AI Article Synopsis
- HDR syndrome is a rare genetic disorder linked to mutations in the GATA3 gene, characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia.
- A new case of HDR syndrome was reported in an adult with a specific mutation (p.C288W) in GATA3, revealing unusual kidney histology similar to membranoproliferative glomerulonephritis.
- Further studies on kidney histology in HDR syndrome patients are essential to understand how GATA3 affects kidney development and function in adults.
Article 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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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498205 | PMC |
| http://dx.doi.org/10.2169/internalmedicine.56.7930 | DOI Listing |
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