Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene
Michitsugu KamezakiTetsuro KusabaTakaomi AdachiNoriyuki YamashitaMayumi NakataNoriyoshi OtaYayoi ShiotsuMami IshidaTakeshi UsuiKeiichi Tamagaki
Author information
JOURNALS OPEN ACCESS

2017 Volume 56 Issue 11 Pages 1393-1397

Details
Abstract

Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disease caused by GATA3 mutations. Although several cases with variable renal features have been reported, the presence of histological changes within the glomeruli in adult patients is unclear. We herein report an adult case of HDR syndrome with a novel p.C288W (TGC>TGG) missense mutation in GATA3. His renal histology showed a membranoproliferative glomerulonephritis-like glomerular lesion. Additional renal histological analyses of HDR syndrome patients will be needed to clarify the role of GATA3 in both the developing and adult kidney.

Information related to the author
© 2017 by The Japanese Society of Internal Medicine
Previous article Next article
feedback
Top