期刊
INTERNAL MEDICINE
卷 56, 期 11, 页码 1393-1397出版社
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.56.7930
关键词
HDR syndrome; GATA3; membranoproliferative glomerulonephritis-like lesion
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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