Novel compound heterozygous mutation of the diacylglycerol kinase epsilon gene and membranoproliferative glomerulonephritis: a case report

Hong Kong Med J. 2023 Aug;29(4):351-354. doi: 10.12809/hkmj219939. Epub 2023 Jul 12.

Authors

S H Y Lau¹, E Y H Chan², L Y P Yuen³, W F Ng³, A L T Ma²

Affiliations

¹ Department of Paediatrics, Prince of Wales Hospital, Hong Kong SAR, China.
² Paediatric Nephrology Centre, Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong SAR, China.
³ Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China.

PMID: 37433757
DOI: 10.12809/hkmj219939

No abstract available

Keywords: Diacylglycerol kinase; Glomerulonephritis; Nephrotic syndrome; Thrombotic microangiopathies.

Publication types

Case Reports
Comment

MeSH terms

Diacylglycerol Kinase / genetics
Glomerulonephritis*
Glomerulonephritis, Membranoproliferative* / genetics
Humans
Mutation

Substances

Diacylglycerol Kinase