amplification of CFH-CFHR5. Results: Patients presented at a median age of 11 (7.5, 12.3) months; all were younger than 2 years. All patients had an infectious prodrome; enteroinvasive, enteropathogenic, and enterotoxigenic Escherichia coli were detected in two patients with diarrhea. Chief features included those of microangiopathic hemolysis (n = 11), microscopic hematuria (n = 10), nephrotic range proteinuria (n = 10), hypoalbuminemia (n = 6), elevated total cholesterol (n = 6), and hypocomplementemia (n = 4). Histopathology showed thrombotic microangiopathy (n = 4), overlapping with membranoproliferative pattern of injury (n = 1). At median 3.3 years of follow-up, significant hypertension and/or proteinuria (40%), relapses (66.7%), and death or progression to CKD (60%) were common. Genetic sequencing showed 13 homozygous and compound heterozygous variants (7 pathogenic, 3 likely pathogenic) located throughout DGKE; 11 variants were novel. Conclusions: This case series highlights the need to suspect DGKE nephropathy in young patients with TMA, especially those with severe proteinuria. Medium-term outcomes are unsatisfactory with risk of relapses, progressive kidney failure, and death. [ABSTRACT FROM AUTHOR]
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