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 Kamezaki; Tetsuro Kusaba; Takaomi Adachi; Noriyuki Yamashita; Mayumi Nakata; Noriyoshi Ota; Yayoi Shiotsu; Mami Ishida; Takeshi Usui; Keiichi Tamagaki

doi:10.2169/internalmedicine.56.7930

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 Kamezaki, Tetsuro Kusaba, Takaomi Adachi, Noriyuki Yamashita, Mayumi Nakata, Noriyoshi Ota, Yayoi Shiotsu, Mami Ishida, Takeshi Usui, Keiichi Tamagaki

Author information

Michitsugu Kamezaki
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan
Tetsuro Kusaba
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan
Takaomi Adachi
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan
Noriyuki Yamashita
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan
Mayumi Nakata
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan
Noriyoshi Ota
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan
Yayoi Shiotsu
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan
Mami Ishida
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan
Takeshi Usui
Department of Medical Genetics, Shizuoka General Hospital, Japan
Keiichi Tamagaki
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan

Keywords: HDR syndrome, GATA3, membranoproliferative glomerulonephritis-like lesion

JOURNAL OPEN ACCESS

2017 Volume 56 Issue 11 Pages 1393-1397

DOI https://doi.org/10.2169/internalmedicine.56.7930

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.

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